Category Archives: Privacy

Concepts: Anonymized Versus Pseudonymized Data and Your Genetic Privacy

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Until recently, when people (often relatives) expressed concerns about DNA testing, genetic genealogy buffs would explain that the tester could remain anonymous, and that their test could be registered under another name; ours, for example.

This means, of course, that since our relative is testing for OUR genealogy addiction, er…hobby, that we would take care of those pesky inquiries and everything else. Not only would they not be bothered, but their identity would never be known to anyone other than us.

Let’s dissect that statement, because in some cases, it’s still partially true – but in other cases, anonymity in DNA testing is no longer possible.

You certainly CAN put your name on someone else’s kit and manage their account for them. There are a variety of ways to accomplish this, depending on the testing vendor you select.

If the DNA testing is either Y or mitochondrial DNA, it’s extremely UNLIKELY, if not impossible, that their Y or mitochondrial DNA is going to uniquely identify them as an individual.

Y and mitochondrial DNA is extremely useful in identifying someone as having descended from an ancestor, or not, but it (probably) won’t identify the tester’s identity to any matching person – at least not without additional information.

If you need a brush-up on the different kinds of DNA and how they can be used for genealogy, please read 4 Kinds of DNA for Genetic Genealogy.

Y and mitochondrial DNA can be used to rule in or rule out specific descendant relationships. In other words, you can unquestionably tell for sure that you are NOT related through a specific line. Conversely, you can sometimes confirm that you are most likely related to someone you match through the direct Y (patrilineal) line for males, and matrilineal mitochondrial line for both males and females. That match could be very distant in time, meaning many generations – even hundreds or thousands of years ago.

However, autosomal DNA, which tests a subset of all of your DNA for the genealogical goal of matching to cousins and confirming ancestors is another matter entirely. Some of the information you discern from autosomal testing includes how closely you match, which effectively predicts a range of relationships to your match.

These matches are much more recent in time and do not reach back into the distant past. The more closely you are related, the more DNA you share, which means that your DNA is identifying your location in the family tree, regardless of the name you put on the test itself.

Now, let’s look at the difference between anonymization and pseudonymization.

It may seem trivial, but it isn’t.

Anonymization vs Pseudonymization

Recently, as a result of the European Union GDPR (General Data Protection Regulation,) we’ve heard a lot about privacy and pseudonymization, which is not the same as anonymized data.

Anonymized data must be entirely stripped of any identifiable information, making it impossible to derive insights on a discreet individual, even by the person or entity who performed the anonymization. In other words, anonymization cannot be reversed under any circumstances.

Given that the purpose of genetic genealogy conflicts with the concept of anonymization, the term pseudonymization is more properly applied to the situation where someone masks or replaces the name of the tester with the goal of hiding the identity of the person who is actually taking the test.

Pseudonymization under GDPR (Article 4(5)) is defined as “the processing of personal data in such a way that the data can no longer be attributed to a specific data subject without the use of ‘additional information.’”

In reality, pseudonymization is what has been occurring all along, because the tester could always be re-identified by you.

However, and this important, neither anonymization or pseudonymization can be guaranteed to disguise your identity anymore.

Anonymous Isn’t Anonymous Anymore

The situation with autosomal DNA and the expectation of anonymity has changed rather gradually over the past few years, but with tidal wave force recently with the coming-of-age of two related techniques:

  • The increasingly routine identification of biological parents
  • The Buckskin Girl and Golden State Killer cases in which a victim and suspect were identified in April 2018, respectively, by the same methodology used to identify biological parents

Therefore, with autosomal DNA results, meaning the raw data results file ONLY, neither total anonymity or any expectation of pseudonymization is reasonable or possible.

Why?

The reason is very simple.

The size of the data bases of the combined mainstream vendors has reached the point where it’s unusual, at least for US testers, to not have a reasonably close match with a relative that you did not personally test – meaning third cousin or closer. Using a variety of tools, including in-common-with matches and trees, it’s possible to discern or narrow down candidates to be either a biological parent, a crime victim or a suspect.

In essence, the only real difference between genetic genealogy searching, parent searches and victim/suspect searches is motivation. The underlying technique is exactly the same with only a few details that differ based on the goal.

You can read about the process used to identify the Golden State Killer here, and just a few days later, a second case, the Cook/Van Cuylenborg double homicide cold case in Snohomish County, Washington was solved utilizing the following family tree of the suspect whose DNA was utilized and matched the blue and pink cousins.

Provided by the Snohomish County Sheriff

A genealogist discovering those same matches, of course, would be focused on the common ancestors, not contemporary people or generations.

To identify present day individuals, meaning parents, victims or suspects, the researcher identifies the common ancestor and works their way forward in time. The genealogist, on the other hands, is focused on working backwards in time.

All three types of processes, genealogical, parent identification and law enforcement depend on identifying cousins that lead us to common ancestors.

At that point, the only question is whether we continue working backwards (genealogically) or begin working forwards in time from the common ancestors for either parent identification or law enforcement.

Given that the suspect’s or victim’s name or identifying information is not known, their DNA alone, in combination with the DNA of their matches can identify them uniquely (unless they are an identical twin,) or closely enough that targeted testing or non-genetic information will confirm the identification.

Sometimes, people newly testing discover that a parent, sibling or half sibling genetic match is just waiting for them and absolutely no analysis is necessary. You can read about the discovery of the identity of my brother’s biological family here and here.

Therefore, we cannot represent to Uncle Henry, especially when discussing autosomal DNA testing, that he can test and remain anonymous. He can’t. If there is a family secret, known or unknown to Uncle Henry, it’s likely to be exposed utilizing autosomal DNA and may be exposed utilizing either Y or mitochondrial DNA testing.

For the genealogist, this may cause Pavlovian drooling, but Uncle Henry may not be nearly so enthralled.

In Summary

Genealogical methods developed to identify currently living individuals has obsoleted the concept of genetic anonymity. You can see in the pedigree chart example below how the same match, in yellow, can lead to solving any of the three different scenarios we’ve discussed.

Click to enlarge any graphic

If the tester is Uncle Henry, you might discover that his parents weren’t his parents. You also might discover who his real parents were, when your intention was only to confirm your common great-grandparents. So much for that idea.

A match between Henry and a second cousin, in our example above, can also identify someone involved in a law enforcement situation – although today those very few and far between. Testing for law enforcement purposes is prohibited according to the terms and conditions of all 4 major testing vendors; Ancestry, 23andMe, Family Tree DNA and MyHeritage.

Currently law enforcement kits to identify either victims or suspects can be uploaded at GedMatch but only for violent crimes identified as either homicide or sexual assault, per their terms and conditions.

Furthermore, both 23andMe and Ancestry who previously reserved the right to anonymize your genetic information and sell or otherwise utilize that information in aggregated format no longer can do so under the new GDPR legislation without your specific consent. GDPR, while a huge pain in the behind for other reasons has returned the control of the consumer’s DNA to the consumer in these cases.

The loss of anonymity is the inevitable result of this industry maturing. That’s good news for genetic genealogy. It means we now have lots of matches – sometimes more than we can keep up with!

Because of those matches, we know that if we test our DNA, or that of a family member, our DNA plus the common DNA shared with many of our relatives is enough to identify us, or them. That’s not news to genealogists, but it might be to Uncle Henry, so don’t tell him that he can be anonymous anymore.

You can pseudonymize accounts to some extent by masking Uncle Henry’s name or using your name. Managing accounts for the same reasons of convenience that you always did is just fine! We just need to explain the current privacy situation to Uncle Henry when asking permission to test or to upload his raw data file to GedMatch (or anyplace else,) because ultimately, Uncle Henry’s DNA leads to Uncle Henry, no matter whose name is on the account.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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GDPR, DNAeXplain and DNA-Explained.com

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GDPR, the General Data Protection Regulation enacted by the European Union as of May 25, 2018 is upon us. It’s important because GDPR applies to information held or processed about any European Union resident, and I know many of my customers and blog followers live in the EU or UK.

I recently wrote about GDPR in these articles:

GDPR sets forth both rights of individuals as to the processing and storage of their information and responsibilities of processors.

DNAeXplain.com and DNA-Explained.com are a genetic genealogy consulting business and associated blog, respectively, located in the United States and owned by Roberta Estes. You’re receiving this notification because you are a blog follower or subscriber to explain how I process and/or handle your information.

The DNAeXplain Website

Customers can place orders on the DNAeXplain website for Y DNA and Mitochondrial DNA Personalized Reports, along with consultations. The website itself does not collect any information about customers other than payment information which is processed through our shopping cart at PayPal, including credit card transactions. DNAeXplain is never in receipt of your financial or credit card information. We can process a refund through PayPal, subject to their terms and conditions, through a unique PayPal issued transaction ID, but PayPal is the sole recipient of your payment/financial information.

Please refer to the Paypal Privacy Policy here.

DNAeXplain only receives notification confirmation from PayPal that you have made a purchase, the amount paid, for what item and your e-mail address that you used when making the purchase to enable us to communicate with you.

Reports and Consulting Information

The customer must provide enough information to DNAeXplain in order to complete the purchased report or answer the question(s) posed in the consultation. This is accomplished through e-mail communication.

This information exchange is completely private and is not shared either publicly or privately outside of DNAeXplain. The completed report is subsequently e-mailed only to the purchaser of record.

GDPR requires me to explain how you have granted consent for me to process your information and when processing starts and stops. You grant consent when you purchase a Personalized DNA Report or when you purchase consulting and subsequently provide me with the information necessary to write the report or answer your questions. I begin processing your information when I answer your questions or begin your report, and I’m finished processing your information when I finish the report or the consultation. I’m sure you’ve already figured that out, but I’m required to tell you.

Completed reports are retained by DNAeXplain for some time after completion in case a customer misplaces their report and requests a replacement of the original. Although we will attempt to provide a replacement of the original report, at no cost, we do not guarantee availability beyond 30 days after delivery. Industry standard backup and security procedures are in place to protect customer information.

Customers may request the deletion of all reports and correspondence by sending an e-mail to roberta@dnaexplain.com and customer information will be entirely deleted within 30 days, except for the customer purchase record which we are required by law to maintain for accounting purposes.

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You may simply be reading an article on the http://www.dna-explained.com blog, or you may be a subscriber.

DNA-Explained.com utilizes WordPress.com as our blogging platform, without any additional plugins like JetPack or others mentioned on the WordPress Resource site, here.

WordPress is owned by AUTOMATTIC. Their privacy notice for WordPress bloggers  explains more about WordPress and how AUTOMATTIC uses information.

AUTOMATTIC’s privacy policy for visitors to their users’ sites (DNA-Explained.com in this case) is available here.

Comments made to the blog are public and are shown publicly if approved along with the name you use to comment, but not your e-mail or any other identifying information. Some comments may be caught by the blog’s spam filter, and others may not be approved, but once approved and displayed, comments are visible publicly.

You may request to be notified of comments to blog articles, and if you do, you will receive notifications from WordPress, not from DNA-Explained directly.

You may unsubscribe at any time by clicking unsubscribe at the bottom of any e-mail notification or you may unsubscribe by managing your subscriptions at WordPress.

Your e-mail address used to subscribe to the blog is available to me, the blog owner, at WordPress and in each comment notification, along with your IP address and website, if you are commenting through your own website. I do not store or otherwise utilize your e-mail or other identifying information, with the exception of occasionally replying to a commenter personally. In some cases, if personal information is exposed within a comment, I reply to the commenter privately and do not approve the comment. I delete all comment notifications immediately upon approving or otherwise processing the comment.

If a comment contains any type of threatening, emergency or potentially harmful verbiage, towards me, the commenter themselves or another commenter, I will retain the comment and identifying information and report to the proper authorities without delay.

I do not share, sell or otherwise utilize your personal information.

You may request deletion of all of your personal information from the blog and from WordPress by contacting me at Roberta@dnaexplain.com or WordPress directly at privacypolicyupdates@automattic.com.

Have you contacted me and WordPress both and you’re still unhappy? EU residents have the right to make a complaint to a government supervisory authority. I know that’s not going to happen, but I have to tell you just the same!

Housekeeping

This information lives permanently on the Privacy tab on the DNA-Explained blog. In fact, it’s already there. Please refer to that location for updates and future developments.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

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Genealogy Research

2017 – The Year of DNA

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Every year for the past 17 years has been the year of DNA for me, but for many millions, 2017 has been the year of DNA. DNA testing has become a phenomenon in its own right.

It was in 2013 that Spencer Wells predicted that 2014 would be the “year of infection.” Spencer was right and in 2014 DNA joined the ranks of household words. I saw DNA in ads that year, for the first time, not related to DNA testing or health as in, “It’s in our DNA.”

In 2014, it seemed like most people had heard of DNA, even if they weren’t all testing yet. John Q. Public was becoming comfortable with DNA.

In 2017 – DNA Is Mainstream  

If you’re a genealogist, you certainly know about DNA testing, and you’re behind the times if you haven’t tested.  DNA testing is now an expected tool for genealogists, and part of a comprehensive proof statement that meets the genealogical proof standard which includes “a reasonably exhaustive search.”  If you haven’t applied DNA, you haven’t done a reasonably exhaustive search.

A paper trail is no longer sufficient alone.

When I used to speak to genealogy groups about DNA testing, back in the dark ages, in the early 2000s, and I asked how many had tested, a few would raise their hands – on a good day.

In October, when I asked that same question in Ireland, more than half the room raised their hand – and I hope the other half went right out and purchased DNA test kits!

Consequently, because the rabid genealogical market is now pretty much saturated, the DNA testing companies needed to find a way to attract new customers, and they have.

2017 – The Year of Ethnicity

I’m not positive that the methodology some of the major companies utilized to attract new consumers is ideal, but nonetheless, advertising has attracted many new people to genetic genealogy through ethnicity testing.

If you’re a seasoned genetic genealogist, I know for sure that you’re groaning now, because the questions that are asked by disappointed testers AFTER the results come back and aren’t what people expected find their way to the forums that genetic genealogists peruse daily.

I wish those testers would have searched out those forums, or read my comparative article about ethnicity tests and which one is “best” before they tested.

More ethnicity results are available from vendors and third parties alike – just about every place you look it seems.  It appears that lots of folks think ethnicity testing is a shortcut to instant genealogy. Spit, mail, wait and voila – but there is no shortcut.  Since most people don’t realize that until after they test, ethnicity testing is becoming ever more popular with more vendors emerging.

In the spring, LivingDNA began delivering ethnicity results and a few months later, MyHeritage as well.  Ethnicity is hot and companies are seizing a revenue opportunity.

Now, the good news is that perhaps some of these new ethnicity testers can be converted into genealogists.  We just have to view ethnicity testing as tempting bait, or hopefully, a gateway drug…

2017 – The Year of Explosive Growth

DNA testing has become that snowball rolling downhill that morphed into an avalanche.  More people are seeing commercials, more people are testing, and people are talking to friends and co-workers at the water cooler who decide to test. I passed a table of diners in Germany in July to overhear, in English, discussion about ethnicity-focused DNA testing.

If you haven’t heard of DTC, direct to consumer, DNA testing, you’re living under a rock or maybe in a third world country without either internet or TV.

Most of the genetic genealogy companies are fairly closed-lipped about their data base size of DNA testers, but Ancestry isn’t.  They have gone from about 2 million near the end of 2016 to 5 million in August 2017 to at least 7 million now.  They haven’t said for sure, but extrapolating from what they have said, I feel safe with 7 million as a LOW estimate and possibly as many as 10 million following the holiday sales.

Advertising obviously pays off.

MyHeritage recently announced that their data base has reached 1 million, with only about 20% of those being transfers.

Based on the industry rumble, I suspect that the other DNA testing companies have had banner years as well.

The good news is that all of these new testers means that anyone who has tested at any of the major vendors is going to get lots of matches soon. Santa, it seems, has heard about DNA testing too and test kits fit into stockings!

That’s even better news for all of us who are in multiple data bases – and even more reason to test at all of the 4 major companies who provide autosomal DNA matching for their customers: Family Tree DNA, Ancestry, MyHeritage and 23andMe.

2017 – The Year of Vendor and Industry Churn

So much happened in 2017, it’s difficult to keep up.

  • MyHeritage entered the DNA testing arena and began matching in September of 2016. Frankly, they had a mess, but they have been working in 2017 to improve the situation.  Let’s just say they still have some work to do, but at least they acknowledge that and are making progress.
  • MyHeritage has a rather extensive user base in Europe. Because of their European draw, their records collections and the ability to transfer results into their data base, they have become the 4th vendor in a field that used to be 3.
  • In March 2017, Family Tree DNA announced that they were accepting transfers of both the Ancestry V2 test, in place since May of 2016, along with the 23andMe V4 test, available since November 2013, for free. MyHeritage has since been added to that list. The Family Tree DNA announcement provided testers with another avenue for matching and advanced tools.
  • Illumina obsoleted their OmniExpress chip, forcing vendors to Illumina’s new GSA chip which also forces vendors to use imputation. I swear, imputation is a swear word. Illumina gets the lump of coal award for 2017.
  • I wrote about imputation here, but in a nutshell, the vendors are now being forced to test only about 20% of the DNA locations available on the previous Illumina chip, and impute or infer using statistics the values in the rest of the DNA locations that they previously could test.
  • Early imputation implementers include LivingDNA (ethnicity only), MyHeritage (to equalize the locations of various vendor’s different chips), DNA.Land (whose matching is far from ideal) and 23andMe, who seems, for the most part, to have done a reasonable job. Of course, the only way to tell for sure at 23andMe is to test again on the V5 chip and compare to V3 and V4 chip matches. Given that I’ve already paid 3 times to test myself at 23andMe (V2, 3 and 4), I’m not keen on paying a 4th time for the V5 version.
  • 23andMe moved to the V5 Illumina GSA chip in August which is not compatible with any earlier chip versions.
  • Needless to say, the Illumina chip change has forced vendors away from focusing on new products in order to develop imputation code in order to remain backwards compatible with their own products from an earlier chip set.
  • GedMatch introduced their sandbox area, Genesis, where people can upload files that are not compatible with the traditional vendor files.  This includes the GSA chip results (23andMe V5,) exome tests and others.  The purpose of the sandbox is so that GedMatch can figure out how to work with these files that aren’t compatible with the typical autosomal test files.  The process has been interesting and enlightening, but people either don’t understand or forget that it’s a sandbox, an experiment, for all involved – including GedMatch.  Welcome to living on the genetic frontier!

  • I assembled a chart of who loves who – meaning which vendors accept transfers from which other vendors.

  • I suspect but don’t know that Ancestry is doing some form of imputation between their V1 and V2 chips. About a month before their new chip implementation in May of 2016, Ancestry made a change in their matching routine that resulting in a significant shift in people’s matches.

Because of Ancestry’s use of the Timber algorithm to downweight some segments and strip out others altogether, it’s difficult to understand where matching issues may arise.  Furthermore, there is no way to know that there are matching issues unless you and another individual have transferred results to either Family Tree DNA or GedMatch, neither of which remove any matching segments.

  • Other developments of note include the fact that Family Tree DNA moved to mitochondrial DNA build V17 and updated their Y DNA to hg38 of the human reference genome – both huge undertakings requiring the reprocessing of customer data. Think of both of those updates as housekeeping. No one wants to do it, but it’s necessary.
  • 23andMe FINALLY finished transferring their customer base to the “New Experience,” but many of the older features we liked are now gone. However, customers can now opt in to open matching, which is a definite improvement. 23andMe, having been the first company to enter the genetic genealogy autosomal matching marketspace has really become lackluster.  They could have owned this space but chose not to focus on genealogy tools.  In my opinion, they are now relegated to fourth place out of a field of 4.
  • Ancestry has updated their Genetic Communities feature a couple of times this year. Genetic Communities is interesting and more helpful than ethnicity estimates, but neither are nearly as helpful as a chromosome browser would be.

  • I’m sure that the repeated requests, begging and community level tantrum throwing in an attempt to convince Ancestry to produce a chromosome browser is beyond beating a dead horse now. That dead horse is now skeletal, and no sign of a chromosome browser. Sigh:(
  • The good news is that anyone who wants a chromosome browser can transfer their results to Family Tree DNA or GedMatch (both for free) and utilize a chromosome browser and other tools at either or both of those locations. Family Tree DNA charges a one time $19 fee to access their advanced tools and GedMatch offers a monthly $10 subscription. Both are absolutely worth every dime. The bad news is, of course, that you have to convince your match or matches to transfer as well.
  • If you can convince your matches to transfer to (or test at) Family Tree DNA, their tools include phased Family Matching which utilizes a combination of user trees, the DNA of the tester combined with the DNA of family matches to indicate to the user which side, maternal or paternal (or both), a particular match stems from.

  • Sites to keep your eye on include Jonny Perl’s tools which include DNAPainter, as well as Goran Rundfeldt’s DNA Genealogy Experiment.  You may recall that in October Goran brought us the fantastic Triangulator tool to use with Family Tree DNA results.  A few community members expressed concern about triangulation relative to privacy, so the tool has been (I hope only temporarily) disabled as the involved parties work through the details. We need Goran’s triangulation tool! Goran has developed other world class tools as well, as you can see from his website, and I hope we see more of both Goran and Jonny in 2018.
  • In 2017, a number of new “free” sites that encourage you to upload your DNA have sprung up. My advice – remember, there really is no such thing as a free lunch.  Ask yourself why, what’s in it for them.  Review ALL OF THE documents and fine print relative to safety, privacy and what is going to be done with your DNA.  Think about what recourse you might or might not have. Why would you trust them?

My rule of thumb, if the company is outside of the US, I’m immediately slightly hesitant because they don’t fall under US laws. If they are outside of Europe or Canada, I’m even more hesitant.  If the company is associated with a country that is unfriendly to the US, I unequivocally refuse.  For example, riddle me this – what happens if a Chinese (or fill-in-the-blank country) company violates an agreement regarding your DNA and privacy?  What, exactly, are you going to do about it from wherever you live?

2017 – The Year of Marketplace Apps

Third party genetics apps are emerging and are beginning to make an impact.

GedMatch, as always, has continued to quietly add to their offerings for genetic genealogists, as had DNAGedcom.com. While these two aren’t exactly an “app”, per se, they are certainly primary players in the third party space. I use both and will be publishing an article early in 2018 about a very useful tool at DNAGedcom.

Another application that I don’t use due to the complex setup (which I’ve now tried twice and abandoned) is Genome Mate Pro which coordinates your autosomal results from multiple vendors.  Some people love this program.  I’ll try, again, in 2018 and see if I can make it all the way through the setup process.

The real news here are the new marketplace apps based on Exome testing.

Helix and their partners offer a number of apps that may be of interest for consumers.  Helix began offering a “test once, buy often” marketplace model where the consumer pays a nominal price for exome sequencing ($80), significantly under market pricing ($500), but then the consumer purchases DNA apps through the Helix store. The apps access the original DNA test to produce results. The consumer does NOT receive their downloadable raw data, only data through the apps, which is a departure from the expected norm. Then again, the consumer pays a drastically reduced price and downloadable exome results are available elsewhere for full price.

The Helix concept is that lots of apps will be developed, meaning that you, the consumer, will be interested and purchase often – allowing Helix to recoup their sequencing investment over time.

Looking at the Helix apps that are currently available, I’ve purchased all of the Insitome products released to date (Neanderthal, Regional Ancestry and Metabolism), because I have faith in Spencer Wells and truthfully, I was curious and they are reasonably priced.

Aside from the Insitome apps, I think that the personalized clothes are cute, if extremely overpriced. But what the heck, they’re fun and raise awareness of DNA testing – a good thing! After all, who am I to talk, I’ve made DNA quilts and have DNA clothing too.

Having said that, I’m extremely skeptical about some of the other apps, like “Wine Explorer.”  Seriously???

But then again, if you named an app “I Have More Money Than Brains,” it probably wouldn’t sell well.

Other apps, like Ancestry’s WeRelate (available for smartphones) is entertaining, but is also unfortunately EXTREMELY misleading.  WeRelate conflates multiple trees, generally incorrectly, to suggest to you and another person on your Facebook friends list are related, or that you are related to famous people.  Judy Russell reviews that app here in the article, “No, actually, we’re not related.” No.  Just no!

I feel strongly that companies that utilize our genetic data for anything have a moral responsibility for accuracy, and the WeRelate app clearly does NOT make the grade, and Ancestry knows that.  I really don’t believe that entertaining customers with half-truths (or less) is more important than accuracy – but then again, here I go just being an old-fashioned fuddy dud expecting ethics.

And then, there’s the snake oil.  You knew it was going to happen because there is always someone who can be convinced to purchase just about anything. Think midnight infomercials. The problem is that many consumers really don’t know how to tell snake oil from the rest in the emerging DNA field.

You can now purchase DNA testing for almost anything.  Dating, diet, exercise, your taste in wine and of course, vitamins and supplements. If you can think of an opportunity, someone will dream up a test.

How many of these are legitimate or valid?  Your guess is as good as mine, but I’m exceedingly suspicious of a great many, especially those where I can find no legitimate scientific studies to back what appear to be rather outrageous claims.

My main concern is that the entire DTC testing industry will be tarred by the brush of a few unethical opportunists.

2017 – The Year of Focus on Privacy and Security

With increased consumer exposure comes increased notoriety. People are taking notice of DNA testing and it seems that everyone has an opinion, informed or not.  There’s an old saying in marketing; “Talk about me good, talk about me bad, just talk about me.”

With all of the ads have come a commensurate amount of teeth gnashing and “the-sky-is-falling” type reporting.  Unfortunately, many politicians don’t understand this industry and open mouth only to insert foot – except that most people don’t realize what they’ve done.  I doubt that the politicians even understand that they are tasting toe-jam, because they haven’t taken the time to research and understand the industry. Sound bites and science don’t mix well.

The bad news is that next, the click-bait-focused press picks up on the stories and the next time you see anyone at lunch, they’re asking you if what they heard is true.  Or, let’s hope that they ask you instead of just accepting what they heard as gospel. Hopefully if we’ve learned anything in this past year, it’s to verify, verify, verify.

I’ve been an advocate for a very long time of increased transparency from the testing companies as to what is actually done with our DNA, and under what circumstances.  In other words, I want to know where my DNA is and what it’s being used for.  Period.

Family Tree DNA answered that question succinctly and unquestionably in December.

Bennett Greenspan: “We could probably make a lot of money by selling the DNA data that we’ve been collecting over the years, but we feel that the only person that should have your DNA information is you.  We don’t believe that it should be sold, traded or bartered.”

You can’t get more definitive than that.

DTC testing for genetic genealogy must be a self-regulating field, because the last thing we need is for the government to get involved, attempting to regulate something they don’t understand.  I truly believe government interference by the name of regulation would spell the end of genetic genealogy as we know it today.  DNA testing for genetic genealogy without sharing results is entirely pointless.

I’ve written about this topic in the past, but an update is warranted and I’ll be doing that sometime after the first of the year.  Mostly, I just need to be able to stay awake while slogging through the required reading (at some vendor sites) of page after page AFTER PAGE of legalese😊

Consumers really shouldn’t have to do that, and if they do, a short, concise summary should be presented to them BEFORE they purchase so that they can make a truly informed decision.

Stay tuned on this one.

2017 – The Year of Education

The fantastic news is that with all of the new people testing, a huge, HUGE need for education exists.  Even if 75% of the people who test don’t do anything with their results after that first peek, that still leaves a few million who are new to this field, want to engage and need some level of education.

In that vein, seminars are available through several groups and institutes, in person and online.  Almost all of the leadership in this industry is involved in some educational capacity.

In addition to agendas focused on genetic genealogy and utilizing DNA personally, almost every genealogy conference now includes a significant number of sessions on DNA methods and tools. I remember the days when we were lucky to be allowed one session on the agenda, and then generally not without begging!

When considering both DNA testing and education, one needs to think about the goal.  All customer goals are not the same, and neither are the approaches necessary to answer their questions in a relevant way.

New testers to the field fall into three primary groups today, and their educational needs are really quite different, because their goals, tools and approaches needed to reach those goals are different too.

Adoptees and genealogists employ two vastly different approaches utilizing a common tool, DNA, but for almost opposite purposes.  Adoptees wish to utilize tests and trees to come forward in time to identify either currently living or recently living people while genealogists are interested in reaching backward in time to confirm or identify long dead ancestors. Those are really very different goals.

I’ve illustrated this in the graphic above.  The tester in question uses their blue first cousin match to identify their unknown parent through the blue match’s known lineage, moving forward in time to identify the tester’s parent.  In this case, the grandparent is known to the blue match, but not to the yellow tester. Identifying the grandparent through the blue match is the needed lynchpin clue to identify the unknown parent.

The yellow tester who already knows their maternal parent utilizes their peach second cousin match to verify or maybe identify their maternal great-grandmother who is already known to the peach match, moving backwards in time. Two different goals, same DNA test.

The three types of testers are:

  • Curious ethnicity testers who may not even realize that at least some of the vendors offer matching and other tools and services.
  • Genealogists who use close relatives to prove which sides of trees matches come from, and to triangulate matching segments to specific ancestors. In other words, working from the present back in time. The peach match and line above.
  • Adoptees and parent searches where testers hope to find a parent or siblings, but failing that, close relatives whose trees overlap with each other – pointing to a descendant as a candidate for a parent. These people work forward in time and aren’t interested in triangulation or proving ancestors and really don’t care about any of those types of tools, at least not until they identify their parent.  This is the blue match above.

What these various groups of testers want and need, and therefore their priorities are different in terms of their recommendations and comments in online forums and their input to vendors. Therefore, you find Facebook groups dedicated to Adoptees, for example, but you also find adoptees in more general genetic genealogy groups where genealogists are sometimes surprised when people focused on parent searches downplay or dismiss tools such as Y DNA, mitochondrial DNA and chromosome browsers that form the bedrock foundation of what genealogists need and require.

Fortunately, there’s room for everyone in this emerging field.

The great news is that educational opportunities are abundant now. I’m listing a few of the educational opportunities for all three groups of testers, in addition to my blog of course.😊

Remember that this blog is fully searchable by keyword or phrase in the little search box in the upper right hand corner.  I see so many questions online that I’ve already answered!

Please feel free to share links of my blog postings with anyone who might benefit!

Note that these recommendations below overlap and people may well be interested in opportunities from each group – or all!!

Ethnicity

Adoptees or Parent Search

Genetic Genealogists

2018 – What’s Ahead? 

About midyear 2018, this blog will reach 1000 published articles. This is article number 939.  That’s amazing even to me!  When I created this blog in July of 2012, I wasn’t sure I’d have enough to write about.  That certainly has changed.

Beginning shortly, the tsunami of kits that were purchased during the holidays will begin producing matches, be it through DNA upgrades at Family Tree DNA, Big Y tests which were hot at year end, or new purchases through any of the vendors.  I can hardly wait, and I have my list of brick walls that need to fall.

Family Tree DNA will be providing additional STR markers extracted from the Big Y test. These won’t replace any of the 111 markers offered separately today, because the extraction through NGS testing is not as reliable as direct STR testing for those markers, but the Big Y will offer genealogists a few hundred more STRs to utilize. Yes, I said a few hundred. The exact number has not yet been finalized.

Family Tree DNA says they will also be introducing new “qualify of life improvements” along with new privacy and consent settings.  Let’s hope this means new features and tools will be released too.

MyHeritage says that they are introducing new “Discoveries” pages and a chromosome browser in January.  They have also indicated that they are working on their matching issues.  The chromosome browser is particularly good news, but matching must work accurately or the chromosome browser will show erroneous information.  Let’s hope January brings all three features.

LivingDNA indicates that they will be introducing matching in 2018.

2018 – What Can You Do?

What can you do in 2018 to improve your odds of solving genealogy questions?

  • Test relatives
  • Transfer your results to as many data bases as possible (among the ones discussed above, after reading the terms and conditions, of course)
  • If you have transferred a version of your DNA that does not produce full results, such as the Ancestry V2 or 23andMe V4 test to Family Tree DNA, consider testing on the vendor’s own chip in order to obtain all matches, not just the closest matches available from an incompatible test transfer.
  • Test Y and mitochondrial DNA at Family Tree DNA.
  • Find ways to share the stories of your ancestors.  Stories are cousin bait.  My 52 Ancestors series is living proof.  People find the stories and often have additional facts, information or even photos. Some contacts qualify for DNA testing for Y or mtDNA lines. The GREAT NEWS is that Amy Johnson Crow is resuming the #52Ancestors project for 2018, providing hints and tips each week! Who knows what you might discover by sharing?! Here’s how to start a blog if you need some assistance.  It’s easy – really!
  • Focus on the brick walls that you want to crumble and then put together both a test and analysis plan. That plan could include such things as:

o   Find out if a male representing a Y line in your tree has tested, and if not, search through autosomal results to see if a male from that paternal surname line has tested and would be amenable to an upgrade.

o   Mitochondrial DNA test people who descend through all females from various female ancestors in order to determine their origins. Y and mtDNA tests are an important part of a complete genealogy story – meaning the reasonably exhaustive search!

o   Autosomal DNA test family members from various lines with the hope that matches will match you and them both.

o   Test family members in order to confirm a particular ancestor – preferably people who descend from another child of that ancestor.

o   Making sure your own DNA is in all 4 of the major vendors’ data bases, plus GedMatch. Look at it this way, everyone who is at GedMatch or at a third party (non-testing) site had to have tested at one of the major 4 vendors – so if you are in all of the vendor’s data bases, plus GedMatch, you’re covered.

Have a wonderful New Year and let’s make 2018 the year of newly discovered ancestors and solved mysteries!

______________________________________________________________

Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

The Best and Worst of 2015 – Genetic Genealogy Year in Review

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2015 Best and Worst

For the past three years I’ve written a year-in-review article. You can see just how much the landscape has changed in the 2012, 2013 and 2014 versions.

This year, I’ve added a few specific “award” categories for people or firms that I feel need to be specially recognized as outstanding in one direction or the other.

In past years, some news items, announcements and innovations turned out to be very important like the Genographic Project and GedMatch, and others, well, not so much. Who among us has tested their full genome today, for example, or even their exome?  And would you do with that information if you did?

And then there are the deaths, like the Sorenson database and Ancestry’s own Y and mitochondrial data base. I still shudder to think how much we’ve lost at the corporate hands of Ancestry.

In past years, there have often been big new announcements facilitated by new technology. In many ways, the big fish have been caught in a technology sense.  Those big fish are autosomal DNA and the Big Y types of tests.  Both of these have created an avalanche of data and we, personally and as a community, are still trying to sort through what all of this means genealogically and how to best utilize the information.  Now we need tools.

This is probably illustrated most aptly by the expansion of the Y tree.

The SNP Tsunami Growing Pains Continue

2015 snp tsunami

Going from 800+ SNPs in 2012 to more than 35,000 SNPs today has introduced its own set of problems. First, there are multiple trees in existence, completely or partially maintained by different organizations for different purposes.  Needless to say, these trees are not in sync with each other.  The criteria for adding a SNP to the tree is decided by the owner or steward of that tree, and there is no agreement as to the definition of a valid SNP or how many instances of that SNP need to be in existence to be added to the tree.

This angst has been taking place for the most part outside of the public view, but it exists just the same.

For example, 23andMe still uses the old haplogroup names like R1b which have not been used in years elsewhere. Family Tree DNA is catching up with updating their tree, working with haplogroup administrators to be sure only high quality, proven SNPs are added to branches.  ISOGG maintains another tree (one branch shown above) that’s publicly available, utilizing volunteers per haplogroup and sometimes per subgroup.  Other individuals and organizations maintain other trees, or branches of trees, some very accurate and some adding a new “branch” with as little as one result.

The good news is that this will shake itself out. Personally, I’m voting for the more conservative approach for public reference trees to avoid “pollution” and a lot of shifting and changing downstream when it’s discovered that the single instance of a SNP is either invalid or in a different branch location.  However, you have to start with an experimental or speculative tree before you can prove that a SNP is where it belongs or needs to be moved, so each of the trees has its own purpose.

The full trees I utilize are the Family Tree DNA tree, available for customers, the ISOGG tree and Ray Banks’ tree which includes locations where the SNPs are found when the geographic location is localized. Within haplogroup projects, I tend to use a speculative tree assembled by the administrators, if one is available.  The haplogroup admins generally know more about their haplogroup or branch than anyone else.

The bad news is that this situation hasn’t shaken itself out yet, and due to the magnitude of the elephant at hand, I don’t think it will anytime soon. As this shuffling and shaking occurs, we learn more about where the SNPs are found today in the world, where they aren’t found, which SNPs are “family” or “clan” SNPs and the timeframes in which they were born.

In other words, this is a learning process for all involved – albeit a slow and frustrating one. However, we are making progress and the tree becomes more robust and accurate every year.

We may be having growing pains, but growing pains aren’t necessarily a bad thing and are necessary for growth.

Thank you to the hundreds of volunteers who work on these trees, and in particular, to Alice Fairhurst who has spearheaded the ISOGG tree for the past nine years. Alice retired from that volunteer position this year and is shown below after receiving two much-deserved awards for her service at the Family Tree DNA Conference in November.

2015 ftdna fairhurst 2

Best Innovative Use of Integrated Data

2015 smileDr. Maurice Gleeson receives an award this year for the best genealogical use of integrated types of data. He has utilized just about every tool he can find to wring as much information as possible out of Y DNA results.  Not only that, but he has taken great pains to share that information with us in presentations in the US and overseas, and by creating a video, noted in the article below.  Thanks so much Maurice.

Making Sense of Y Data

Estes pedigree

The advent of massive amounts of Y DNA data has been both wonderful and perplexing. We as genetic genealogists want to know as much about our family as possible, including what the combination of STR and SNP markers means to us.  In other words, we don’t want two separate “test results” but a genealogical marriage of the two.

I took a look at this from the perspective of the Estes DNA project. Of course, everyone else will view those results through the lens of their own surname or haplogroup project.

Estes Big Y DNA Results
http://dna-explained.com/2015/03/26/estes-big-y-dna-results/

At the Family Tree DNA Conference in November, James Irvine and Maurice Gleeson both presented sessions on utilizing a combination of STR and SNP data and various tools in analyzing their individual projects.

Maurice’s presentation was titled “Combining SNPs, STRs and Genealogy to build a Surname Origins Tree.”
http://www.slideshare.net/FamilyTreeDNA/building-a-mutation-history-tree

Maurice created a wonderful video that includes a lot of information about working with Y DNA results. I would consider this one of the very best Y DNA presentations I’ve ever seen, and thanks to Maurice, it’s available as a video here:
https://www.youtube.com/watch?v=rvyHY4R6DwE&feature=youtu.be

You can view more of Maurice’s work at:
http://gleesondna.blogspot.com/2015/08/genetic-distance-genetic-families.html

James Irvine’s presentation was titled “Surname Projects – Some Fresh Ideas.” http://www.slideshare.net/FamilyTreeDNA/y-dna-surname-projects-some-fresh-ideas

Another excellent presentation discussing Y DNA results was “YDNA maps Scandinavian Family Trees from Medieval Times and the Viking Age” by Peter Sjolund.
http://www.slideshare.net/FamilyTreeDNA/ydna-maps-scandinavian-family-trees-from-medieval-times-and-the-viking-age

Peter’s session at the genealogy conference in Sweden this year was packed. This photo, compliments of Katherine Borges, shows the room and the level of interest in Y-DNA and the messages it holds for genetic genealogists.

sweden 2015

This type of work is the wave of the future, although hopefully it won’t be so manually intensive. However, the process of discovery is by definition laborious.  From this early work will one day emerge reproducible methodologies, the fruits of which we will all enjoy.

Haplogroup Definitions and Discoveries Continue

A4 mutations

Often, haplogroup work flies under the radar today and gets dwarfed by some of the larger citizen science projects, but this work is fundamentally important. In 2015, we made discoveries about haplogroups A4 and C, for example.

Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American
http://dna-explained.com/2015/03/05/haplogroup-a4-unpeeled-european-jewish-asian-and-native-american/

New Haplogroup C Native American Subgroups
http://dna-explained.com/2015/03/11/new-haplogroup-c-native-american-subgroups/

Native American Haplogroup C Update – Progress
http://dna-explained.com/2015/08/25/native-american-haplogroup-c-update-progress/

These aren’t the only discoveries, by any stretch of the imagination. For example, Mike Wadna, administrator for the Haplogroup R1b Project reports that there are now over 1500 SNPs on the R1b tree at Family Tree DNA – which is just about twice as many as were known in total for the entire Y tree in 2012 before the Genographic project was introduced.

The new Y DNA SNP Packs being introduced by Family Tree DNA which test more than 100 SNPs for about $100 will go a very long way in helping participants obtain haplogroup assignments further down the tree without doing the significantly more expensive Big Y test. For example, the R1b-DF49XM222 SNP Pack tests 157 SNPs for $109.  Of course, if you want to discover your own private line of SNPs, you’ll have to take the Big Y.  SNP Packs can only test what is already known and the Big Y is a test of discovery.

                       Best Blog2015 smile

Jim Bartlett, hands down, receives this award for his new and wonderful blog, Segmentology.

                             Making Sense of Autosomal DNA

segmentology

Our autosomal DNA results provide us with matches at each of the vendors and at GedMatch, but what do we DO with all those matches and how to we utilize the genetic match information? How to we translate those matches into ancestral information.  And once we’ve assigned a common ancestor to a match with an individual, how does that match affect other matches on that same segment?

2015 has been the year of sorting through the pieces and defining terms like IBS (identical by state, which covers both identical by population and identical by chance) and IBD (identical by descent). There has been a lot written this year.

Jim Bartlett, a long-time autosomal researcher has introduced his new blog, Segmentology, to discuss his journey through mapping ancestors to his DNA segments. To the best of my knowledge, Jim has mapped more of his chromosomes than any other researcher, more than 80% to specific ancestors – and all of us can leverage Jim’s lessons learned.

Segmentology.org by Jim Bartlett
http://dna-explained.com/2015/05/12/segmentology-org-by-jim-bartlett/

When you visit Jim’s site, please take a look at all of his articles. He and I and others may differ slightly in the details our approach, but the basics are the same and his examples are wonderful.

Autosomal DNA Testing – What Now?
http://dna-explained.com/2015/08/07/autosomal-dna-testing-101-what-now/

Autosomal DNA Testing 101 – Tips and Tricks for Contact Success
http://dna-explained.com/2015/08/11/autosomal-dna-testing-101-tips-and-tricks-for-contact-success/

How Phasing Works and Determining IBS vs IBD Matches
http://dna-explained.com/2015/01/02/how-phasing-works-and-determining-ibd-versus-ibs-matches/

Just One Cousin
http://dna-explained.com/2015/01/11/just-one-cousin/

Demystifying Autosomal DNA Matching
http://dna-explained.com/2015/01/17/demystifying-autosomal-dna-matching/

A Study Using Small Segment Matching
http://dna-explained.com/2015/01/21/a-study-utilizing-small-segment-matching/

Finally, A How-To Class for Working with Autosomal Results
http://dna-explained.com/2015/02/10/finally-a-how-to-class-for-working-with-autosomal-dna-results/

Parent-Child Non-Matching Autosomal DNA Segments
http://dna-explained.com/2015/05/14/parent-child-non-matching-autosomal-dna-segments/

A Match List Does Not an Ancestor Make
http://dna-explained.com/2015/05/19/a-match-list-does-not-an-ancestor-make/

4 Generation Inheritance Study
http://dna-explained.com/2015/08/23/4-generation-inheritance-study/

Phasing Yourself
http://dna-explained.com/2015/08/27/phasing-yourself/

Autosomal DNA Matching Confidence Spectrum
http://dna-explained.com/2015/09/25/autosomal-dna-matching-confidence-spectrum/

Earlier in the year, there was a lot of discussion and dissention about the definition of and use of small segments. I utilize them, carefully, generally in conjunction with larger segments.  Others don’t.  Here’s my advice.  Don’t get yourself hung up on this.  You probably won’t need or use small segments until you get done with the larger segments, meaning low-hanging fruit, or unless you are doing a very specific research project.  By the time you get to that point, you’ll understand this topic and you’ll realize that the various researchers agree about far more than they disagree, and you can make your own decision based on your individual circumstances. If you’re entirely endogamous, small segments may just make you crazy.  However, if you’re chasing a colonial American ancestor, then you may need those small segments to identify or confirm that ancestor.

It is unfortunate, however, that all of the relevant articles are not represented in the ISOGG wiki, allowing people to fully educate themselves. Hopefully this can be updated shortly with the additional articles, listed above and from Jim Bartlett’s blog, published during this past year.

Recreating the Dead

James Crumley overlapping segments

James and Catherne Crumley segments above, compliments of Kitty Cooper’s tools

As we learn more about how to use autosomal DNA, we have begun to reconstruct our ancestors from the DNA of their descendants. Not as in cloning, but as in attributing DNA found in multiple descendants that originate from a common ancestor, or ancestral couple.  The first foray into this arena was GedMatch with their Lazarus tool.

Lazarus – Putting Humpty Dumpty Back Together Again
http://dna-explained.com/2015/01/14/lazarus-putting-humpty-dumpty-back-together-again/

I have taken a bit of a different proof approach wherein I recreated an ancestor, James Crumley, born in 1712 from the matching DNA of roughly 30 of his descendants.
http://www.slideshare.net/FamilyTreeDNA/roberta-estes-crumley-y-dna

I did the same thing, on an experimental smaller scale about a year ago with my ancestor, Henry Bolton.
http://dna-explained.com/2014/11/10/henry-bolton-c1759-1846-kidnapped-revolutionary-war-veteran-52-ancestors-45/

This is the way of the future in genetic genealogy, and I’ll be writing more about the Crumley project and the reconstruction of James Crumley in 2016.

                         Lump Of Coal Award(s)2015 frown

This category is a “special category” that is exactly what you think it is. Yep, this is the award no one wants.  We have a tie for the Lump of Coal Award this year between Ancestry and 23andMe.

               Ancestry Becomes the J.R. Ewing of the Genealogy World

2015 Larry Hagman

Attribution : © Glenn Francis, http://www.PacificProDigital.com

Some of you may remember J.R. Ewing on the television show called Dallas that ran from 1978 through 1991. J.R. Ewing, a greedy and unethical oil tycoon was one of the main characters.  The series was utterly mesmerizing, and literally everyone tuned in.  We all, and I mean universally, hated J.R. Ewing for what he unfeelingly and selfishly did to his family and others.  Finally, in a cliffhanger end of the season episode, someone shot J.R. Ewing.  OMG!!!  We didn’t know who.  We didn’t know if J.R. lived or died.  Speculation was rampant.  “Who shot JR?” was the theme on t-shirts everyplace that summer.  J.R. Ewing, over time, became the man all of America loved to hate.

Ancestry has become the J.R. Ewing of the genealogy world for the same reasons.

In essence, in the genetic genealogy world, Ancestry introduced a substandard DNA product, which remains substandard years later with no chromosome browser or comparison tools that we need….and they have the unmitigated audacity to try to convince us we really don’t need those tools anyway. Kind of like trying to convince someone with a car that they don’t need tires.

Worse, yet, they’ve introduced “better” tools (New Ancestor Discoveries), as in tools that were going to be better than a chromosome browser.  New Ancestor Discoveries “gives us” ancestors that aren’t ours. Sadly, there are many genealogists being led down the wrong path with no compass available.

Ancestry’s history of corporate stewardship is abysmal and continues with the obsolescence of various products and services including the Sorenson DNA database, their own Y and mtDNA database, MyFamily and most recently, Family Tree Maker. While the Family Tree Maker announcement has been met with great gnashing of teeth and angst among their customers, there are other software programs available.  Ancestry’s choices to obsolete the DNA data bases is irrecoverable and a huge loss to the genetic genealogy community.  That information is lost forever and not available elsewhere – a priceless, irreplaceable international treasure intentionally trashed.

If Ancestry had not bought up nearly all of the competing resources, people would be cancelling their subscriptions in droves to use another company – any other company. But there really is no one else anymore.  Ancestry knows this, so they have become the J.R. Ewing of the genealogy world – uncaring about the effects of their decisions on their customers or the community as a whole.  It’s hard for me to believe they have knowingly created such wholesale animosity within their own customer base.  I think having a job as a customer service rep at Ancestry would be an extremely undesirable job right now.  Many customers are furious and Ancestry has managed to upset pretty much everyone one way or another in 2015.

AncestryDNA Has Now Thoroughly Lost Its Mind
https://digginupgraves.wordpress.com/2015/04/02/ancestrydna-has-now-thoroughly-lost-its-mind/

Kenny, Kenny, Kenny
https://digginupgraves.wordpress.com/2015/04/10/kenny-kenny-kenny/

Dear Kenny – Any Suggestions for our New Ancestor Discoveries?
https://digginupgraves.wordpress.com/2015/04/13/dear-kenny-any-suggestions-for-our-new-ancestor-discoveries/

RIP Sorenson – A Crushing Loss
http://dna-explained.com/2015/05/15/rip-sorenson-a-crushing-loss/

Of Babies and Bathwater
http://www.legalgenealogist.com/blog/2015/05/17/of-babies-and-bathwater/

Facts Matter
http://legalgenealogist.com/blog/2015/05/03/facts-matter/

Getting the Most Out of AncestryDNA
http://dna-explained.com/2015/02/02/getting-the-most-out-of-ancestrydna/

Ancestry Gave Me a New DNA Ancestor and It’s Wrong
http://dna-explained.com/2015/04/03/ancestry-gave-me-a-new-dna-ancestor-and-its-wrong/

Testing Ancestry’s Amazing New Ancestor DNA Claim
http://dna-explained.com/2015/04/07/testing-ancestrys-amazing-new-ancestor-dna-claim/

Dissecting AncestryDNA Circles and New Ancestors
http://dna-explained.com/2015/04/09/dissecting-ancestrydna-circles-and-new-ancestors/

Squaring the Circle
http://legalgenealogist.com/blog/2015/03/29/squaring-the-circle/

Still Waiting for the Holy Grail
http://legalgenealogist.com/blog/2015/04/05/still-waiting-for-the-holy-grail/

A Dozen Ancestors That Aren’t aka Bad NADs
http://dna-explained.com/2015/04/14/a-dozen-ancestors-that-arent-aka-bad-nads/

The Logic and Birth of a Bad NAD (New Ancestor Discovery)
http://dna-explained.com/2015/08/12/the-logic-and-birth-of-a-bad-nad-new-ancestor-discovery/

Circling the Shews
http://legalgenealogist.com/blog/2015/05/24/circling-the-shews/

Naughty Bad NADs Sneak Home Under Cover of Darkness
http://dna-explained.com/2015/08/24/naughty-bad-nads-sneak-home-under-cover-of-darkness/

Ancestry Shared Matches Combined with New Ancestor Discoveries
http://dna-explained.com/2015/08/28/ancestry-shared-matches-combined-with-new-ancestor-discoveries/

Ancestry Shakey Leaf Disappearing Matches: Now You See Them – Now You Don’t
http://dna-explained.com/2015/09/24/ancestry-shakey-leaf-disappearing-matches-now-you-see-them-now-you-dont/

Ancestry’s New Amount of Shared DNA – What Does It Really Mean?
http://dna-explained.com/2015/11/06/ancestrys-new-amount-of-shared-dna-what-does-it-really-mean/

The Winds of Change
http://legalgenealogist.com/blog/2015/11/08/the-winds-of-change/

Confusion – Family Tree Maker, Family Tree DNA and Ancestry.com
http://dna-explained.com/2015/12/13/confusion-family-tree-maker-family-tree-dna-and-ancestry-com/

DNA: good news, bad news
http://legalgenealogist.com/blog/2015/01/11/dna-good-news-bad-news/

Check out the Alternatives
http://legalgenealogist.com/blog/2015/12/09/check-out-the-alternatives/

GeneAwards 2015
http://www.tamurajones.net/GeneAwards2015.xhtml

23andMe Betrays Genealogists

2015 broken heart

In October, 23andMe announced that it has reached an agreement with the FDA about reporting some health information such as carrier status and traits to their clients. As a part of or perhaps as a result of that agreement, 23andMe is dramatically changing the user experience.

In some aspects, the process will be simplified for genealogists with a universal opt-in. However, other functions are being removed and the price has doubled.  New advertising says little or nothing about genealogy and is entirely medically focused.  That combined with the move of the trees offsite to MyHeritage seems to signal that 23andMe has lost any commitment they had to the genetic genealogy community, effectively abandoning the group entirely that pulled their collective bacon out of the fire. This is somehow greatly ironic in light of the fact that it was the genetic genealogy community through their testing recommendations that kept 23andMe in business for the two years, from November of 2013 through October of 2015 when the FDA had the health portion of their testing shut down.  This is a mighty fine thank you.

As a result of the changes at 23andMe relative to genealogy, the genetic genealogy community has largely withdrawn their support and recommendations to test at 23andMe in favor of Ancestry and Family Tree DNA.

Kelly Wheaton, writing on the Facebook ISOGG group along with other places has very succinctly summed up the situation:
https://www.facebook.com/groups/isogg/permalink/10153873250057922/

You can also view Kelly’s related posts from earlier in December and their comments at:
https://www.facebook.com/groups/isogg/permalink/10153830929022922/
and…
https://www.facebook.com/groups/isogg/permalink/10153828722587922/

My account at 23andMe has not yet been converted to the new format, so I cannot personally comment on the format changes yet, but I will write about the experience in 2016 after my account is converted.

Furthermore, I will also be writing a new autosomal vendor testing comparison article after their new platform is released.

I Hate 23andMe
https://digginupgraves.wordpress.com/2015/06/14/i-hate-23andme/

23andMe to Get Makeover After Agreement With FDA
http://dna-explained.com/2015/10/21/23andme-to-get-a-makeover-after-agreement-with-fda/

23andMe Metamorphosis
http://throughthetreesblog.tumblr.com/post/131724191762/the-23andme-metamorphosis

The Changes at 23andMe
http://legalgenealogist.com/blog/2015/10/25/the-changes-at-23andme/

The 23and Me Transition – The First Step
http://dna-explained.com/2015/11/05/the-23andme-transition-first-step-november-11th/

The Winds of Change
http://legalgenealogist.com/blog/2015/11/08/the-winds-of-change/

Why Autosomal Response Rate Really Does Matter
http://dna-explained.com/2015/02/24/why-autosomal-response-rate-really-does-matter/

Heads Up About the 23andMe Meltdown
http://dna-explained.com/2015/12/04/heads-up-about-the-23andme-meltdown/

Now…and not now
http://legalgenealogist.com/blog/2015/12/06/now-and-not-now/

                             Cone of Shame Award 2015 frown

Another award this year is the Cone of Shame award which is also awarded to both Ancestry and 23andMe for their methodology of obtaining “consent” to sell their customers’, meaning our, DNA and associated information.

Genetic Genealogy Data Gets Sold

2015 shame

Unfortunately, 2015 has been the year that the goals of both 23andMe and Ancestry have become clear in terms of our DNA data. While 23andMe has always been at least somewhat focused on health, Ancestry never was previously, but has now hired a health officer and teamed with Calico for medical genetics research.

Now, both Ancestry and 23andMe have made research arrangements and state in their release and privacy verbiage that all customers must electronically sign (or click through) when purchasing their DNA tests that they can sell, at minimum, your anonymized DNA data, without any further consent.  And there is no opt-out at that level.

They can also use our DNA and data internally, meaning that 23andMe’s dream of creating and patenting new drugs can come true based on your DNA that you submitted for genealogical purposes, even if they never sell it to anyone else.

In an interview in November, 23andMe CEO Anne Wojcicki said the following:

23andMe is now looking at expanding beyond the development of DNA testing and exploring the possibility of developing its own medications. In July, the company raised $79 million to partly fund that effort. Additionally, the funding will likely help the company continue with the development of its new therapeutics division. In March, 23andMe began to delve into the therapeutics market, to create a third pillar behind the company’s personal genetics tests and sales of genetic data to pharmaceutical companies.

Given that the future of genetic genealogy at these two companies seems to be tied to the sale of their customer’s genetic and other information, which, based on the above, is very clearly worth big bucks, I feel that the fact that these companies are selling and utilizing their customer’s information in this manner should be fully disclosed. Even more appropriate, the DNA information should not be sold or utilized for research without an informed consent that would traditionally be used for research subjects.

Within the past few days, I wrote an article, providing specifics and calling on both companies to do the following.

  1. To minimally create transparent, understandable verbiage that informs their customers before the end of the purchase process that their DNA will be sold or utilized for unspecified research with the intention of financial gain and that there is no opt-out. However, a preferred plan of action would be a combination of 2 and 3, below.
  2. Implement a plan where customer DNA can never be utilized for anything other than to deliver the services to the consumers that they purchased unless a separate, fully informed consent authorization is signed for each research project, without coercion, meaning that the client does not have to sign the consent to obtain any of the DNA testing or services.
  3. To immediately stop utilizing the DNA information and results from customers who have already tested until they have signed an appropriate informed consent form for each research project in which their DNA or other information will be utilized.

And Now Ancestry Health
http://dna-explained.com/2015/06/06/and-now-ancestry-health/

Opting Out
http://legalgenealogist.com/blog/2015/07/26/opting-out/

Ancestry Terms of Use Updated
http://legalgenealogist.com/blog/2015/07/07/ancestry-terms-of-use-updated/

AncestryDNA Doings
http://legalgenealogist.com/blog/2015/07/05/ancestrydna-doings/

Heads Up About the 23andMe Meltdown
http://dna-explained.com/2015/12/04/heads-up-about-the-23andme-meltdown/

23andMe and Ancestry and Selling Your DNA Information
http://dna-explained.com/2015/12/30/23andme-ancestry-and-selling-your-dna-information/

                      Citizen Science Leadership Award   2015 smile

The Citizen Science Leadership Award this year goes to Blaine Bettinger for initiating the Shared cM Project, a crowdsourced project which benefits everyone.

Citizen Scientists Continue to Push the Edges of the Envelope with the Shared cM Project

Citizen scientists, in the words of Dr. Doron Behar, “are not amateurs.” In fact, citizen scientists have been contributing mightily and pushing the edge of the genetic genealogy frontier consistently now for 15 years.  This trend continues, with new discoveries and new ways of viewing and utilizing information we already have.

For example, Blaine Bettinger’s Shared cM Project was begun in March and continues today. This important project has provided real life information as to the real matching amounts and ranges between people of different relationships, such as first cousins, for example, as compared to theoretical match amounts.  This wonderful project produced results such as this:

2015 shared cM

I don’t think Blaine initially expected this project to continue, but it has and you can read about it, see the rest of the results, and contribute your own data here. Blaine has written several other articles on this topic as well, available at the same link.

Am I Weird or What?
http://dna-explained.com/2015/03/07/am-i-weird-or-what/

Jim Owston analyzed fourth cousins and other near distant relationships in his Owston one-name study:
https://owston.wordpress.com/2015/08/10/an-analysis-of-fourth-cousins-and-other-near-distant-relatives/

I provided distant cousin information in the Crumley surname study:
http://www.slideshare.net/FamilyTreeDNA/roberta-estes-crumley-y-dna

I hope more genetic genealogists will compile and contribute this type of real world data as we move forward. If you have compiled something like this, the Surname DNA Journal is peer reviewed and always looking for quality articles for publication.

Privacy, Law Enforcement and DNA

2015 privacy

Unfortunately, in May, a situation by which Y DNA was utilized in a murder investigation was reported in a sensationalist “scare” type fashion.  This action provided cause, ammunition or an excuse for Ancestry to remove the Sorenson data base from public view.

I find this exceedingly, exceedingly unfortunate. Given Ancestry’s history with obsoleting older data bases instead of updating them, I’m suspecting this was an opportune moment for Ancestry to be able to withdraw this database, removing a support or upgrade problem from their plate and blame the problem on either law enforcement or the associated reporting.

I haven’t said much about this situation, in part because I’m not a lawyer and in part because the topic is so controversial and there is no possible benefit since the damage has already been done. Unfortunately, nothing anyone can say or has said will bring back the Sorenson (or Ancestry) data bases and arguments would be for naught.  We already beat this dead horse a year ago when Ancestry obsoleted their own data base.  On this topic, be sure to read Judy Russell’s articles and her sources as well for the “rest of the story.”

Privacy, the Police and DNA
http://legalgenealogist.com/blog/2015/02/08/privacy-the-police-and-dna/

Big Easy DNA Not So Easy
http://legalgenealogist.com/blog/2015/03/15/big-easy-dna-not-so-easy/

Of Babies and Bathwater
http://www.legalgenealogist.com/blog/2015/05/17/of-babies-and-bathwater/

Facts Matter
http://legalgenealogist.com/blog/2015/05/03/facts-matter/

Genetic genealogy standards from within the community were already in the works prior to the Idaho case, referenced above, and were subsequently published as guidelines.

Announcing Genetic Genealogy Standards
http://thegeneticgenealogist.com/2015/01/10/announcing-genetic-genealogy-standards/

The standards themselves:
http://www.thegeneticgenealogist.com/wp-content/uploads/2015/01/Genetic-Genealogy-Standards.pdf

Ancient DNA Results Continue to Amass

“Moorleiche3-Schloss-Gottorf” by Commander-pirx at de.wikipedia – Own work. Licensed under CC BY-SA 3.0 via Commons

Ancient DNA is difficult to recover and even more difficult to sequence, reassembling tiny little blocks of broken apart DNA into an ancient human genome.

However, each year we see a few more samples and we are beginning to repaint the picture of human population movement, which is different than we thought it would be.

One of the best summaries of the ancient ancestry field was Michael Hammer’s presentation at the Family Tree DNA Conference in November titled “R1B and the Peopling of Europe: an Ancient DNA Update.” His slides are available here:
http://www.slideshare.net/FamilyTreeDNA/r1b-and-the-people-of-europe-an-ancient-dna-update

One of the best ongoing sources for this information is Dienekes’ Anthropology Blog. He covered most of the new articles and there have been several.  That’s the good news and the bad news, all rolled into one. http://dienekes.blogspot.com/

I have covered several that were of particular interest to the evolution of Europeans and Native Americans.

Yamnaya, Light Skinned Brown Eyed….Ancestors?
http://dna-explained.com/2015/06/15/yamnaya-light-skinned-brown-eyed-ancestors/

Kennewick Man is Native American
http://dna-explained.com/2015/06/18/kennewick-man-is-native-american/

Botocudo – Ancient Remains from Brazil
http://dna-explained.com/2015/07/02/botocudo-ancient-remains-from-brazil/

Some Native had Oceanic Ancestors
http://dna-explained.com/2015/07/22/some-native-americans-had-oceanic-ancestors/

Homo Naledi – A New Species Discovered
http://dna-explained.com/2015/09/11/homo-naledi-a-new-species-discovered/

Massive Pre-Contact Grave in California Yields Disappointing Results
http://dna-explained.com/2015/10/20/mass-pre-contact-native-grave-in-california-yields-disappointing-results/

I know of several projects involving ancient DNA that are in process now, so 2016 promises to be a wonderful ancient DNA year!

Education

2015 education

Many, many new people discover genetic genealogy every day and education continues to be an ongoing and increasing need. It’s a wonderful sign that all major conferences now include genetic genealogy, many with a specific track.

The European conferences have done a great deal to bring genetic genealogy testing to Europeans. European testing benefits those of us whose ancestors were European before immigrating to North America.  This year, ISOGG volunteers staffed booths and gave presentations at genealogy conferences in Birmingham, England, Dublin, Ireland and in Nyköping, Sweden, shown below, photo compliments of Catherine Borges.

ISOGG volunteers

Several great new online educational opportunities arose this year, outside of conferences, for which I’m very grateful.

DNA Lectures YouTube Channel
http://dna-explained.com/2015/04/26/dna-lectures-youtube-channel/

Allen County Public Library Online Resources
http://dna-explained.com/2015/06/03/allen-county-public-library-online-resources/

DNA Data Organization Tools and Who’s on First
http://dna-explained.com/2015/09/08/dna-data-organization-tools-and-whos-on-first/

Genetic Genealogy Educational Resource List
http://dna-explained.com/2015/12/03/genetic-genealogy-educational-resource-list/

Genetic Genealogy Ireland Videos
https://www.youtube.com/channel/UCHnW2NAfPIA2KUipZ_PlUlw

DNA Lectures – Who Do You Think You Are
https://www.youtube.com/channel/UC7HQSiSkiy7ujlkgQER1FYw

Ongoing and Online Classes in how to utilize both Y and autosomal DNA
http://www.dnaadoption.com/index.php?page=online-classes

Education Award

2015 smile Family Tree DNA receives the Education Award this year along with a huge vote of gratitude for their 11 years of genetic genealogy conferences. They are the only testing or genealogy company to hold a conference of this type and they do a fantastic job.  Furthermore, they sponsor additional educational events by providing the “theater” for DNA presentations at international events such as the Who Do You Think You Are conference in England.  Thank you Family Tree DNA.

Family Tree DNA Conference

ftdna 2015

The Family Tree DNA Conference, held in November, was a hit once again. I’m not a typical genealogy conference person.  My focus is on genetic genealogy, so I want to attend a conference where I can learn something new, something leading edge about the science of genetic genealogy – and that conference is definitely the Family Tree DNA conference.

Furthermore, Family Tree DNA offers tours of their lab on the Monday following the conference for attendees, and actively solicits input on their products and features from conference attendees and project administrators.

2015 FTDNA lab

Family Tree DNA 11th International Conference – The Best Yet
http://dna-explained.com/2015/11/18/2015-family-tree-dna-11th-international-conference-the-best-yet/

All of the conference presentations that were provided by the presenters have been made available by Family Tree DNA at:
http://www.slideshare.net/FamilyTreeDNA?utm_campaign=website&utm_source=sendgrid.com&utm_medium=email

2016 Genetic Genealogy Wish List

2015 wish list

In 2014, I presented a wish list for 2015 and it didn’t do very well.  Will my 2015 list for 2016 fare any better?

  • Ancestry restores Sorenson and their own Y and mtDNA data bases in some format or contributes to an independent organization like ISOGG.
  • Ancestry provides chromosome browser.
  • Ancestry removes or revamps Timber in order to restore legitimate matches removed by Timber algorithm.
  • Fully informed consent (per research project) implemented by 23andMe and Ancestry, and any other vendor who might aspire to sell consumer DNA or related information, without coercion, and not as a prerequisite for purchasing a DNA testing product. DNA and information will not be shared or utilized internally or externally without informed consent and current DNA information will cease being used in this fashion until informed consent is granted by customers who have already tested.
  • Improved ethnicity reporting at all vendors including ancient samples and additional reference samples for Native Americans.
  • Autosomal Triangulation tools at all vendors.
  • Big Y and STR integration and analysis enhancement at Family Tree DNA.
  • Ancestor Reconstruction
  • Mitochondrial and Y DNA search tools by ancestor and ancestral line at Family Tree DNA.
  • Improved tree at Family Tree DNA – along with new search capabilities.
  • 23andMe restores lost capabilities, drops price, makes changes and adds features previously submitted as suggestions by community ambassadors.
  • More tools (This is equivalent to “bring me some surprises” on my Santa list as a kid.)

My own goals haven’t changed much over the years. I still just want to be able to confirm my genealogy, to learn as much as I can about each ancestor, and to break down brick walls and fill in gaps.

I’m very hopeful each year as more tools and methodologies emerge.  More people test, each one providing a unique opportunity to match and to understand our past, individually and collectively.  Every year genetic genealogy gets better!  I can’t wait to see what 2016 has in store.

Here’s wishing you a very Happy and Ancestrally Prosperous New Year!

2015 happy new year

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Hide and Seek at 23andMe, DNA Relatives Consent, Opt-In, Opt-Out and Close Relatives

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To say that the matching policies at 23andMe are confusing is an understatement. Of course, that would imply that we could figure out what those policies are, this week, exactly.  What I have been able to discern is that there is widespread confusion about the entire topic.  This is my attempt to figure out which end is up, and who can see whom, under what circumstances.  I feel like this is a high-tech game of Hide and Seek, a game customers should not have to be playing.

hide and seek

On October 17, 2014, I received this e-mail for one of the 23andMe accounts that I manage. I did not receive it for any of the other accounts that I manage at 23andMe.

When I clicked on the “can’t miss it” red block in the e-mail, it did absolutely nothing. However, by clicking on the “view as a web page” link, clicking on the “Confirm your DNA Relatives participation” took me to the 23andMe signon screen.

I signed in, but was not taken to the account in question. When I switched to that account, this is what I saw – in essence, a second warning.

hide and seek2

I was not allowed to proceed further until I clicked on yes or no.

Of course, this begs the question of why my other accounts weren’t asked the same question. With the exception of one, they are sharing in DNA Relatives too.

It also made me wonder about the sharing with Close Relatives option.

I decided to check the DNA Relatives Option information in the Privacy/Consent settings, but there was nothing further.  You can visit your consent options by clicking on the down arrow by your name, shown on the upper right hand corner of the screen shot below, and selecting “account settings.”

hide and seek3

So, what the heck happened to the close relatives option?

It seems that 23andMe discontinued the “close relatives” opt-in or opt-out, according to their June blog article, below.

hide and seek4hide and seek5

At this point, if you had not ‘opted out’ then it was assumed that you had in effect ‘opted in’ and all of your matches including your close relatives would be shown.

But then the VOX article was published in September and the proverbial stuff hit the fan.

The day of the expected default opt-in change, based on the June announcement (above), 23and Me posted a retraction of the June article, on their community forum, below.

Dear Community,

We made a change from what we promised and I want to apologize. We promised that the roughly 350,000 customers that had not consented to see Close Relatives in our DNA Relatives feature would be automatically opted in at the end of a 30 day notification period. I understand that that was extremely exciting for many of you to have so much data potentially come your way. It was unfortunately a mistake that we promised that.

I do not think it was ever the right call to promise that we would automatically opt-in those customers. Core to our philosophy is customer choice and empowerment through data. The Close Relatives features can potentially give a customer life changing information, like the existence of an unknown sibling or the knowledge that a relative is not biologically related to them. Customers need to make their own deliberate and informed decision if they want this information. It is 23andMe’s responsibility to make sure our customers have a choice and that they understand the potential implications.

The timing of the change is unfortunate and I apologize the announcement came late on a Friday night at the end of the 30 day period. The article in Vox made me and others look into the language in the consent form and that is when I learned about the proposed changes coming to the DNA Relatives community. As 23andMe has moved from being a start up to a bigger and more mature company, I am not involved in every decision. This is a decision that should have come to my attention but it did not. We will learn from that. 23andMe is hiring a Chief Privacy Officer and that too will help us avoid these types of mistakes in the future. We are also already planning to evolve the consent process to make it simpler and more clear for customers.

Going forward, we will continue to prompt the customers that have not made a choice about Close Relatives to make a choice. We understand how important that is to you. We will do a mix of emails to these customers and pop-up prompts at login to get customers to make a choice.

I apologize again for the disappointment and for not having clearly communicated the reason for reversing course. 23andMe continues to grow and pioneer the way we think about consumers exploring their DNA. While we continue to innovate we may also err along the way. We can only promise that we will always listen to and do right by you, our customer, and will never fear having to redirect our course when it is the right thing to do.

Sincerely, Anne Wojcicki

So, now it appears that unless someone has specifically ‘opted in’ to DNA Relatives as a whole, they are automatically ‘opted out,’ a 180 degree reversal.  Of course, if you were one of those 350,000 customers who received a notification about opting out, and did nothing, so that you could be opted in at the end of the 30 days referenced above, you would be thoroughly confused because you THINK you’re now opted in.

23andMe has a habit of posting information on their Forum which members must actively check, instead of sending e-mails to their customers or posting this kind of information on their blog that is sent by subscription. One of the forum followers was kind enough to point out this recent posting detailing changes that have occurred in October and the 23andMe policy moving forward.

hide and seek6hide and seek7It’s signed, Chistine on behalf of the 23andMe Product Team

I can find nothing on the current customer pages providing any information about these decisions or the match status of DNA Relatives/Close Relatives.

Furthermore, 23andMe is now asking some, but not everyone, who are opted in for DNA Relatives if they are sure. My account that was asked tested in 2010, so was not caught in the 2014 selection option confusion.

I feel that this methodology discourages many people from participation. It infers that there is something frightening that you ‘ought to be’ concerned about – especially if you are asked about the same topic several times.

In summary, here is, I think, what we know, as of October 16, 2014.

  • Everyone will have to make a specific choice to opt-in to DNA Relatives, one way or another, after testing.  If you don’t specifically opt-in, you are opted out.  Consent to test apparently doesn’t count as consent for DNA Relatives.
  • Clients prior to June 5, 2014 who were opted in to DNA Relatives but out of Close Relatives will be prompted to select an opt-in with close relatives included, or an opt-out entirely.
  • Clients prior to June 5, 2014, who did opt-in to participate in DNA Relatives, but did not have any selection to make about “Close Relatives” will be required to confirm that they want to continue in DNA Relatives before they can proceed to see their matches. This is apparently the e-mail that I received for one of my kits. It’s still a mystery why I never received it for the others who tested even earlier and clearly before the “Close Relatives” option existed.
  • Clients between June 5, 2014 and October 16, 2014 who were automatically opted in to DNA Relatives with close relatives included will also be prompted to confirm their participation in DNA Relatives and until they do confirm that option, they will not be visible nor able to view close relatives.
  • New customers will be prompted to opt-in or opt-out of DNA Relatives and opt-in will no longer be the default.
  • Participation in DNA Relatives will now include close relatives and that will not be a separate option.

I’m very glad to see that everyone who opts in to DNA Relatives includes close relatives. To do it any other way is not only confusing, it’s more than a little disingenuous, especially given that someone may not realize why their close matches aren’t showing.  I had more than one client have a panic attack when their family member wasn’t showing as a match, especially when they were expecting to see a parent or sibling.  In my opinion, having to enable the “close relatives” option caused huge problems and wholly unwarranted stress.  If it’s truly gone, never to return, I’m very glad and applaud 23andMe for that decision.

The bad news is that many of the 350,000 people referred to in the September community forum posting are still anonymous, and they many not even realize it. Many probably presumed, quite logically, that because they were taking a DNA test that included matches, that they would receive matches without having to do anything further.  Furthermore, they received the 30 day notification that they would be opted in if they did nothing, so they expected to be opted in.  But they aren’t.

Currently, at 23andMe, you have to jump through more hoops to obtain your genealogy results than you did (when they were providing health information) to obtain your health results.  I hope that the message provided to people who are making the “Opt In – Opt Out” decision can be worded a little more encouragingly and present both sides of the risk/reward coin.  I would hate for their entire response to be fear based due to the tone of the selection message and the fact that they have to answer this question repeatedly – like the dreaded Alzheimer’s health question – back when 23andMe was providing health results.

Here, let me give you an example vignette:

Hi, 23andMe, I’d like to test for genealogy matches.

Great, send me $99 and you’re on the way.

Spit…mail….waiting…waiting…

Good news, your results are back.  Do you want to opt into DNA Relatives?  You know you could find out information about your family that is upsetting to you?  It could change your family relations?

Really?  Hmmm…I think I want to see.  That’s why I tested.

Another e-mail:  Are you sure, really positive that you want to remain in DNA Relatives?  You know, you could find out really upsetting information.  You can see other close relatives and they can see you.

Geeze, I don’t know….maybe not…I’ll wait till I sign on next time to deal with this.

Signing on next time….

Do you want to opt-in to DNA Relatives?  You know, you could find out some really disturbing and upsetting things about your family?  It could change your relationship with your family members.

After repeating this warning several times, it begins to appear like 23andMe is discouraging your participation, not informing you of risks and rewards.  There is no upside mentioned, only repeated negatively framed warnings.  Given that genealogy/ancestry is the only reason for the consumer to purchase this product right now, this approach seems a bit counter-intuitive and overkill.  In the least, the warning should be given up front, during the purchase process, and then not constantly repeated.

However, given that 23andMe is still gathering your health information and utilizing it in their medical research, even if you opt-out or don’t opt-in to DNA Relatives, assuming you haven’t opted out of medical research as well, warning you up front would discourage a sale and would prevent them from collecting your genetic data.  In essence, 23andMe doesn’t care one bit whether you opt-in or opt-out of DNA Relatives, but they care a whole lot about your money and your participation in medical research.

The constant changes and hoopla are confusing people and frightening some. Others are becoming too discouraged by a lack of positive genealogical results to continue.

23andMe was first in the game with consumer autosomal testing, but their ever-changing policies have become and remain confusing. They have done nothing to clarify publicly, leaving everyone uncertain and a little reluctant.

23andMe entered the genealogy marketspace, but they seem to be focused on protecting people from genealogy matches. This seems almost like a conflict of interest, or may be better stated, a Kobayashi Maru, or no-win situation. It seems that the health testing aspect is causing 23andMe to adopt such restrictive procedures that it’s making the genealogy aspect of their product increasingly restrictive and difficult.  I’m sure this is reflective of their primary goal, which is medicine, and the fact that genealogists just happened to be interested in genetics as a tool was, for them, a happy accident that provided a source for test subjects.  Genealogy is not something 23andMe is primarily interested in.  I’m sure they aren’t making things difficult intentionally, but the net effect is far from encouraging.

I’m finding that their protections are barriers and the required steps are confusing for customers and self-defeating for genealogy, and they are, unfortunately, cumulative hurdles:

  • Having to specifically opt-in to DNA Relatives, even after consenting to test when purchasing the product which includes matching
  • Having to request to communicate with other participants
  • Having to request to “share DNA”
  • Having to confirm that yes, you really did want to ‘opt in’ to DNA Relatives
  • About a 10% communication request response rate
  • Most of the 10% of the people who do respond know little, if anything, about their genealogy, nor are they terribly interested
  • Having to utilize the 23andMe corporate message system instead of communicate with your matches via e-mail
  • Match limit at 1000 people unless you are communicating with more than that number. After 1000, matches fall off your list.
  • Their terrible trees. Yes, I realize they have recently partnered with My Heritage, but as Judy Russell says, we’ll see.
  • The misleading (health and ancestry) notation in a sharing request which frightens people as to why you want their health information, causing people to decline to share
  • Constant change about who you are/aren’t seeing as matches and why
  • Confusing and conflicting opt-in, opt-out information delivered on four different platforms; e-mail, on your personal page, their blog and their community forum.  In essence, this means that almost everyone except the most dedicated 23andMe follower misses at least part of the information.

23andMe is approaching the point where the pain level of participation is at the threshold of no longer being worthwhile except for extraordinary cases like adoptions where the participant is desperate for any possible crumb.

I thought more about this situation, and I believe that the underlying problem is a fundamental disconnect in the focus of the two groups.  23andMe’s corporate focus is and always has been health related research, compilation and manipulation of genomic “big data.”   Taking a look at their recent American Association of Human Genetics papers is a good yardstick of their corporate focus.  Not one paper mentions the genealogical aspect of their business, and even the paper that does indirectly help genealogists by reducing false positive identical-by-descent segments is presented from a medical perspective.  In essence, the genealogy community is a source for DNA for 23andMe.  They aren’t focused on genealogy or interested in serving this community.  That’s neither good nor bad…it’s just the way it is.

The genealogy community, on the other hand, is frustrated by the increasingly long list of confusing hurdles at 23andMe that people who test for genealogy must navigate before they can reap any of the potential benefits of matching for genealogical purposes.  Each successive hurdle reduces the number of people who complete the course and those who make it to the end are either the died in the wool genealogists who have tested elsewhere anyway or people with little or no knowledge of their genealogy.  Worst case, people who test at 23andMe for genealogy will leave with a bad taste in their mouth and never test again because, frankly, it’s neither easy nor fun.

We don’t know exactly how many people haven’t opted-in for DNA Relatives, but we can surmise some based on their publicly released information.  In the September retraction, 23andMe said that there were 350,000 who had not opted in, or out.  We don’t know how many have actively opted out.  In their ASHG abstract, they mention that 550,000 have consented for research.  That tells us that less than half of their clients are opted in for DNA Relatives, or about 200,000 (assuming no one opted out), or perhaps less now with the recent “are you sure” messages like I received.  Given that only 10% of the people who DO actively opt-in for DNA Relatives respond to inquiries, that’s a whole lot of people not clearing the hurdles for one reason or another.  Of their entire data base of 550,000, only about 20,000 people clear the hurdles and engage, or about 3.5%. That means that there are 530,000, or more if you include the unknown number of opt-outs, who don’t clear the hurdles.

I hope 23andMe gets their cumulative act together relative to genealogy customers. You’d think with genealogy customers being their only source of corporate revenue right now (except for government grants and venture capital), that they would be bending over backwards to make the genealogy related products and processes straightforward, accessible and easy to use.  Now would be a great time for some positive changes!

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I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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2013 Family Tree DNA Conference Day 2

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14

ISOGG Meeting

The International Society of Genetic Genealogy always meets at 8 AM on Sunday morning.  I personally think that 8AM meeting should be illegal, but then I generally work till 2 or 3 AM (it’s 1:51 AM now), so 8 is the middle of my night.

Katherine Borges, the Director speaks about current and future activities, and Alice Fairhurst spoke about the many updates to the Y tree that have happened and those coming as well.  It has been a huge challenge to her group to keep things even remotely current and they deserve a huge round of virtual applause from all of us for the Y tree and their efforts.

Bennett opened the second day after the ISOGG meeting.

“The fact that you are here is a testament to citizen science” and that we are pushing or sometimes pulling academia along to where we are.

Bennett told the story of the beginning of Family Tree DNA.  “Fourteen years ago when the hair that I have wasn’t grey,” he began, “I was unemployed and tried to reorganize my wife’s kitchen and she sent me away to do genealogy.”  Smart woman, and thankfully for us, he went.  But he had a roadblock.  He felt there was a possibility that he could use the Y chromosome to solve the roadblock.  Bennett called the author of one of the two papers published at that time, Michael Hammer.  He called Michael Hammer on Sunday morning at his home, but Michael was running out the door to the airport.  He declined Bennett’s request, told him that’s not what universities do, and that he didn’t know of anyplace a Y test could be commercially be done.  Bennett, having run out of persuasive arguments, started mumbling about “us little people providing money for universities.”  Michael said to him, “Someone should start a company to do that because I get phone calls from crazy genealogists like you all the time.”  Let’s just say Bennett was no longer unemployed and the rest, as they say, is history.  With that, Bennett introduced one of our favorite speakers, Dr. Michael Hammer from the Hammer Lab at the University of Arizona.

Bennett day 2 intro

Session 1 – Michael Hammer – Origins of R-M269 Diversity in Europe

Michael has been at all of the conferences.  He says he doesn’t think we’re crazy.  I personally think we’ve confirmed it for him, several times over, so he KNOWS we’re crazy.  But it obviously has rubbed off on him, because today, he had a real shocker for us.

I want to preface this by saying that I was frantically taking notes and photos, and I may have missed something.  He will have his slides posted and they will be available through a link on the GAP page at FTDNA by the end of the week, according to Elliott.

Michael started by saying that he is really exciting opportunity to begin breaking family groups up with SNPs which are coming faster than we can type them.

Michael rolled out the Y tree for R and the new tree looks like a vellum scroll.

Hammer scroll

Today, he is going to focus on the basic branches of the Y tree because the history of R is held there.

The first anatomically modern humans migrated from Africa about 45,000 years ago.

After last glacial maximum 17,000 years ago, there was a significant expansion into Europe.

Neolithic farmers arrived from the near east beginning 10,000 years ago.

Farmers had an advantage over hunter gatherers in terms of population density.  People moved into Northwestern Europe about 5,000 years ago.

What did the various expansions contribute to the population today?

Previous studies indicate that haplogroup R has a Paleolithic origin, but 2 recent studies agree that this haplogroup has a more recent origin in Europe – the Neolithic but disagree about the timing of the expansion.

The first study, Joblin’s study in 2010, argued that geographic diversity is explained by single Near East source via Anaotolia.

It conclude that the Y of Mesololithic hunger-gatherers were nearly replaced by those of incoming farmers.

In the most recent study by Busby in 2012 is the largest study and concludes that there is no diversity in the mapping of R SNP markers so they could not date lineage and expansion.  They did find that most basic structure of R tree did come from the near east.  They looked at P311 as marker for expansion into Europe, wherever it was.  Here is a summary page of Neolithic Europe that includes these studies.

Hammer says that in his opinion, he thought that if P311 is so frequent and widespread in Europe it must have been there a long time.  However, it appears that he and most everyone else, was wrong.

The hypothesis to be tested is if P311 originated prior to the Neolithic wave, it would predict higher diversity it the near east, closer to the origins of agriculture.  If P311 originated after the expansion, would be able to see it migrate across Europe and it would have had to replace an existing population.

Because we now have sequences the DNA of about 40 ancient DNA specimens, Michael turned to the ancient DNA literature.  There were 4 primary locations with skeletal remains.  There were caves in France, Spain, Germany and then there’s Otzi, found in the Alps.

hammer ancient y

All of these remains are between 6000-7000 years old, so prior to the agricultural expansion into Europe.

In France, the study of 22 remains produced, 20 that were G2a and 2 that were I2a.

In Spain, 5 G2a and 1 E1b.

In Germany, 1I G2a and 2 F*.

Otzi is haplogroup G2a2b.

There was absolutely 0, no, haplogroup R of any flavor.

In modern samples, of 172 samples, 94 are R1b.

To evaluate this, he is dropping back to the backbone of haplogroup R.

hammer backbone

This evidence supports a recent spread of haplogroup R lineages in western Europe about 5K years ago.  This also supports evidence that P311 moved into Europe after the Neolithic agricultural transition and nearly displaced the previously existing western European Neolithic Y, which appears to be G2a.

This same pattern does not extrapolate to mitochondrial DNA where there is continuity.

What conferred advantage to these post Neolithic men?  What was that advantage?

Dr. Hammer then grouped the major subgroups of haplogroup R-P3111 and found the following clusters.

  • U106 is clustered in Germany
  • L21 clustered in the British Isles
  • U152 has an Alps epicenter

hammer post neolithic epicenters

This suggests multiple centers of re-expansion for subgroups of haplogroup R, a stepwise process leading to different pockets of subhaplogroup density.

Archaeological studies produce patterns similar to the hap epicenters.

What kind of model is going on for this expansion?

Ancestral origin of haplogroup R is in the near east, with U106, P312 and L21 which are then found in 3 European locations.

This research also suggests thatG2a is the Neolithic version of R1b – it was the most commonly found haplogroup before the R invasion.

To make things even more interesting, the base tree that includes R has also been shifted, dramatically.

Haplogroup K has been significantly revised and is the parent of haplogroups P, R and Q.

It has been broken into 4 major branches from several individual lineages – widely shifted clades.

hammer hap k

Haps R and Q are the only groups that are not restricted to Oceana and Southeast Asia.

Rapid splitting of lineages in Southeast Asia to P, R and Q, the last two of which then appear in western Europe.

hammer r and q in europe

R then, populated Europe in the last 4000 years.

How did these Asians get to Europe and why?

Asian R1b overtook Neolithic G2a about 4000 years ago in Europe which means that R1b, after migrating from Africa, went to Asia as haplogroup K and then divided into P, Q and R before R and Q returned westward and entered Europe.  If you are shaking your head right about now and saying “huh?”…so were we.

Hammer hap r dist

Here is Dr. Hammer’s revised map of haplogroup dispersion.

hammer haplogroup dispersion map

Moving away from the base tree and looking at more recent SNPs, Dr. Hammer started talking about some of the findings from the advanced SNP testing done through the Nat Geo project and some of what it looks like and what it is telling us.

For example, the R1bs of the British Isles.

There are many clades under L 21.  For example, there is something going on in Scotland with one particular SNP (CTS11722?) as it comprises one third of the population in Scotland, but very rare in Ireland, England and Wales.

New Geno 2.0 SNP data is being utilized to learn more about these downstream SNPs and what they had to say about the populations in certain geographies.

For example, there are 32 new SNPs under M222 which will help at a genealogical level.

These SNPs must have arisen in the past couple thousand years.

Michael wants to work with people who have significant numbers of individuals who can’t be broken out with STRs any further and would like to test the group to break down further with SNPs.  The Big Y is one option but so is Nat Geo and traditional SNP testing, depending on the circumstance.

G2a is currently 4-5% of the population in Europe today and R is more than 40%.

Therefore, P312 split in western Eurasia and very rapidly came to dominate Europe

Session 2 – Dr. Marja Pirttivaara – Bridging Social Media and DNA

Dr. Pirttivaara has her PhD in Physics and is passionate about genetic genealogy, history and maps.  She is an administrator for DNA projects related to Finland and haplogroup N1c1, found in Finland, of course.

marja

Finland has the population of Minnesota and is the size of New Mexico.

There are 3750 Finland project members and of them 614 are haplogroup N1c1.

Combining the N1c1 and the Uralic map, we find a correlation between the distribution of the two.

Turku, the old capital, was full or foreigners, in Medieval times which is today reflected in the far reaching DNA matches to Finnish people.

Some of the interest in Finland’s DNA comes from migration which occurred to the United States.

Facebook and other social media has changed the rules of communication and allows the people from wide geographies to collaborate.  The administrator’s role has also changed on social media as opposed to just a FTDNA project admin.  Now, the administrator becomes a negotiator and a moderator as well as the DNA “expert.”

Marja has done an excellent job of motivating her project members.  They are very active within the project but also on Facebook, comparing notes, posting historical information and more.

Session 3 – Jason Wang – Engineering Roadmap and IT Update

Jason is the Chief Technology Officer at Family Tree DNA and recently joined with the Arpeggi merger and has a MS in Computer Engineering.

Regarding the Gene by Gene/FTDNA partnership, “The sum of the parts is greater than the whole.”  He notes that they have added people since last year in addition to the Arpeggi acquisition.

Jason introduced Elliott Greenspan, who, to most of us, needed no introduction at all.

Elliott began manually scoring mitochondrial DNA tests at age 15.  He joined FTDNA in 2006 officially.

Year in review and What’s Coming

4 times the data processed in the past year.

Uploads run 10 times faster.  With 23andMe and Ancestry autosomal uploads, processing will start in about 5 minutes, and matches will start then.

FTDNA reinvented Family Finder with the goal of making the user experience easier and more modern.   They added photos, profiles and the new comparison bars along with an advanced section and added push to chromosome browser.

Focus on users uploading the family tree.  Tools don’t matter if the data isn’t there.  In order to utilize the genealogy aspect, the genealogy info needs to be there.   Will be enhancing the GEDCOM viewer.  New GEDCOMs replace old GEDCOMs so as you update yours, upload it again.

They are now adding a SNP request form so that you can request a SNP not currently available.  This is not to be confused with ordering an existing SNP.

They currently utilize build 14 for mitochondrial DNA.  They are skipping build 15 entirely and moving forward with 16.

They added steps to the full sequence matches so that you can see your step-wise mutations and decide whether and if you are related in a genealogical timeframe.

New Y tree will be released shortly as a result of the Geno 2.0 testing.  Some of the SNPs have mutated as much as 7 times, and what does that mean in terms of the tree and in terms of genealogical usefulness.  This tree has taken much longer to produce than they expected due to these types of issues which had to be revised individually.

New 2014 tree has 6200 SNPS and 1000 branches.

  • Commitment to take genetic genealogy to the next level
  • Y draft tree
  • Constant updates to official tree
  • Commitment to accurate science

If a single sample comes back as positive for a SNP, they will put it on the tree and will constantly update this.

If 3 or 4 people have the same SNP that are not related it will go directly to the tree.  This is the reason for the new SNP request form.

Part of the reason that the tree has taken so long is that not every SNP is public and it has been a huge problem.

When they find a new SNP, where does it go on the tree?  When one SNP is found or a SNP fails, they have run over 6000 individual SNPs on Nat Geo samples to vet to verify the accuracy of the placement.  For example, if a new SNP is found in a particular location, or one is found not to be equivalent that was believe to be so previously, they will then test other samples to see where the SNP actually belongs.

X Matching

Matching differential is huge in early testing.  One child may inherit as little as 20% of the X and another 90%.  Some first cousins carry none.

X matching will be an advanced feature and will have their own chromosome browser.

End of the year – January 1.  Happy New Year!!!

Population Finder

It’s definitely in need of an upgrade and have assigned one person full time to this product.

There are a few contention points that can be explained through standard history.

It’s going to get a new look as well and will be easily upgradeable in the future.

They cannot utilize the National Geographic data because it’s private to Nat Geo.

Bennett – “Committed to an engineering team of any size it takes to get it done.  New things will be rolling out in first and second quarter of next year.”  Then Bennett kind of sighed and said “I can’t believe I just said that.”

Session 4 – Dr. Connie Bormans – Laboratory Update

The Gene by Gene lab, which of course processes all of the FTDNA samples is now a regulated lab which allows them to offer certain regulated medical tests.

  • CLIA
  • CAP
  • AABB
  • NYSDOH

Between these various accreditations, they are inspected and accredited once yearly.

Working to decrease turn-around time.

SNP request pipeline is an online form and is in place to request a new SNP be added to their testing menu.

Raised the bar for all of their tests even though genetic genealogy isn’t medical testing because it’s good for customers and increases quality and throughput.

New customer support software and new procedures to triage customer requests.

Implement new scoring software that can score twice as many tests in half the time.  This decreases turn-around time to the customer as well.

New projects include improved method of mtDNA analysis, new lab techniques and equipment and there are also new products in development.

Ancient DNA (meaning DNA from deceased people) is being considered as an offering if there is enough demand.

Session 5 – Maurice Gleeson – Back to Our Past, Ireland

Maurice Gleeson coordinated a world class genealogy event in Dublin, Ireland Oct. 18-20, 2013.  Family Tree DNA and ISOGG volunteers attended to educate attendees about genetic genealogy and DNA. It was a great success and the DNA kits from the conference were checked in last week and are in process now.  Hopefully this will help people with Irish ancestry.

12% of the Americans have Irish ancestry, but a show of hands here was nearly 100% – so maybe Irish descendants carry the crazy genealogist gene!

They developed a website titled Genetic Genealogy Ireland 2013.  Their target audience was twofold, genetic genealogy in general and also the Irish people.  They posted things periodically to keep people interested.  They also created a Facebook page.  They announced free (sponsored) DNA tests and the traffic increased a great deal.  Today ISOGG has a free DNA wiki page too.  They also had a prize draw sponsored by the Ireland DNA and mtdna projects. Maurice said that the sessions and the booth proximity were quite symbiotic because when y ou came out of the DNA session, the booth was right there.

2000-5000 people passed by the booth

500 people in the booth

Sold 99 kits – 119 tests

45 took Y 37 marker tests

56 FF, 20 male, 36 female

18 mito tests

They passed out a lot of educational material the first two days.  It appeared that the attendees were thinking about things and they came back the last day which is when half of the kits were sold, literally up until they threatened to turn the lights out on them.

They have uploaded all of the lectures to a YouTube channel and they have had over 2000 views.  Of all of the presentation, which looked to be a list of maybe 10-15, the autosomal DNA lecture has received 25% of the total hits for all of the videos.

This is a wonderful resource, so be sure to watch these videos and publicize them in your projects.

Session 6 – Brad Larkin – Introducing Surname DNA Journal

Brad Larkin is the FTDNA video link to the “how to appropriately” scrape for a DNA test.  That’s his minute or two of fame!  I knew he looked familiar.

Brad began a peer reviewed genetic genealogy journal in order to help people get their project stories published.  It’s free, open access, web based and the author retains the copyright..  www.surnamedna.com

Conceived in 2012, the first article was published in January 2013.  Three papers published to date.

Encourage administrators to write and publish their research.  This helps the publication withstand the test of time.

Most other journals are not free, except for JOGG which is now inactive.  Author fees typically are $1320 (PLOS) to $5000 (Nature) and some also have subscription or reader fees.

Peer review is important.  It is a critical review, a keen eye and an encouraging tone.  This insures that the information is evidence based, correct and replicable.

Session 7 – mtdna Roundtable – Roberta Estes and Marie Rundquist

This roundtable was a much smaller group than yesterday’s Y DNA and SNP session, but much more productive for the attendees since we could give individual attention to each person.  We discussed how to effectively use mtdna results and what they really mean.  And you just never know what you’re going to discover.  Marie was using one of her ancestors whose mtDNA was not the haplogroup expected and when she mentioned the name, I realized that Marie and I share yet another ancestral line.  WooHoo!!

Q&A

FTDNA kits can now be tested for the Nat Geo test without having to submit a new sample.

After the new Y tree is defined, FTDNA will offer another version of the Deep Clade test.

Illumina chip, most of the time, does not cover STRs because it measures DNA in very small fragments.  As they work with the Big Y chip, if the STRs are there, then they will be reported.

80% of FTDNA orders are from the US.

Microalleles from the Houston lab are being added to results as produced, but they do not have the data from the older tests at the University of Arizona.

Holiday sale starts now, runs through December 31 and includes a restaurant.com $100 gift card for anyone who purchases any test or combination of tests that includes Family Finder.

That’s it folks.  We took a few more photos with our friends and left looking forward to next year’s conference.  Below, left to right in rear, Marja Pirttivaara, Marie Rundquist and David Pike.  Front row, left to right, me and Bennett Greenspan.

Goodbyes

See y’all next year!!!

______________________________________________________________

Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

2013 Family Tree DNA Conference Day 1

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8

This article is probably less polished than my normal articles.  I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write.  So you’re getting a spruced up version of my notes.  There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do.  Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry.  Max thought about this and said, really, not.  Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years.  The list included about 20 or so early adopters.  They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

Plaque Max and Me 2013

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators.  A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved.  When Max noted the admins who were leaders and are no longer with us, he could barely speak.  There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett remarks

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming.  Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time.  Her list of degrees would take a page or so.  She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card.  Then two months ago, Amy wound up sitting next to Max on another airplane.  It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers.  You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy?  How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here.  There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013.  I blogged about this at the time.

She spoke a bit about the history of this issue.

Mcguire

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA?  This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together.  Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor.  Is this a good thing or a bad thing?  Some feel that it’s unethical and an invasion of the privacy of the father.  But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved.  DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely.  Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907.  These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation.  “Three generations of imbeciles is enough.”  I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names.  The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived.  Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options.  53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release.  She notes that these were highly motivated people enrolled in a clinical study.  Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant.  Most people said they would participate if they were simply asked.  So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this.  I know several people who refused to participate in a research study because their results would not be returned to them personally.  All they wanted was information and to be treated respectfully.

What  the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well.  What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status.  It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA.  He has two children.  How does this affect his children?  Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information.  Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”.  Henrietta Lacks was a poor African-American woman with ovarian cancer.  At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research.  She was never informed or released anything, but then they were following the protocols of the time.  From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished.  The genome was eventually fully sequenced and published.  Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family?  And how does or should this affect policy?

How does this affect genetic genealogy?  Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics?  Should you have to talk to family members before anyone DNA tests?  Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy?  How about when the original tester dies?  Who has what rights and interests?  What about the unborn?  What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components.  Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over.  However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test.  Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved.  However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

Villars

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well.  This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents.  Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project.  More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years.  More than 360 ancient samples were collected across several different time periods.  There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially.  That’s for sure.  “We are reshaping the tree in an enormous way.”  What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year.  The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree.  Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.”  This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging.  I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA.  Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population.  This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America.  Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years.  Papers are coming within the next year about this.

They anticipate that interest will double within the next year.  They expect that based on recent discoveries, the 2015 Y tree will be much larger yet.  Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.”  The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science.  Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement.  He contacted his birth mother as an adult.  She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not.  Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’  With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4th grandparent by process of elimination.  While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA.    Here, Matt is discussing his children’s inheritance.

Matt dexter

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why.  Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous.  The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds.  Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue.  Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives.  This means that FTDNA’s Jewish “correction” seems to be working quite well.  Of course, they do have a great family group with which to calibrate their product.  Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish.  The non-Jewish group had almost exactly the opposite results.

  • Jewish people have from 1500-2100 matches.
  • Interfaith 700-1100 (Jewish and non)
  • NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project.  Jewish people match both Jewish and Interfaith families.  NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting.  This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried.  One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions.  Furthermore, the Jewish community has been endogamous longer than some of the other groups.  Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable.  I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central.  In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

 Estes Indian Princess photo

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held.  There were several topics.  Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended.  We had a wide range of expertise in the group and answered many questions.  One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well.  In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups.  This means they are listed on the “tree.”  So sometimes public and private can simply be a matter of timing and discovery.

FTDNA roundtable 2013

Here’s Bennett leading another roundtable discussion.

roundtable bennett

Session 7 – Dr. David Mittleman

Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur.  He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition.  He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology.  Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y.  It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well.  Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers.  This is not a test that a new customer would ever order.  The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

tech row

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit.  We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time.  We all bring food or drink and sometimes pitch in to rent the room.  We also spill out into the hallways where our impromptu “meetings” generally happen.  And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see.  Do we know how to party or what???

Here’s Linda Magellan working hard during the reception.  I think she’s ordering the Big Y actually.  We had several orders placed by admins during the conference.

magellan.jpg

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

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No (DNA) Bullying

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No Bullying

There are hardly any hobbies that hold more passion than genealogy.  Once hooked by the bug, most people never retire and one of the things they worry about passing down to their family are their genealogy records – even if the family of today isn’t terribly interested.

So it’s easy to understand the degree of passion and enthusiasm, but sometimes this passion can kind of go astray and it crosses the line from something positive to something not nearly so nice.

Genetic genealogy is the latest tool in the genealogists’ arsenal, but it introduces some new challenges and unfortunately, with the increased number of people testing, we’re seeing some examples of what I consider bullying – for DNA, for identification and for information.

Bullying is unwelcome aggressive behavior that involves repeated threats, physical or electronic contact or a real or perceived imbalance of power.  Generally, the victim feels they can’t make it stop.  This has become especially prevalent in the cyber age.  And bullying is not just about kids.

I’m going to look at 3 types of situations.  It’s easy to see both perspectives, but bullying by any other name is still bullying, even though the bully probably doesn’t see it that way.  Guaranteed, the recipient does.

You’ve Got the DNA I Need

Let’s say that Aunt Gladys is the last person alive in a particular line who can provide DNA to represent that line.  But Aunt Gladys, for whatever reason, doesn’t want to test.  It’s fine to discuss this, to talk about her concerns, and perhaps you can find a solution to address them, like testing anonymously.

But let’s say that Aunt Gladys simply says “no,” end of story.  What then?

Yes, Aunt Gladys carries the information that you need, but it’s HER DNA that needs to be tested, and if she says no, then her decision should be respected, as difficult as it may be and as unreasonable as it may seem.  Maybe Aunt Gladys knows something you don’t – like she is adopted or some other secret that she does not wish to reveal.  Badgering Aunt Gladys from this point forward is going to do nothing other than cause hard feelings and make Aunt Gladys want to avoid you.

You may think you’re “just discussing” but from her perspective, you may be bullying.  Now, it’s OK to beg and cry once, but if you’re slipped into the realm of “if you don’t test, I’ll tell Uncle Harvey that you scratched his car back in 1953,” you’ve stepped over that line.

Won’t Answer E-Mails

I can’t tell you how often I hear this story.  “I match with person XYZ and they won’t share their information.”  Most of the time, they won’t answer e-mails.  And the question follows, of course, as to why they tested in the first place.

These tests have been around for a number of years now.  Many people have died or moved or the purpose of the test was fulfilled and they aren’t interested beyond that.  Think of your Aunt Gladys.  If you did convince her to test, it wouldn’t be for her, but for you and she certainly would not be interested in answering random e-mails.

There could be a number of reasons, depending on the testing company used, that someone might not answer.  In particular, many people test at 23andMe for health reasons.  It doesn’t matter to them if you’re a first cousin or any other relation, they simply aren’t interested or don’t have the answers for you.

It’s alright to send 2 or 3 e-mails to someone.  E-mails do get lost sometimes.  But beyond that, you’ve put yourself into the nuisance category.  But you can be even worse than a nuisance.

I know of one case where someone googled the e-mail of their contact, discovered the person was a doctor, and called them at the office.  That is over the line into cyber-stalking.  If they wanted to answer the e-mail, they would have.  If they don’t want to, their decision needs to be respected.

I Know You Know

This situation can get even uglier.  I’ve heard of two or three situations recently.  One was at Ancestry where someone had a DNA match and their trees matched as well.  At first the contact was cordial, but then it deteriorated into one person insisting that the other person had information they weren’t divulging and from there it deteriorated even further.

This is a hobby.  It’s supposed to be fun.  This is not 7th grade.

Adoptions

However, there are other situations much more volatile and potentially serious. In some cases, often in adoptions, people don’t want contact.  Sometimes it’s the parent and sometimes it’s the adoptee.  But those aren’t the only people involved.  There are sometimes half-siblings that are found or cousins.

For the adoptees and the parents, there are laws in each state that govern the release of their legal paperwork to protect both parties.  Either party can opt out at any time.

But for inadvertently discovered family connections, this isn’t true.  Think of the person who doesn’t know they are adopted, for example, who discovers a half-sibling and through that half sibling their biological mother.  Neither person may welcome or be prepared for this discovery or contact.

Imagine this at the dinner table with the family gathered, “Hey guess what, I got a half-sibling match today on my DNA.  I wonder if that’s some kind of mistake.  How could that be?”

So if you match someone as a half sibling or a cousin, and they don’t want to continue the conversation, be kind and respectful, and leave the door open to them if they change their mind in the future.  Pushing them can only be hurtful and nonproductive.

Dirty Old (and Formerly Young) Men

And then, there’s the case of the family pervert.  Every family seems to have one.  But it’s not always who you think it is.  By the very nature of being a pervert, they hide their actions – and they can be very, very good at it.  Practice makes perfect.

Let’s say that Jane likes genealogy, but she was molested as a child by Cousin Fred.  Some of the family knows about this, and some don’t believe it.  The family was split by this incident, but it was years in the past now.  Jane wants nothing to do with Fred’s side of the family.

(By the way, if you think this doesn’t happen, it does.  About 20% of woman have been raped, 30% of them by family members (incest), many more molested, and children often by relatives or close family friends.  15% of sexual assault victims are under the age of 12.  Many childhood cases are never prosecuted because the children are too young to testify.  Perverts and pedophiles don’t wear t-shirts announcing such or have a “P” tattooed on their forehead.  Often family members find it hard to believe and don’t, regardless of the evidence, casting the victimized child in the position of being a liar and “troublemaker.”  Need convincing?  Think of what Ariel Castro’s family said and how well he hid his dark side and the Boston bombers’ family comments about their innocence in the face of overwhelming evidence to the contrary.)

Jane’s an adult now and DNA tests.  She has a match and discovers that it’s on Fred’s side of the family.  Jane tells the person that she doesn’t want anything to do with that side of the family, has no genealogy information and wants no contact.  The match doesn’t believe Jane and then becomes insistent, then demanding, then accusatory, then threatening.

This is clearly over the line.  Jane said she didn’t want any continued contact.  That should have been the end of the discussion.

But let’s say this one gets worse.  Let’s say that because of this, Cousin Fred wakes up and decides that Jane is interesting again and begins to stalk Jane, and her children……

Does this make you shake in your shoes?  It should.  Criminals not only aren’t always playing with a full deck, but don’t play by any of the same rules as the rest of us.  Cousin Fred might just be very grateful for that information about Jane and view it as a wonderful “opportunity,” provided by his “supportive” family member who has now endangered both Jane and her children.

Who’s Yer Daddy?

In another recent situation, John discovered by DNA testing that he is not the biological child of his father.  He subsequently discovered that his mother was raped by another male, married to another close family member.  When John discovered that information, he promptly lost interest in genealogy altogether.

A year or so later, John matched someone closely who was insistent that he provide them with how he was related to them.  John knew, but he did not feel that it was any of their business and he certainly did not want to explain any of the situation to the perpetrator’s family member, who, by the way, had already mentioned what a good person the perpetrator was.  However, the person continued to harass and badger John until he changed his e-mail address.

I so wanted to ask these people, “What part of “NO” don’t you understand?”

Mama’s Baby, Daddy’s Maybe

In one final example, adoptees often make contact with their birth mother first, and then, if at all, with their birth father.  Sometimes the birth mothers are not cooperative with the (now adult) child about the identity of their father.  Often, this is horribly frustrating to the adoptee.  In at least one case, I know of a birth mother who would never tell, leaving the child an envelope when she died.  The child was just sure the father’s name was in the envelope, but it was not.  I can only imagine that level of disappointment.

Why would someone be so reticent to divulge this information?  The primary reasons seem to be that either the mother doesn’t know due to a variety of circumstances that can range from intoxication to rape, the woman never told the father that she had a baby and placed the child for adoption, the father was abusive and the mother was/is afraid of him/his family, the father was married, or the father was a relative, which means not only might the father still be alive, the mother may still have a relationship of some type with him.  The mother may have lied for years to protect herself, and in doing so, protected the father as well.

Clearly, this situation has a lot of potential to “shift” a lot of lives and not always in positive ways.  One woman didn’t want to make contact with her child other than one time because she had never told her husband of 30 years that she had a child before their marriage.  One woman made contact, but did not want to divulge that the child’s father was her older brother, still alive.  Victims often keep the secrets of their attackers out of misplaced shame and guilt.  Think Oprah here.  Mother may not be simply being stubborn, but acting like the victim she is and trying to preserve whatever shreds of dignity are left to her.  She may also be embarrassed by a lapse in judgment.  One adoptee realized when counting forward from her birth date that she was conceived right at New Years and when she realized that, she figured out that her mother, who drank heavily when she was younger, probably did not know who her father was, and didn’t want to admit that.

As frustrating as this is for the adoptee, the birth mother does have the right not to have her life turned upside down.  Badgering her will only result in losing the potential for a relationship from the current time forward.  Being respectful, understanding and gentle may open the door for future information.

R-E-S-P-E-C-T

I can hear Aretha now.

If you haven’t walked a mile in their moccasins, so to speak, you can’t possibly know the situation of the person on the other end of your request for DNA or information.  Don’t make the mistake of stepping over the line from excitement into bully behavior.

Think of the potential situations the person on the other end may be dealing with.  Ultimately, if they say no, then no it is and no should be enough without an explanation of why.  Generally bullying doesn’t work anyway, because someone who feels like you are threatening them or being too aggressive will clam right up and it will be that proverbial cold day in Hades before they tell you anything.  It’s important to keep communications from sounding like you’re demanding or entitled.  My mother always said “you’ll catch more flies with honey than with vinegar.”  I always found that very irritating, probably because I needed to hear it just then – but regardless – it’s true.

Keep in mind, genetic genealogy is about genealogy.  It’s a hobby.   It’s fun.  If it becomes otherwise and puts people at jeopardy, then we need to take a step back and take a deep breath.

Most people don’t mean to cross the line into bullying.  They just get excited and sometimes desperate.  Hopefully this discussion will help us all be more aware of where the polite line is in communicating with our family members and matches.

If you are the victim of information bullying, cyber-stalking or someone puts you in an uncomfortable situation, there are steps you can take to remedy the situation.  Most bullying sites are directed at adolescents, but the advice still applies.

If you know you don’t want contact initially, then make your accounts anonymous or don’t respond to requests.  If you realize that you don’t want contact after the initial contact, for whatever reason, say so.  After that, do not engage in communications with someone who is attempting to bully you.  If they threaten you or threaten to reveal information or your identity if you don’t give them information or do something, that action falls into the blackmail realm, which a crime.  Complying with a threat to protect yourself or your family generally only results in more of the same.  You are not dealing with a nice person.  At this point, you are way beyond genealogy and your own internal “danger” sign should be flashing bright neon red.

If disengaging does not take care of the problem, save all messages/contacts and contact your attorney who may advise you to contact the police or the FBI if the problem crosses state lines.  Depending on what state you/they live in and exactly what they have done, you may have a variety of options if they won’t stop, especially if they do something that does in fact manage to turn your life upside down and/or a crime is involved, like blackmail.  Of course, this is akin to closing the barn door after the cow leaves.  Hopefully, the person causing the problem is simply an over-zealous genealogist, means you no harm, realizes what they have done or are doing, and will get a grip and compose themselves long before this point.

Bullying of course is not because of DNA or unique to genetic genealogy, but the new products introduce new social situations that we have not previously had tools to discover nor the opportunity to address in quite the same way.

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I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

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Hackers and Your Genetic Secrets

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Did that title get your attention?  Well, it was meant to, just like it was meant to in this NBC article titled “Scientists Demonstrate How Hackers Could Unlock Your Genetic Secrets.”  Or how about this one in the New York Times, “Web Hunt for DNA Sequences Leaves Privacy Compromised?”  Sensationalism sells….and so does fear.  Don’t panic, the sky is not falling.

I’ve had several people forward me a variety of links to several articles about this expressing concern.  Most people didn’t really understand what was going on…and since “family tree databases” were mentioned in the first paragraph, it frightened them.

This article says that the “security cracking trick relies on the availability of genetic information linked to surnames in a variety of public family-tree databases.”  Well, that’s sort of true, but not exactly true.  The issue is not the family tree databases, it’s the fact that the researchers in The Thousand Genomes Project, while keeping the names of those 1000 people “anonymous,” provided enough information that these scientific researchers, not hackers, were able to data mine the 1000 Genomes participants information to determine their Y-DNA marker values, then compared those haplotypes (marker values) just like we do in databases such as Ysearch and Sorenson.  And yes, they likely had matches to several surnames, like most of us do.

Individuals in the 1000 Genomes Project signed a release indicating that they knew that their data was to be used publicly, although their identity would not be revealed but that researchers could not guarantee their privacy.  The 1000 Genomes Project, unfortunately, posted the ages of the participants, which at the time seemed innocuous enough, and it was common knowledge within the scientific community that they all lived in Utah.  With these three pieces of information, their age, their location, and from the scientists data mining, a possible surname, the scientists were then able, if the surname wasn’t something like Smith or Jones, to use publicly available Google and “white pages” types of searches to find people in that state, of that age, by that surname, and then using obituaries and such, connect them through online family trees to their more distant families.  They did this with Craig Venter, for example.

This technique is nothing new to genealogists, as we’ve been finding cousins that way for years – the difference being of course that we didn’t data mine, otherwise in this case more aptly referred to as “scientific hacking,” the 1000 Genomes Project in order to find their Y-line DNA markers to determine a possible surname for them.  That is the issue and the point of this article and ironically, it’s scientists who did it, then published the “how-to” manual.

Any genetic genealogist knows, especially anyone dealing with adoptees, that you can only reveal a biological surname about 30% of the time.  In fact the scientists success rate was lower, 12%.  But that’s actually irrelevant in the bigger context of the article.  Their point was that they succeeded at all.

This is sort of like putting personal information on the internet, except your name, and then being surprised that someone could connect the dots and put the pieces together.  No one would be surprised today if that were to happen.  In fact, I’m sure we all have received cautions and warnings about putting too much info on Facebook because burglars were robbing homes when people were vacationing.  Many people have their hometown, their high school and their birthday and year publicly available on Facebook.  Now how many “security questions” does that answer right there?  Combine that with your dog’s name and your mother’s maiden name and you’ve got almost all of the common ones.

Aside from the fear-mongering, I have three issues with these reports as a whole.

1.  Statements like “they traced those three family tree pedigrees to find other connections between relatives and sensitive genetic data.”  Whoa, stop right there.  Just because you share a surname or even if you are a direct and immediate relative, that says nothing, absolutely nothing, about whether or not you inherited some genetically disposed health issue.  Remember, children inherit half of their DNA from each parent.  So unless they are finding identical twins or parents, one cannot infer that an entire family tree of people share frightening health traits.  It’s irresponsible to suggest otherwise.

2.  “For years, experts have worried that sensitive genetic data could be used to discriminate against patients, potential employees or would-be insurance customers.  Such discrimination is illegal when it comes to employment or health insurance, but the law doesn’t’ cover life insurance, disability insurance or long-term care insurance.  Theoretically an insurer could search through genetic records and turn you down because you have a genetic predisposition to, say, Alzheimer’s disease.”

Discrimination is an issue, and laws have been put in place to prohibit discrimination in the workplace.  But insurers aren’t going to sift through genetic data like a private investigator.  Suggesting this is unnecessary fear-mongering.  Insurers don’t do that, they simply tell you that a blood test is a pre-requisite of obtaining insurance.  I know, I bought life insurance and they sent a nurse to my house to verify my identity and take a blood sample.  At that time, they were looking for diabetes, AIDs and probably a whole lot more.  Today, they might be looking for genetic pre-dispositions.  I don’t know, but I do know they have a direct method of obtaining that information and it’s not spending untold hours sifting through someone else’s data that likely isn’t relevant to you anyway.

3.  This “research” project was inspired at Whitehead Institute, an affiliate of MIT, a publicly funded institution.  When Yaniv Erlich dreamed up this new hacking technique, he said he couldn’t resist trying it, so instead of simply discovering a potential issue and privately and quietly working with the proper people to resolve the issue, he decided to exploit it publicly, obtaining, I suppose, his 15 minutes of fame.  So yes, your tax dollars did indeed likely pay for some or all of this “research.”

In one of the articles,  Dr. Jeffrey R. Botkin, associate vice president for research integrity at the University of Utah, which collected the genetic information of some research participants whose identities were breached, cautioned about overreacting. “Genetic data from hundreds of thousands of people have been freely available online,” he said, “yet there has not been a single report of someone being illicitly identified.”  He added that “it is hard to imagine what would motivate anyone to undertake this sort of privacy attack in the real world.” But he said he had serious concerns about publishing a formula to breach subjects’ privacy. By publishing, he said, the investigators “exacerbate the very risks they are concerned about.”

Well, it’s obvious that these folks at Whitehead institute don’t live in the real world and clearly don’t have enough real scientific research to do.

So, what is the take home of all of this?

  • You are not at risk of having anything exposed in this incident unless you are one of the 1000 people in the 1000 Genomes Project.  If you are part of the 1000 Genomes Project, and male, there is a 12% risk that they figured out your last name and using other tools, possibly who you are, along with your family.  If you are related to someone in the 1000 Genomes Project, the researchers might have figured out that you are related to them.  So now the risk is that they’ll do what with that information???  Guaranteed, someone will figure out the same information and much more quickly, without your DNA and without government funding if you simply stop paying your bills.
  • If you participate in a research project, such as the 1000 Genomes Project, where your full results are made publicly available, you sign a release, and that release indicates that your privacy may not be able to be protected.  You are aware of the risks before you begin.
  • We, as a community, have been warned for years not to put information that might be medically informative on the internet, such as full sequence mitochondrial DNA information.  Anyone who does so, does it at their own risk.  The people in the 1000 Genomes Project knowingly took that risk.
  • If you stay within the confines of the genealogy and DTC mainstream testing companies, you are fairly well protected.  Having said that, reading the consent forms of any of the companies makes it clear that your identity is never entirely protected.  We’re genealogists after all.  What good is genealogical testing if you can’t contact people you match?
  • Inferred health risks are not the issue they are being portrayed to be in these articles.  Your cousins health risks are not necessarily yours.  Genetic inheritance is a complex and individual event.
  • Insurers who can use health information to restrict or deny insurance are simply going to request a blood sample.  They are not going to act like a blood hound on the scent of a rabbit and sort through tons of information for inferences.  Why would they when they can obtain the information they seek, directly and much less expensively?
  • For those researchers involved with information made publicly available, such at the 1000 Genomes Project, this is a wake-up call that perhaps less information available publicly is better.  Some information, such as ages and location should perhaps be available only to legitimate researchers, which would still have included the Whitehead Institute people, but would have taken away much of their thunder.  I understand this change has already been implemented, but that doesn’t entirely mitigate the issue of genetic data mining publicly available full genomic sequence information for identity, only makes it a little more difficult and less likely to succeed.
  • I clearly understand why hackers want my bank account information, and why identity thieves want my personal information, but why, in the real world, not at Whitehead institute, would anyone ever spend the time and effort to do this?  The motivation for these researchers was clearly to publish, but I can think of no reason other than that or simply “because they could” to spend the time doing something like this.  Who would want to and for what purpose?
  • The sky is not falling

It’s behind a paywall, but you can access the scientific article here that started all of this hubbub.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Security and Privacy

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Did you really mean to say that you didn’t want to see your matches????  Have you accidentally done this?

At Family Tree DNA, you may notice that some of your matches, especially at the 12 marker or HVR1 levels, particularly if you have a lot of matches, may be marked “private” and greyed out, with no contact or other information. What does this mean and why would someone take a DNA test for genealogy, then mark their results as private?

Those are great questions and there are several answers. First, some people don’t realize that the selection they make in their “Account Settings” tab affects how their results are displayed, or not displayed, to their matches.  They also don’t realize that it can suppress those matches for them as well.

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You can see that for both Y-line and mitochondrial DNA, you can disable matches and e-mail notification. This means that you won’t receive match notifications for 12 marker matches, if you disable that level, nor will any of your information be shown to your matches. Furthermore, you won’t see those matches either. They will not appear on your match list.  In fact, you won’t have a match list for the level you disable.

Some people only test at 12 markers, for example, so if you disable 12 marker matches, be absolutely sure that you really don’t want to be notified if you match someone with the same surname at 12 markers that did not test at a higher level. If you disable these notifications and matches, this is what your matches will see:

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As you can see, your match will be able to see your surname only, how many mutations difference there is between you and them, no “most distant ancestor,” no haplogroup information and more importantly, no way to contact you. This is typically not what people mean to do, but this is the result.

In one case, a man was distraught because he had no matches, but had disabled matches at all levels of testing, so of course, none showed. He had matches, he just couldn’t see them and he didn’t notice the message that said he had disabled matching at that level. He thought that the only function he had disabled was the e-mail match messages, but that wasn’t the case. It’s all or nothing at each level.  You can’t disable the messages without disabling the matches too.

There are other security options you can select as well. Some, are found under “Personal Profile” settings, others under “Account Settings,” and finally, a beneficiary designation in case something should happen to you. This is the only person that Family Tree DNA will allow to access your account. Please take a little time to click through these options so that you personalize your experience in such a way that best fits your testing goals.

Aside from your matches and project displays, the only other people who can see your information are the volunteer group administrators of the groups you join. You can control, by your selections, how much they can view. There are several items they can view, but not change, such as your e-mail address, for example.  Group administrators have a set of guidelines that they must follow.

In the case of mitochondrial DNA, if you have tested at the full sequence level, the project administrators of haplogroup projects cannot see your full sequence level which is necessary to categorize your results into subgroups unless you specifically change your setting to allow them to view your mitochondrial full sequence results. This is found under “Account Settings” then “Results Display Settings.” Change the answer to yes for the appropriate projects.

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The key, of course, to privacy and security is to have as much privacy as you wish, without actually hurting your chances of making genealogical connections, and contacts, which is, after all, the entire reason that you tested in the first place.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research