Beware The Sale of Your DNA – Just Because You Can Upload Doesn’t Mean You Should

You know something is coming of age when you begin to see knockoffs, opportunists – or ads on late night TV. As soon as someone figures out they can make money from something, rest assured, they will.

In the past few weeks, we’re beginning to see additional “opportunities” for places to upload your DNA files. Each of them has something to “give” you in return.  You can view this as genuine, or you can view this as bait – or maybe some of each.

So far, each of them also seems to have an agenda that is NOT serving us or our DNA – but serving only or primarily them. I’m not saying this is good or bad – that depends on your perspective – but I am saying that we need to be quite aware of a variety of factors before we participate or upload our autosomal DNA results.

Some sites are more straightforward than others.

I have already covered the fact that both 23andMe and Ancestry sell your DNA to whomever for whatever they see fit.

Truthfully, I always knew that 23andMe was focused on health, but I mistakenly presumed it was on the study of diseases like Parkinson’s. My mother was diagnosed with Parkinson’s, so I had a personal stake in that game.  When their very first patent was for “designer babies,” I felt shell-shocked, stupid, naïve, duped and taken advantage of. I had willingly opted-in and contributed my information with the idea that I was contributing to Parkinson’s research, while in reality, my DNA may have been used in the designer baby patent research.  I have no way of knowing and I had no idea that’s the type of research they were doing.

Parkinson’s yes, designer babies no.  It’s a personal decision, but once your DNA is being utilized or sold, it can be used for anything and you have no control whatsoever.  While I was perfectly willing to participate in surveys and have my DNA utilized for a cure for diseases, in particular Parkinson’s, I was not and am not willing for my DNA to be utilized for things like designer babies so the wealthy can select blue eyed, blonde haired children carrying the genes most likely to allow them to become athletes or cheerleaders.

And once the DNA cat is out of the bag, so to speak, there is no putting it back in. In some cases, you can opt out of identified data, but you can’t opt out of what has already been used, and in many cases, you can’t opt out of having your anonymized data sold.

So, let me give you an example of just how much protection anonymizing your data will give you.

Anonymized Data

Let’s say that someone in one of those unknown firms wants to know who I am. All they have to do is drop my results into GedMatch and my name is right there, along with my e-mail.

Have a fake name at Gedmatch? Well, think for a minute of the adoption search groups and how they identify people, sometimes very quickly and easily by their matches.  Everyday.

Not to mention, my children (and my parents, were they living) are very clearly identifiable utilizing my DNA. So while my DNA is mine, and legally belongs to me, it’s not entirely ONLY mine.

The promise of anonymized data by stripping out your identifying information has become somewhat of a hollow promise today. In a recent example, a cholesterol study volunteer recognized “herself” in a published paper, but was not notified of the results. In an earlier paper, several Y DNA volunteers were identified as well. Ironically, Dr. Erlich, now having formed DNA.Land and soliciting DNA uploads was involved with this unmasking.

Knowing what I know today, I would NEVER have tested at 23andMe and I would have to think very long and hard about Ancestry. The hook that Ancestry has, of course, is all of those DNA plus matching trees.  Is having my anonymized DNA sold worth that?  I don’t really know.  For me, it’s too late for an Ancestry decision, because I’ve already tested there and you cannot opt out of having your anonymized data sold.

I already had an Ancestry subscription, but some testers don’t realize they have to have at least a minimum level subscription to receive all of the benefits of testing at Ancestry. That could certainly be a rude awakening – and unexpected when they purchased the test.  The $49 DNA base subscription is not available on Ancestry’s website either – you have to know about it and call support to purchase that level.  I’m sure most people simply purchase the normal subscription or do without.

One thing is for sure, our DNA is worth a lot of money to both research and Big Pharm, and apparently worth a lot of effort as well, given how many people are attempting to capture our DNA for sale.

In the past few weeks, there have been several new sites that have come online relative to autosomal DNA uploading and testing.

But before we talk about those, I’d like to take a moment for education.

The Sanger Survey

Sanger survey

I’d like to suggest that you take a few minutes to view the videos associated with the Sanger Institute DNA survey here. I think the videos do a good job of explaining at least some of the issues facing people about the usage of their DNA.  Of course, you have to take their survey to see the videos at each step – but it’s good food for thought and they do allow you to make comments.

So, please, take a few minutes for this survey before proceeding.

Genes and US

One of the first “sidebar” companies to appear in September 2014 was at the site   http://www.genesand.us/ which is now nonfunctional.

I took screen shots at that time, since I was going to write an article about what seemed quite interesting.

Genesandus

It was a free service that offered to “find the best genes that you can give to your child.” You had to test at 23andMe, then upload both you and your partner’s raw DNA files and they would provide you with results.

I did just that, and the screen shot below shows the partial results. There were several pages.

Genesandus1

At the end of this section was a question asking if I wanted to “speak to a doctor about any of these benefits.” I didn’t, but I did want to know if gene selection was actual possible and being implemented.  I found the site’s contact information.  I sent this e-mail, which was never answered.

genesandus2

So let me ask you…where is my and my husband’s DNA today? I uploaded it.  Who has it?  Was this just a ploy to obtain our DNA files?  And for what purpose?  Who were these people anyway?  They are gone without a trace today.

DNA.Land

More recently, in the fall of 2015, DNA.Land came upon the scene.

As of today, 22,000+ people have uploaded their autosomal DNA files.

dna.land

What does DNA.Land offer the genealogist?

A different organization’s view of your ethnicity as well as relative matching to others who upload.

The quality and reliability of these enticements offered by companies in exchange for our DNA files may vary widely. For example, when DNA.Land launched, their matching routine didn’t find immediate family members.  No product should ever be launched in an alpha state, which calls into question the quality of the rest of their products and research.  That matching problem has reportedly been fixed.

The second enticement they offer is an ethnicity tool.

I can’t show you my example, because I have not uploaded my DNA to DNA.Land.   However, a genetic genealogy colleague conducted an interesting experiment.

TL Dixon uploaded four DNA files in late April 2016. He tested twice at 23andMe, both tests being the v3 version, and twice at Ancestry, in 2012 and 2014, and uploaded all 4 files to DNA.Land to see what the results would be, comparatively.

TL 23andMe test 1

23andMe v3 test 1

TL 23andme test 2

23andMe v3 test 2

TL Ancestry test 1 2014

Ancestry test from 2014

TL Ancestry test 2 2012

Ancestry test from 2012

We all know that ethnicity testing as a whole is not terribly reliable, but is the most reliable on the continent level, meaning Africa vs Europe vs Asia vs Native American. Given that these raw data files are from the same testing companies, on the same chip platform, for the same person, the Ancestry 2012 and 2014 ethnicity results from DNA.Land are quite different from each other relative to African vs Eurasian DNA, and also from the 23andMe results – even at the continent level.  Said another way, both 23andme results and the Ancestry 2014 results are very similar, with the Ancestry 2012 test, shown last, being the outlier.

Thanks to TL Dixon for both his multiple testing and sharing his results. According to TL’s known family history, the two 23andMe and the Ancestry 2014 kits are closest to accurate.  Just as an aside, TL, surprised by the differing results, utilized David Pike’s utilities to compare the two Ancestry files to see if one had a problem, and they were both very similar, so the difference does not appear to be in the Ancestry kits themselves – so the difference has to be at DNA.Land.

So, what I’m saying is that DNA.Land’s enticement of a different company’s view of ethnicity, even after several months, and even at the continent level, still needs work. This along with the original matching issue calls into question the quality of some of the enticements that are being used to attract DNA donors.  We should consider this not only at this site, but at others that provide enticement or “free” services or goodies as well.  Uploaders beware!

While the non-profit status of DNA.Land along with their verbiage leads people to believe that their work is entirely charitable, it is not, as reflected in this sentence from their consent information.

I understand that the research in this study may lead to new products, research tools, or inventions that have financial value. By accepting the terms of this consent, I understand that I will not be able to share in the profits from future commercialization of products developed from this study.

At least they are transparent about this, assuming you actually read all of the information provided on the site – which you should do with every site.

My Heritage Adds DNA Matching

This past week, My Heritage, a company headquartered in Israel, announced that it has added autosomal DNA matching. Some people think this is great, and others not so much.

MyHeritage

My Heritage, like Ancestry, is a subscription site. I happen to already be a member, so I was initially pretty excited about this, especially when I saw this in their blog.

Your DNA data will be kept private and secure on MyHeritage.

Our service will then match you to other people who share DNA with you: your relatives through a common ancestor. You will be able to review your matches’ family trees (excluding living people), and filter your matches by common surnames or geographies to focus on more relevant matches.

And also:

Who has access to the DNA data?

Only you do. Nobody else can see it, and nobody can even know that it was uploaded. Only the uploader can see the data, and you can delete it at any time. Users who are matched with your DNA will not have access to your DNA or your email address, but will be able to get in touch with you via MyHeritage.

I was thinking this might be a great opportunity, perhaps similar to the Ancestry trees, although they don’t say anything about tree matching.

However, their Terms of Service are not available to view unless you pretend to start an upload of your DNA (thanks for this tip Ann Turner) and then the “Terms of Service” and “Consent Agreement” links become available to view. They should be available for everyone BEFORE you start your upload.

On the MyHeritage main site, you’ll see DNA matching at the top. I’m a member, so, if you’re not a member, your “main site” may look different.

MyHeritage1

Click on “learn more” on the DNA Matching tab.

MyHeritage2

Step two shows you two boxes saying you have read the DNA Terms of Use and Consent Agreement. Don’t just click through these – read them.  Not just at this vendor, at all vendors.

In the required DNA Terms of Use we find this in the 5th paragraph:

By submitting DNA Results to the Website, you grant MyHeritage a perpetual, royalty-free, world-wide, transferable license to use your DNA Results, and any DNA Results you submit for any person from whom you obtained legal authorization as described in this Agreement, and to use, host, sublicense and distribute the resulting analysis to the extent and in the form or context we deem appropriate on or through any media or medium and with any technology or devices now known or hereafter developed or discovered.

And this in item 7:

c. We may transfer, lease, rent, sell, share and/or or otherwise distribute de-identified information to third parties for any purpose, including without limitation, internal business purposes. Whenever we transfer, lease, rent, sell, share and/or or otherwise distribute your information to third parties, this information will be aggregated and personal identifiers (such as names, birth dates, etc.) will be removed.

In the optional Informed Consent agreement, we find this:

The Project collects, preserves and analyzes genealogical lineage, historical records, surveys, genetic information, and other records (collectively, “Research Information“) provided by users in order to conduct research studies to better understand, among other things, human evolution and migration, population genetics, regional health issues, ethnographic diversity and boundaries, genealogy and the history of the human species. Researchers hope that the Project will be an invaluable tool for a wide range of scholars and researchers interested in genealogy, anthropology, evolution, languages, cultures, medicine, and other topics and that the Project may benefit future generations. Discoveries made as a result of the Project may be used in the study of genealogy, anthropology, population genetics, population health issues, cultures, trends (for example, to identify health risks or spread of certain diseases), and other related topics. If we or a third party wants to conduct a study (1) on topics unrelated to the Project, or (2) using Research Information beyond what is described in this Informed Consent, we will re-contact you to seek your specific approval. In addition, we may contact you to ask you to complete a questionnaire or to ask you if you are willing to be interviewed about the Project or other matters.

  1. What are the costs and will I receive compensation? MyHeritage will not charge participants any fees in order to be part of the Project. There will be no financial compensation paid to Project participants. The data you share with us for the Project may benefit researchers and others in the future. If any commercial product is developed as a result of the Project or its outcomes, there will be no financial benefit to you.

You can’t see the terms of use or consent agreement unless you are in the process of uploading your DNA and in addition, it appears that your DNA data is automatically available in anonymized fashion to third parties. The terms of service and informed consent data above does not seem to correlate with the marketing information which states that “nobody else” can see your data.

The other thing that’s NOT obvious, is that you don’t HAVE to click the box on the Consent Agreement, but you do HAVE to click the box on the DNA Terms of Use.

If you are not alright with the entirety of the DNA Terms of Use, which is required, do not upload your DNA file to My Heritage.  If you are not alright with the Consent Agreement, don’t click the box.  Judy Russel wrote an detailed article about the terms here.

Uploading your DNA to MyHeritage is free today, but may be a pay service later. It is unclear whether a subscription is required today, or will be in the future.  However, at one time one could upload a family tree of up to 250 people to MyHeritage for free through 23andMe.  Larger files were accepted, but were only free for a certain time period and now the person whose tree was larger than 250 people and who did not subscribe is locked out of their account.  They can’t delete their larger-than-250 person tree unless they purchase a subscription.  It’s unclear what the future holds for DNA uploads, trees and subscriptions as well.

I have not uploaded my DNA to MyHeritage either, based on 7c. It would appear that even if you don’t give consent for additional “research information” to be collected and provided, they can still sell your anonymized DNA.

WeGene

WeGene

Very recently, a new company, WeGene at http://www.wegene.com has begun DNA testing focused on the Chinese marketplace.

Their website it in Chinese, but Google translates it, at least nominally, as does Chrome.

WeGene1

WeGene2

It does not appear that WeGene does matching between their customers, or if they do, I’ve missed it in the translations.

You can, however, upload at least 23andMe files to WeGene. I can’t tell about Family Tree DNA and Ancestry files.  Unless you have direct and fairly recent Chinese ancestry, I don’t know what the benefit would be.

Their privacy and security, such as it is, is at this link, although obviously autotranslated. Some people seem to have found other verbiage as well.  Navigating their site, written in Chinese, is very difficult and the accuracy of the autotranslation is questionable, at best.

Their autosomal DNA file is obviously available for download, because GedMatch now accepts these files.

I am certainly not uploading my DNA to WeGene, for numerous reasons.

Vendor Summary

This vendor summary was more difficult to put together than I thought it would be – in part because I am not a new user at either Ancestry or 23andMe and obviously can’t see what a new user would see on any of my accounts. Furthermore, Ancestry in particular has several documents that refer back and forth to each other, and let’s just say they are written more for the legal mind than the typical consumer.

vendor summary

* – Both 23andMe and Ancestry appear to utilize all clients DNA for anonymized distribution, but not for identified distribution without an individual opt-in.

*1 – According to the 23andMe Privacy Policy, although you can opt in to the higher level of research testing where your identity is not removed, you cannot opt out of the anonymized level of DNA sharing/sale. Please review current 23andMe documentation before making a decision.

*2 – Can Opt in or Opt out.

*3 – Can opt out of non-anonymized sales, but not anonymized sales. Please verify utilizing the current Ancestry documents before making a decision.

*4 – DNA.land indicates that you can withdraw consent, but does not say anything about deleting your DNA file.

*5 – DNA.Land states in their consent agreement that they will not provide identified DNA information without first contacting you.

*6 – At 23andMe, deleting DNA from data base closes account.

*7 – Automatically opted in for anonymized sales/sharing, but must opt in for identified DNA sharing.

*8 – 23andMe has been and continues to experience significant difficulties and at this point are not considered a viable genetic genealogy option by many, or stated another way, they would be the last choice of the main three testing companies.

*9 – All legal action must be brought in Tel Aviv, Israel, individually, and not as a class action suit, according to item 9 in the DNA Terms of Use document.

*10 – Website in Chinese, information through an automated English translator, so the information provided here is necessarily incomplete and may not be entirely accurate.

Please note that any or all of these factors are subject to change over time and the vendors’ documents should be consulting and read thoroughly at the time any decision is being made.

Please note that at some vendors there are many different documents that cross-reference each other. They are confusing and should all be read before any decision is made.

And of course, some vendors’ websites aren’t even in English.

Points to Consider

While these companies are the ones that have come to the forefront in the past few months, there will assuredly be more as this industry develops. Here are a list of things for you to think about and points to consider that may help you make your decision about whether you want to either test or upload your autosomal DNA with any particular company.  After all, your autosomal DNA file does contain that obviously much-sought-after medical information.

First, always read every document on a vendor site that says anything like “Terms of Use,” “Security and Privacy” or “Terms of Service” or “Informed Consent.” Many times the fine print is spread throughout several documents that reference each other.  If their policy does not say specifically, do NOT assume.

Also be aware that the verbiage of most companies says they can change their rules of engagement at any time without notification.

Here are the questions you may want to consider as you read these documents.

  • Does the company or organization sell or share your data?
  • Is the data that is sold or shared anonymized or nonanonymized, understanding that really no one is truly anonymous anymore?
  • Who do they sell your data to?
  • For what purpose?
  • Do you have the opportunity to authorize your DNA’s involvement per study?
  • If you do not live in the same country as the company with whom you are doing business, what recourse do you have to enforce any agreement?
  • How do you feel about your DNA being in the hands of either organizations or companies you don’t know for purposes you don’t know?
  • Are you asked up front if you want to participate?
  • Can you opt out of your DNA being shared or sold entirely from the beginning?
  • Can you opt out of your DNA being shared or sold entirely at any time if you have initially opted in?
  • Do you receive the opportunity to opt in, or are you automatically opted in?
  • If you are automatically opted in, do you get the opportunity, right then, to opt out, or only if you happen to discover the situation? And if you can opt out immediately, are you only able to opt out of non-anonymized data or can you opt out entirely?
  • Is the company up front and transparent about what they are doing with your DNA or do you have to dig to unearth the truth?
  • If you already tested, and gave up rights, were you aware that you did so, and do you understand if or how you can rescind that inadvertent authorization?
  • Do you have to dig for the terms of service and are they as represented in the marketing literature?
  • Do you feel like you are giving truly informed consent and understand what can and will happened to your DNA, and what your options are if you change your mind, and how to exercise those options? Are you comfortable with those options and the approach of the company towards DNA sale as a whole? Were they forthright?
  • For companies like MyHeritage and Ancestry, are their other unknown “gotchas” like a subscription being required in addition to testing or uploading to obtain the full benefits of the test or upload?
  • What happens to your DNA if the company no longer exists or goes out of business? For two examples, look at the Sorenson and Ancestry Y and mtDNA DNA results. This is certainly not what any consumer or tester expected. Not to mention, I’m left wondering where my DNA submitted to genesandus is today.
  • Who owns the company?  What are their names?  Where can you find them?  What is the address of the company?  What does google have to say about the owners or management?  Linked-In?  Facebook?  If there is absolutely no history, that’s probably as damning as a bad history.  No one can exist today in a professional capacity and have no history.  Just saying.
  • Is the company acting in any way that would cause you not to trust them, their motives or agenda?  As my mother used to say, the best predictor of future behavior is past behavior.

Near and Dear to My Heart

I have family members who work in the medical field in various capacities. I also have family members who have or have had genetically heritable conditions and like everyone else, I would love to see those diseases cured.  My reticence to donate my DNA to whomever for whatever is not a result of being heartless.  It’s a function of wanting to be in control of who profits with/from my DNA and that of my family.

Let me share a personal story with you.

My brother died of cancer in 2012. He went for chemo treatments every two weeks, and before he could have his chemo treatment, he had to have bloodwork to assure that his system was able to handle the next dose of chemo.

If his white cell count was below a certain threshold, a shot of a drug called Neulasta was available to him to stimulate his body to increase the white blood cells. The shots were $8000 a piece.  And no, that is not a typo.  $8000!  His insurance did not cover the shots, because as far as they were concerned, he could just wait until his white cell numbers increased of their own accord and have the chemo then.  Of course, delaying the chemo decreased his chances of survival.

Over the course of his chemo, he had to have three of these $8000 shots. Fortunately, he did have the money to pay, although he did have to reschedule his appointment because he was required to bring a cashier’s check with the full payment in advance before the clinic would administer the shot.  After that, he simply carried an $8000 cashier’s check to each appointment, just in case.

I do not for one minute believe that those shots COST $8000 to manufacture, but I do believe that the pharmaceutical industry could, would and does CHARGE $8000 to desperate patients in order to continue the chemo that is their only hope of life. For those whose insurance pays, it’s entirely irrelevant. For those whose insurance does not pay, it’s a matter of life and death.  And yes, I’m equally as angry with the insurance company, but they aren’t the ones asking for me to do donate my DNA.

So, as for my DNA, no Big Pharm company will ever get their hands on it if there is ANYTHING I can do about it – although it’s probably too late now since I have tested with both 23andMe and Ancestry, who do not allow you to opt out entirely. I wish I had known before I tested.  At least I would have been giving informed consent, which was not the case.

Consequently, I want to know who is doing what with my DNA, so that I have the option of participating or not – and I want to know up front – and I don’t want it hidden in fine print with the company hoping I’ll just “click through” and never read the documentation. I don’t want it to be intentionally or unintentionally confusing, and I want unquestionable full disclosure – ahead of time.  Is that too much to ask?

My brother had the money for the shots, and he died anyway, but can you imagine being the family of someone who did not have $24,000?

And if you think for one minute that Big Pharm won’t do that, consider Turing Pharmaceuticals CEO Martin Shkreli, dubbed “the most hated man in America” in September 2015 for gouging patients dependent on a drug used for HIV and cancer treatment by raising the price from $13.50 per pill to $750 for the same pill, a 5,556% increase – because he could.

Medical research to cure disease I’m supportive of in terms of DNA donation, but not designer babies and not Big Pharm – and today there seems to be no way to separate the bad from the good or to determine who our DNA is being sold to for what purpose. Worse yet, some medical research is funded by Big Pharm, so it’s hard to determine which medical research is independent and which is not.

The companies selling our DNA and Big Pharm are the only people who stand to benefit financially from that arrangement – and they stand to benefit substantially from our contributions by encouraging us to “help science.” We’ll never know if a study our donated DNA was used for produced a new drug – and if it’s one we can’t afford, you can bet the pharmaceutical industry and manufacturers care not one whit that we were one of the people who donated our DNA so they could develop the drug we can’t afford.  If any industry should not be soliciting free DNA donations for research, Big Pharm is that industry with their jaw-dropping profits.

So, How Much is Our DNA Worth Anyway?

I don’t know, directly, but we can get some idea from the deal that 23andMe struck with pharmaceutical company Genentech, the US unit of Swiss drug company, Roche, in January 2015, as reported by Forbes.

Quoting now, directly from the Forbes article:

According to sources close to the deal, 23andMe is receiving an upfront payment from Genentech of $10 million, with further milestones of as much as $50 million. The deal is the first of ten 23andMe says it has signed with large pharmaceutical and biotech companies.

Such deals, which make use of the database created by customers who have bought 23andMe’s DNA test kits and donated their genetic and health data for research, could be a far more significant opportunity than 23andMe’s primary business of selling the DNA kits to consumers. Since it was founded in 2006, 23andMe has collected data from 800,000 customers and it sells its tests for $99 each. That means this single deal with one large drug company could generate almost as much revenue as doubling 23andMe’s customer base.

The article further says that the drug company was particularly interested in the 12,000 Parkinson’s patients and 1,300 of their parents and siblings who had provided family information. Ten million divided by 13,300 means Genentech were willing to pay $750 for each person’s DNA, out the door.  So the tester paid $99 or upwards, depending on when they tested – $1000 before September 2008 when the test dropped to $399, to 23andMe and then 23andMe made another $750 per kit from the tester’s donated DNA results.

And that’s before the additional $50 million and the other deals 23andMe and the other DNA-sellers have struck with Big Pharm. So yes indeed, our DNA is worth a lot.

It’s no wonder so many people are trying to trying to find a way to entice us to donate our results so they can sell them. In fact, it’s a wonder, and a testament to their integrity, that there is ANY company with access to our DNA results that isn’t selling them.  In fact, there are only two companies, plus the Genographic Project.

Who Doesn’t Share or Sell Your Autosomal DNA?

Of the major companies, organizations and sites, the only three, as best I can tell, that do not share or sell your autosomal DNA (or reserve the right to do so) and specifically state that they do not are National Geographic’s Genographic Project , Family Tree DNA and GedMatch.

Of those three, Family Tree DNA, a subsidiary of Gene by Gene is the only testing company and says the following:

Gene by Gene collects, processes, stores and shares your Personal Information in a responsible, transparent and secure environment that fosters our customers’ trust and confidence. To that end, Gene by Gene respects your privacy and will not sell or rent your Personal Information without your consent.

National Geographic utilizes Family Tree DNA for testing, and the worst thing I could find in their privacy policy is that they will share:

  • with other selected third parties so that they may send you promotional materials about goods and services that they offer. You have the opportunity to opt out of our sharing information about you as described below in the section entitled “Your Choices”;
  • in accordance with your consent.

Nothing problematic here.

Your Genographic DNA file is only uploadable to Family Tree DNA and Nat Geo does not accept uploaded data from other vendors.

GedMatch, which allows users to upload their raw data files from the major testing companies for comparison says the following:

It is our policy to never provide your genealogy, DNA information, or email address to 3rd parties, except as noted above.

Please refer to the entire documents from these organizations for details.

Serious genealogists have probably already uploaded to GedMatch and tested at or uploaded to Family Tree DNA as well, so people are unlikely to find new matches at new sites that aren’t already in one of these two places.

To Be Clear

I just want to make sure there is no confusion about which type of companies we’ve been referencing, and who is excluded, and why. The only companies or organizations this article applies to are those who have access to your raw data autosomal DNA file.  Those would be either the companies who test your autosomal DNA (National Geographic, Family Tree DNA, Ancestry and 23andMe in the US and WeGenes in China), or if you download your raw data file from those companies and upload it to another company, organization or location, as discussed in this article.  The companies and organizations discussed may not be the only firms or organizations to which you can upload your autosomal DNA file today, and assuredly, there will be more in the future.

The line in the sand is that autosomal DNA file. Not your Y DNA, not your mitochondrial DNA, not your match list – just that raw data file – that’s what contains your DNA information that the medical and pharmaceutical industry seeks and is willing to pay handsomely to obtain.

There are other companies and organizations that offer helpful tools for autosomal DNA analysis and tree integration, but you do NOT upload your raw data file to those sites. Those sites would include sites like www.dnagedcom.com and www.wikitree.com. I want to be sure no one confuses sites that do NOT upload or solicit the upload of your raw autosomal DNA files with those that do.  I have not discussed these sites that do not upload your autosomal DNA files because they are not relevant to this discussion.

This article does not pertain to sites that do not utilize or have access to your autosomal raw data file – only those that do.

Summary

As the number of DNA testing consumers rises, the number of potential targets for DNA sales into the medical/pharmaceutical field rises equally, as does the number of targets for scammers.

Along with that, I increasingly feel like my ancestors and the data available through my DNA about my ancestors, specifically ethnicity since everyone seems to be looking for a better answer, is being used as bait to obtain my DNA for companies with a hidden, or less than obvious, agenda – that being to obtain my DNA for subsequent sale.

I greatly appreciate the Genographic Project, Family Tree DNA and GedMatch, the organizations who either test or accept autosomal file uploads do not sell my DNA, and I hope that they are not forced into that position economically in order to survive. It’s quite obvious that there is significant money to be made from the sale of massive amounts of DNA to the medical and pharmaceutical communities.  They alone have resisted that temptation and stayed true to the cause of the study of indigenous cultures and population genetics in the case of Nat Geo, and genetic genealogy, and only genetic genealogy in the case of Family Tree DNA and GedMatch.

In other words, just because you can doesn’t mean you should.

Frankly, I believe selling our data is fundamentally wrong unless that information is abundantly clear, as in truly informed consent as defined by the Office for Human Research Protections, in advance of purchasing (or uploading) the test, and not simply a required “click through box” that says you read something. I would be much more likely to participate in anything that was straightforward rather than something that was hidden or not straightforward, like perhaps the company or organization was hoping we wouldn’t notice, or we would automatically click the box without reading further, thinking we have no other option.

The notice needs to say something on the order of, “I understand that my DNA is going to be sold, may be used for profit making ventures, and I cannot opt out if I order this DNA test,” if that is the case. That is truly informed consent – not a check box that says “I have read the Consent Document.”

Yes, the companies that sell DNA testing and our DNA results would probably receive far fewer orders, but those who would order would be truly informed and giving informed consent. Today, in the large majority of cases, I don’t believe that’s happening.

We need to be aware as consumers and make informed decisions. I’m not telling you whether you should or should not utilize these various companies and sites, or whether you should or should not participate in contributing your DNA to research, or at which level, if at all. That is a personal decision we all have to make.

But I will tell you that I think you need to educate yourself and be aware of these trends and issues in the industry so you can make a truly informed decision each and every time you consider sharing your DNA. And you should know that in some cases, your DNA is being sold and there is absolutely nothing you can do about if it you utilize the services of that company.

Above all, read all of the fine print.

Let me say that again, channeling my best Judy Russell voice.

ALWAYS, READ ALL OF THE FINE PRINT!!!

ALWAYS.
READ.
ALL.
OF.
THE.
FINE.
PRINT.

Unfortunately, things are not always as they seem on the surface.

If you see a click-through box, a red neon danger light should now start flashing in your brain and refuse to allow you to click on that box until you’ve done what? Read all the fine print.

There really is no such thing as a free lunch – so be judiciously suspicious.

I will leave you with the same thought relative to testing companies and upload opportunities that I said about companies selling our data. Just because you can doesn’t mean you should.

I think early in this game we all got excited and presumed the best about the motives of companies and organizations, like I did with both 23andMe and genesandus, but now we know better – and that there may be more to the story than initially meets the eye.

And besides that, we all know that presume is the first cousin to assume…and well, we all know where this is going.  And by the way, that’s exactly how I feel about genesandus who disappeared with my and my husband’s DNA.  I wasn’t nearly suspicious or judicious enough then…but I am now.

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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

Family Finder Matching Thresholds Changing at Family Tree DNA

By Endlisnis – Street limbo 3, CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=45772088

A long-requested change is taking place shortly at Family Tree DNA – although we don’t have a firm date as of yet.  Final testing before release is still underway.

I received a notification from Family Tree DNA, as follows:

You asked for it and we listened!

Currently, the current matching thresholds – the minimum amount of shared DNA required for two people to show as a match are:

  • Minimum longest block of at least 7.69 cM for 99% of testers, 5.5 cM for the other one percent
  • Minimum 20 total shared centiMorgans

Some people believed those thresholds to be too restrictive, and through the years requested changes that would loosen those restrictions.

In the near future, as soon as the quality assurance process is complete, the following changes will be implemented to the matching program.

  • No minimum shared centiMorgans, but if the cM total is less than 20, at least one segment must be 9 cM or longer.
  • If the longest block of shared DNA is greater than 9 cM, the match will show regardless of total shared cM or the number of matching segments.

The entire existing database is being rerun using the new matching criteria, and all new matches calculated with the new thresholds.

Most people will see only minor changes in their matches, mostly in the speculative range. They may lose some matches but gain others.

This is truly exciting news, especially for people with African American heritage whose connections to matches may be several generations back in time and may not have met the previous 20cM total threshold criteria. In fact, these new thresholds may benefit many of us with deep colonial roots, but I’m hoping that people who have had few matches until now will be pleasantly surprised.

As soon as this change is released, I’ll be checking to see if I’ve gained or lost matches, and will report back as either additional information or results are forthcoming!

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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

The Rest of the Miller-Stutzman Story

If you watched the Katey Sagal episode of Who Do You Think You Are that aired on TLC on April 14th, you’ll recall that Katey made a couple of discoveries leading to the unveiling of her Amish heritage.  First, her ancestor in Iowa was buried in a “Dunkard” Cemetery.  Dunkard was the colloquial name for the religious denomination known as the Brethren.

I have Brethren ancestors too, an entire quarter tree full of them – my mother’s father, John Whitney Ferverda was Brethren. His mother Evaline Miller married Hiram B. Ferverda, a converted Mennonite.

The Brethren, Amish and Mennonite churches were all German based, lived in German communities, and were notorious for swapping members back and forth. All three were pietist religions, eschewing any type of violence or warfare, even for protection of yourself or your family.  In other words, those three sects were in many ways far more alike than different.

In other words, finding someone who was a Dunkard in one generation and their parents as Mennonite in the earlier generation was not a surprise. According to Amish historian, J. M. Byler, intermarriage between Amish and Brethren or Mennonite was acceptable until 1809 when it was forbidden.

So, I knew I was going to enjoy this episode.

But then, the episode got much, MUCH more interesting.

Miller Stutzman 1

Here are two screen grabs from the episode, thanks to TLC and Shedd Media. Katey’s line, going back in time, was found in Somerset, PA, then in Berk’s County, PA. an area highly known for their Amish population.

Miller Stutzman 2

Even more interesting, Peter Miller married Mary Stutzman.

That just about doubled my heart rate right there, because my Miller line, also German, also Brethren, was very closely associated with a Brethren Stutzman line.

My Miller Line

My immigrant Johann Michael Miller Jr., born in 1692, immigrated from Germany in 1727 with his sort-of step-brother Johann Jacob Stutzman, known as Jacob Stutzman.

What is a sort-of step-brother?

Johann Michael Miller’s mother died, and his father, also Johann Michael Miller, married a second time to Anna Loysa Regina. Johann Michael Miller Sr. then died, and Anna then married to Hans Jacob Stutzman in 1695.  Johann Michael Miller Jr. was only three years old at this time, so Anna was probably the only mother he had ever known.

Anna and her husband Hans Jacob Stutzman then had a son by the name of Johann Jacob Stutzman on January 1, 1706. So, technically, these two boys were not biologically related, but given that they immigrated together and were found together throughout their lives, it’s very likely that Anna Loysa Regina Miller Stutzman simply continued to raise Johann Michael Miller Jr., her step-son, after his father’s death and the boys were raised as brothers, even though they were 14 years apart.

Johann Michael Miller Jr. married Suzanna Berchtol in Germany, and in 1727, immigrated with his family, which included at least son Philip Jacob Miller, to the colonies – along with his sort-of step-brother Johann Jacob Stutzman

Johann Michael Miller and Suzanna Berchtol had a son the year after their marriage, Hans (probably Johann) Peter Mueller, baptized January 19, 1715 in Konken, Germany. We don’t know much about Peter except that on at least one occasion, Philip Jacob Miller’s brother, John, who died in Washington County, MD in 1794 was referred to as Johann Peter Miller in one document, but only one document of many.

Was that John the same Hans Peter that was born in 1715? It seems rather unlikely since he was never otherwise called Peter, but it’s possible.

So, we have a (possible) lost brother, Johann Peter Miller who was associated with the Stutzman family.  Now, in Berks County, we find a Peter Miller married to a Stutzman wife.

What are the chances of this being all circumstantial?

Slim to none, right? Stutzman is not a common name, even though Miller is.  And the two families being found together again, and intermarried is certainly suggestive of some continuity.  Right?

Clearly, the Peter Miller on Katey’s chart born in 1756 is not the SAME Peter Miller born in 1715 in Germany, but he could clearly be a descendent, either a son or possibly a grandson.

The program did not follow Peter Miller any further, but instead switched to the Stutzman line because it led to the Hochstetler line which was the focus of the rest of the program.

Mary Stutzman was the daughter of Christian Stutzman, born about 1732, and Barbara Hochstetler. Christian Stutzman could have been the son of Jacob Stutzman or perhaps even a younger half-sibling or uncle.

Had I by any chance found my missing Peter Miller, or at least his descendant, associated with the Stutzman family? It would make perfect sense.

With two family connections in Pennsylvania, plus the pacifist religion – and a very unusual name like Stutzman – how could this NOT be the same family group?

Well, hold tight, because we’re going to find out!

I was so very excited!

Let’s Start Digging

Since Stutzman isn’t my direct line, I do have some references, but not a lot, so I began on the internet where I discovered that Christian, at least by some, is attributed to be the brother of Johann Jacob Stutzman, the “step-brother” of Johann Michael Miller Jr..

If Anna was 20 in 1695 when she married Jacob Stutzman, as her second marriage, she would have been 57 in 1732 when Christian Stutzman was born. Well, there’s the first big red flag.

The next problem is that Peter Miller is attributed to John Miller and Magdalena Lehman, and that John Miller would have been the age to be a sibling to my Johann Michael Miller Jr.  This John Miller, known as “Indian John” was also wounded in the same raid where Katey Sagal’s Hochstetler family was taken captive.

Miller Stutzman 3

The next problem is that Indian John is attributed to Christian Daniel Miller, born in Bern Switzerland. Hmm….if this is accurate, this is clearly not my Miller family – although my Miller’s did come from near Bern – so they could be the same family, just a generation or two further back in time.  But regardless, not my lost Hans Peter Miller’s son.

Well, crumb.

Miller Stutzman 4

I’m always skeptical of trees, anyplace, so I wanted more proof than this.

I decided to take a look at the Miller DNA project at Family Tree DNA and see if there was any enlightenment there.  At the top of the project page, my Johann Michael Miller line is shown. At the bottom of the page, the John Miller who married Magdalena Lehman is shown. You can click to enlarge.

Miller Stutzman 5 cropMiller Stutzman 5-2 crop

While they do share the same halogroup, they are definately not matches to each other, as you can see below, so they are definitely NOT the same Miller line.

Miller Stutzman 5 crop STRsMiller Stutzman 5-2 crop STR

Double crumb.

Ok, well, maybe the Stutzman line is the same. While it’s not my direct line, it’s still an interesting part of my Johann Michael Miller’s life, so let’s take a look at what we find.

Stutzman

Stutzman was more difficult.

Ancestry trees showed a plethora of information, with some trees showing Jacob and Christian as full brothers, but we’ve already shown that’s nigh on impossible due to the age of Anna.

They could, however, be paternal half brothers or otherwise related.

The Stutzman project at Family Tree DNA seems to be abandoned and shows no project results. Harumph.  (If there is someone who would like to adopt the Stutzman DNA project at Family Tree DNA, which is quite small (4 members), it needs an administrator.)

So I turned to YSearch, with the hope that some of the Stutzman clan had uploaded results there.

Miller Stutzman 6

Indeed they had. Three entries – and two of those entries appear to be the lines we’re seeking.  I checked the compare box to view their results.

Miller Stutzman 7

First of all, none of the three match to each other, so these lines are definitely different. I checked my own Stutzman resource books, and the Jacob Stutzman line that Anna Regina married into is reported to be from Erlenbach, Switzerland.  In this case, that would be equivalent to the first entry, user ID V85YJ.

Miller Stutzman 8

Sure enough, they had uploaded a Gedcom file and I verified that indeed, this is the Jacob line that was the sort-of step-brother to Johann Michael Miller.

Miller Stutzman 9

The other entry, VZJYF is the is the Christian Stutzman line from Berks County, PA, whose daughter married Peter Miller.

Miller Stutzman 10

By running the Genetic Distance report, I verify that at 12 markers, which is all the further kit V85YJ tested, they have a genetic distance of 6, which very clearly indicates they are NOT a match.

Well, triple crumb.

Now, you could also say we need another sample from each of these two Stutzman lines, through a different son to assure that no undocumented adoptions have occurred – and you would be right of course.

However, without that additional information, it looks like these are different lines, just like the Miller line was.

Summary

I’m sure that it was assumptions just like this, before DNA testing was available, that caused people to jump to incorrect conclusions.

After all, what ARE the chances that both a Miller and a Stutzman would be found in a close family situation, not terribly distant, in a minority Pietist German religion in colonial America, and not be related? I don’t know the mathematical odds, but I can tell you that DNA confirms that whatever those odds are, they don’t matter.  Of course, this is also why definitive proof of a relationship between the two families could never be found – it wasn’t there to BE found.  The only facts we have are the DNA tests.

The DNA facts confirm that neither the Peter Miller nor the Christian Stutzman family from Berks and Somerset County, PA are the same family as the Johann Michael Miller and Jacob Stutzman family from York and Cumberland County, PA and then Frederick/Washiongton County, Maryland.

Three strikes and I’m out, but I am actually very glad to put this decades long question for both of these family groups to rest once and for all.  Bravo DNA testers, projects at Family Tree DNA and YSearch – all three critical to answering this question.

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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

Concepts – CentiMorgans, SNPs and Pickin’ Crab

In autosomal DNA testing, you’ll see the terms centiMorgans, represented as cMs and SNPs, which stands for single nucleotide polymorphism, combined.

These are two terms that are used to discuss thresholds and measurements of matching amounts of autosomal DNA segments.

These two terms, relative to autosomal DNA, are two parts of a whole, kind of like the left and right hand.

CentiMorgans are units of recombination used to measure genetic distance. You can read a scientific definition here.

For our conceptual purposes, think of centiMorgans as lines on a football field. They represent distance.

football fabric 2

SNPs are locations that are compared to each other to see if mutations have occurred.  Think of them as addresses on a street where an expected value occurs. If values at that address are different, then they don’t match.  If they are the same, then they do match.  For autosomal DNA matching, we look for long runs of SNPs to match between two people to confirm a common ancestor.

Think of SNPs as blades of grass growing between the lines on the football field.  In some areas, especially in my yard, there will be many fewer blades of grass between those lines than there would be on either a well-maintained football field, or maybe a manicured golf course.  You can think of the lighter green bands as sparse growth and darker green bands as dense growth.

If the distance between 2 marks on the football field is 5cM and there are 550 blades of grass growing there, you’ll be a match to another person if all of your blades of grass between those 2 lines match if the match threshold was 5cM and 500 SNPs.

So, for purposes of autosomal DNA, the combination of distance, centiMorgans, and the number of SNPs within that distance measurement determines if someone is considered a match to you. In other words, if the match is over the threshold as compared to your DNA, meaning the match is deemed to be relevant by the party setting the threshold.  Think of track and field hurdles.  To get to the end (match), you have to get over all of the hurdles!

hurdles

By Ragnar Singsaas – Exxon Mobil ÅF Golden League Bislett Games 2008, CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=5288962

For example, a threshold of 7 cM and 700 SNPs means that anyone who matches you OVER BOTH of these thresholds will be displayed as a match.  So centiMorgans and SNPs work together to assure valid matches.

Thresholds

These two numbers, cMs and SNPs, are used in conjunction with each other. Why?  Because the distribution of SNPs within cM boundaries is not uniform.  Some areas of the human genome have concentrations of SNPs, and some areas are known as “SNP deserts.”  So distance alone is not the only relevant factor.  How many blades of grass growing between the lines matters.

Each of the vendors selects a default threshold that they feel will give you the best mix of not too many false positives, meaning matches that are identical by chance, and not too many false negatives, meaning people who do actually match you genealogically that are eliminated by small amounts of matching DNA. Unfortunately, there is no line in the sand, so no matter where the vendor sets that threshold, you’re probably going to miss something in either or both directions.  It’s the nature of the beast.

Company Min cMs Min SNPs Comment
Family Tree DNA 7cM for any one segment + 20cM total 500 After the initial match, you can view down to 6 cM and 500 SNPs to people you match
23andMe 7cM 700
Ancestry 8cM after Timber and associated phasing routines Unknown Timber population based phasing removes matches they determine to be “too matchy” or population based
GedMatch User selectable – default is 7 User selectable – default is 700

2022 Update: MyHeritage began offering DNA testing and matching after this original article was published. Matches must have at least one 8 cM matching segment, but they show additional segments to 6 cM. There is no specified number of SNPs. Note that their imputation calculations sometimes cause the reported number of cM to be larger than for the same two people at other vendors.

As you might guess, there many opinions about the optimum threshold combinations to use – just about as many opinions as people!

These are important values, because the combined size of those matches to an individual allows you to roughly estimate the relationship range to the person you match.

As a general rule, the vendors do a relatively good job, with some exceptions that I’ve covered elsewhere and amount to beating a dead horse (Ancestry’s Timber, no chromosome browser). Of course, one of the big draws of GedMatch is that you can set your own cM and SNP matching thresholds.

Having said that, if you come from an endogamous population, you may want to raise your threshold to 10cM or even higher, depending on what you’re trying to accomplish

Effectively Using cMs and SNPs

Your personal goals have a lot to do with the thresholds you’ll want to select.

If you are new at genetic genealogy, you will first want to pursue your best matches, meaning the highest number of matching centiMorgans/SNPs, because they will be the low-hanging fruit and the easiest matches to connect genealogically. Said another way, you’ll match your closer relatives on bigger chunks of DNA, so concentrate on those first.  Successes are encouraging and rewarding!

Your match to a second cousin, for example, will have a significant amount of shared DNA, and second cousins share common great-grandparents – 2 of 8 people in that generation on your tree – so relatively easy to identify – as these things go.

The chart below shows the expected percentage of shared DNA in a given match pair, in this case, first and second cousins with a first-cousin-once-removed thrown in for good measure. Also shown is the expected amount of shared centiMorgans for the given relationship, the average amount of shared DNA from a crowd-sourced project titled The Shared cM Project by Blaine Bettinger, and the range of shared DNA found in that same project.

A pedigree chart of my family members fitting those categories is shown below, plus the actual amount of shared cMs of DNA to the right.

shared cM table

The chart below shows my DNA matches to my first-cousin-once-removed (1C1R), Cheryl.

Since we do match at Family Tree DNA above the match threshold, I can view all of my matching segments to Cheryl down to 1cM and 500 SNPs.

Cheryl chart

Just as a matter of interest, I’ve color coded the cM segments:

  • >10 cM = green
  • 7-10 cM = yellow
  • <7 = red

This means that if these were the largest matching segments, you would or would not be able to see them at the various thresholds of 7 and 10 cM.

If the matching threshold is at the default of 7cM, the green and yellow segments would be displayed.

If the matching threshold was set at 10, only the green cM segments are going to be shown.

At Family Tree DNA, you can select various threshold display options when using the chromosome browser tool, but not for initial matching. In other words, you have to match at their default threshold before you can see your smaller segments or alter your threshold display.

Some people want to see all of their DNA that matches, and some only want to see the large and compelling pieces, those green segments.  Neither choice is wrong, simply a matter of personal preference and individual goals.

The “large and compelling” part of that statement brings me back to why you’re participating in genetic genealogy in the first place, those individual goals.  The larger segments are going to lead to common ancestors who are generally easier to find and identify, unless you have an unidentified parent or a misattributed parental event.

You would never start with smaller segments in terms of matching, but that does not mean those smaller segments are never useful.  In fact, after you’ve managed to analyze all of your low hanging fruit, and you’re ready to research or concentrate on those ugly brick walls, groupings of those smaller segments in descendants may just be your lifesaver.

Surviving Phasing

However, now I’m curious. How many of those smaller segments do stand up to the test of parental phasing, meaning they match both me and my parent?  If my match (Cheryl) matches both me and my parent, then Cheryl does not match me by chance on that segment, so the match is genealogical in nature, the matching DNA proven to have descended to me from my mother.

Let’s see.

Cheryl Mom me chart

In order to phase my results with Cheryl against my mother, I copied Mother’s results into the same spreadsheet, above, color coding our rows so you can see them easier. “Cheryl matching Mom” rows are apricot and “Cheryl matching me” rows are yellow.

You can see that in some cases, like the first two rows, the two rows are identical which means I inherited all of Mom’s DNA in that segment and Cheryl inherited the same segment from her father, matching both Mom and me.

In other cases, I inherited part of Mom’s DNA on a particular segment.  I could also have inherited none of a particular segment.

In fact, of the 27 segments where I match Mom on any part of the segment, I match her on the entire segment 18 times, or 66.6% and on part of the segment 9 times, or 33.3%.

I left the color coding in the cM column the same as it was before, in my rows, to indicate small, medium and large segments. The small segments are red, which would be the most likely NOT to phase with my mother, in other words, the most likely to be Identical by Chance, not descent.  If Cheryl and I are Identical by Chance on these segments, it means that the reason I’m matching Cheryl is NOT because I inherited that chunk of DNA from mother. If Mom and I both match Cheryl, then Cheryl and I are Identical by Descent, meaning I inherited that piece of DNA from my mother, so the match is not because Cheryl’s DNA is randomly matching that of both of my parents.

In the spreadsheet below, I removed mother’s rows to eliminate clutter, but I color-coded mine. The rows that show red in the CHR and SNP columns BOTH are rows that did NOT phase with my mother, meaning these matches were indeed identical to Cheryl by chance.  The rows that are red ONLY in the cM column (and not in the CHR column) are small segments that DID phase with my mother, so those are identical by descent (IBD).

Cheryl Me phased chart

Here’s the interesting part.

  • All of the large segments, 10cM and over passed phasing. They are legitimate IBD matches.
  • One of 2 of the medium cM matches passed phasing.
  • Of the 15 smaller segments, ranging in size from 1.38 cM to 6.14 cM, more than half, 8, passed phasing. Seven did not. The smallest segment to pass phasing was 1.38 cM. I suspect that part of the reason that the smaller cM segments are passing phasing is that the SNP threshold is held steady at 500 SNPs. In another (unpublished) study, dropping the SNP threshold below 500 results in a dramatic increase in matches (roughly fourfold) and a very small percentage of those matches phase with parents.

Small Segments Guidelines

There has been a lot of spirited debate about the usage, or not, of small segments, so I’m going to provide some guidelines.  Let me preface this by saying that none of this is worth getting your knickers in a knot, so please don’t.  If you don’t want to include or utilize small segments, then just don’t.

  • What is and is not a small segment can vary depending on who you are talking to and the context of the conversation.
  • Small segments CAN and do survive parental phasing, as shown above.
  • Small segments CAN be triangulated to a particular ancestor. Triangulated in this sense means that this segment is found in the descendants of a group of people (3 or more) proven to descend from the same ancestor AND who all match each other on the same segment.
  • Not all small segments can be triangulated to a common ancestor.  But then again, the same can be said for larger segments too.  It’s more difficult and unlikely to be successful with smaller segments unless you are starting with a group of people who descend from a common ancestor and are looking for “ancestral DNA.”
  • Small segments, even after triangulation, can be found matching a different lineage. This is an indicator that while the descendants of the first group share this DNA segment from a specific ancestor, it may also be prevalent in a population in general, which would cause the same segment to show up matching in a second lineage from the same region as well. I have an example where my Acadian line also matches a different German line on a particular segment – which really isn’t surprising given the geography and history of Germany and France.
  • Small segments without the benefit of other tools such as parental phasing, triangulation and match groups are, at this time, a waste of time genealogically. This may not always be the case.
  • Never start with small segments.
  • Never draw conclusions from small segments alone, meaning without corroborating evidence.
  • Use small segments only in context of a combination of parental phasing, triangulation and match groups.
  • Just because you match a group of people, out of context, on a segment (small or otherwise) doesn’t mean that you share a common ancestor. The smaller the segment, the more likely it is to be either IBC or IBP. Situations where the DNA is exactly the same from both parents, meaning everyone has all As in that location, for example, are called runs of homozygosity and the smaller the segment, the more likely you are to encounter ROH segments which appear as phased matches.  Yes, another cruel joke of nature.

As a proof point relative to how deceptive small segment matching out of context can be, I ran my kit against my friend who is unquestionably 100% Jewish. I have no Jewish ancestry.  At 7cM/700 SNPs we have no matches, at 3cM/300SNPs we have 7 matching segments.

Me to Jewish match

However, matching this individual to my phased parents, none of these segments match both me and either one of my phased parent. Phased parent kits, at GEDMatch are kits reflecting the half of my parents DNA I received from that parent.  If you have one or both parents who have tested, you can create phased kits with instructions from this article.

Lowering the match threshold even further to 100 SNPs and 1cM, my Jewish friend and I match on a whopping 714 tiny matching segments, over 1100 cM total, but all very small pieces of DNA. Because of the absolute known 100% Jewish heritage of my friend, and my known non-Jewish heritage, these matches must be either IBC, identical by chance or perhaps some small segments of IBP, identical by population from a very long time ago when both of our ancestors lived in the Middle East, meaning thousands of years ago.  Bottom line, they are not genealogically relevant to either of us.  I repeated this same experiment with someone that is 100% Asian, with the same type of results.  You will match everyone at this threshold, including ancient DNA matches tens of thousands of years old.

The message here is that you can work from the “top down” with small segments, meaning in a known relationship situation like with my cousin and other relatives, but you cannot work from the bottom up with small segments as you have no way to differentiate the wheat from the chaff.

In the Crumley study, there are groups of small segments (greater than 3cM/300SNPs) that persist in multiple descendants of James Crumley, born in 1712.  In this case, because you can separate the wheat from the chaff with more than 50 participants, others who triangulate with those small segments and match the group of Crumley descendants may well share a common ancestor at some point in time, especially if they can phase with their parents on those segments to prove the match is not IBC.

  • Remember, your match on any segment to one person can be IBD, meaning you have identified the common ancestor, your match to another person on that same segment IBC, and yet to a third person, IBP where your match survives generational phasing, but you may never find the common ancestor due to the age of the segment or endogamy.
  • When utilizing small segments, I generally don’t drop the SNP threshold below 500, as the number of matches increases exponentially and the valid matches decrease proportionately as well. I’ll be publishing more on this shortly.
  • I do fully believe, within this set of cautionary criteria, that small segments can be useful. I also believe that small segments can be very easily misinterpreted. The use of matching segments has a lot to do with combining different pieces of evidence to build confidence in what the “match” is telling you. I wrote about the Autosomal DNA Matching Confidence Spectrum here.
  • Small segments should only be utilized after one has a good grasp of how genetic genealogy works and by utilizing the tools available to restrict those segments to genealogically descended DNA. In other words, small segments are for the advanced user. However, maintain those small segment groupings and triangulations in your spreadsheet, because when you have the level of experience needed to work with those small segments, they’ll be available for you to work with.  You may discover that most of your DNA triangulates by using large segments and you don’t need to utilize those small segments at all.
  • If you send me a list of matches from GedMatch with the cM set to 1 and the SNPs set to 100 and ask me what I think, I would simply to refer you to this article. But if I did reply, I would tell you that unless you have corroborating evidence, I think you’re wasting your time, but it’s your time and you’re welcome to do what you want with it. Life is about learning.
  • If you tell me you’ve drawn any conclusions from those types of matches (1cM and 100 SNPs), I’m going to be inconvincible without other tools such as genealogical proof,  parental phasing and triangulation groups that prove the segments to be valid to a specific ancestor for the people about whom you’re drawing conclusions. I might even suggest you look at the raw data in those segments to see if you’re dealing with runs of homozygosity.

Netting It Out

The net-net of this is that small segments can be useful, but it takes a lot more work because of the inherent questionable nature of small segment matches. This goes along with that old adage of “extraordinary claims require extraordinary evidence.”  Just be ready to roll up your shirt sleeves, because small segments are a lot more work!

Now having said all of that, I very much encourage continuing to triangulate your small segments and pay attention to them. You may notice patterns very relevant to your own genealogy, or you may learn that those patterns were somewhat deceptive – like IBD that turned into IBP.  Still useful and interesting, but perhaps not as originally intended.

Without continuing and ongoing research, we’ll never learn how to best utilize small segments nor develop the tools and techniques to sort the wheat from the chaff. Just be appropriately paranoid about conclusions based on small segments, especially small segments alone, and the smaller the segment, the more paranoid you should be!

There is a very big difference between working with small segments along with larger matching data and genealogy, which I encourage, and drawing conclusions based on small segment data alone and out of context, which I highly discourage.

Let’s hope that all of your matches come with large segments and matching ancestors in their trees!!!

Pickin’ Crab

You know, working with different cM levels and SNPs, especially as segments get smaller and more challenging, I’m reminded of “picking crab” at a good old North Carolina crab bake. You would never start out with a crab bake for breakfast.  You kind of have to work your way up to pickin’ crab – the same as small segments.  And you never pick crab alone. It’s a group activity, shared with friends and kin.  So is genetic genealogy.

You’ll need lessons, at first, in how to “pick crab” effectively. There’s a particular technique to it.  Friends teach friends.  You’ll find cousins you didn’t know you had, like Dawn in the brown shirt below, giving lessons to Anne.

Dawn lessons

A little practice and you’ll get it.

Just because it’s not easy doesn’t mean it’s not productive, especially when everyone works together!  And the results are “very good,” if you just have patience and work through the process.  If you decide that you “can’t pick crab,” then you’re right, you can’t pick crab, and you’ll just have to go hungry and miss out on all the fun!  Don’t let that happen.  Hint – sometimes the fun is in the pickin’!

Here’s hoping you can solve all of your brick walls with large cMs and large SNP counts, and if not, here’s hoping you enjoy “picking crab” with a group of friends and cousins and who will contribute to the ongoing research.

Pickin’ crab, or working on identifying difficult ancestors is always better when collaborating with others! Find cousins and fellow collaborators and enjoy!!! Genetic genealogy is not something you can do alone – it’s dependent on sharing.

crab pickin

Sometimes it’s as much about the friends and cousins you meet on the journey and the adventures along the way as it is about the answer at the end.

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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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Genealogy Research

Family Tree DNA and GedMatch Dustup

crystal ball

The Crystal Ball by John William Waterhouse

It’s really unfortunate that a “conversation” that should have been private has gone public, but it has and there is no closing the barn door after the cow has left.

Genetic genealogy, and genealogy, is a highly emotional topic. Many of us feel very strongly, myself included.  After all, it’s our ancestors, flesh and blood we’re talking about.

I know that many people look to my blog for direction and commentary on these matters, so I feel obligated to say something.

For those who are not aware, in the past few days, GedMatch has stopped accepting Family Tree DNA autosomal data file uploads.  Circumstances and timing of events beyond that are murky at best and involve a bit of a “he said – she said” type of situation.  So, I’m not going to fuel any flames by reposting anything because I can’t verify the timing or order since I was not online when it occurred.  If you are a GedMatch user, you can see their announcement and commentary, which is what sparked the public portion of this issue, after signing on to your account and you can see Family Tree DNA’s responses and commentary to GedMatch’s posting on their Facebook page.

In summary, Family Tree DNA became aware of a potential security issue relative to their customer information at GedMatch and reached out to GedMatch to resolve the issue.  From that point forward, what actually happened is unclear, is only known to the “people in the room” at the time and judging from the outcome, may well involve some confusion or misinterpretation.  In any event, the resolution did not occur and GedMatch posted that they were no longer accepting uploads from Family Tree DNA.  (For the record, I am not one of the “people in the room,” so I, like you, don’t know.)

Unfortunately, this announcement fueled rampant speculation and outrage online and does nothing to resolve the potential problem for people whose kits are already being utilized on GedMatch.

So, here’s what I can and can’t tell you, and why.

What I can tell you:

This is not an issue with an individual having or sharing their DNA files.  You can still download your autosomal DNA files from Family Tree DNA.  This is not about paternalism or someone telling you what you should or shouldn’t do.  This is not about the DNA itself.  This is about security and privacy.  Period.

What I can’t tell you:

Having worked in a technology industry for years, I cannot responsibly tell you “the problem,” at least not until it’s resolved, or why it’s a potential problem, because it would then become open season for people to attempt to exploit the potential problem. And yes, they would try, in a heartbeat – just because.  This is why neither GedMatch nor Family Tree DNA have elaborated on this part of the issue.  They are being responsible, but unfortunately, their intentional and responsible ambiguity is feeding rather wild speculation in the larger community – and none of it positive.

No Crystal Ball

No one has a crystal ball. What is perfectly fine one day may not be the next due to changes beyond any one individual or firm’s control.  What is completely secure under one circumstance may not be when you add another vendor or service into the mix.  It happens continually in our high-tech world and it’s not intentional or due to negligence on anyone’s part.  Sometimes issues or potential issues don’t become evident immediately.  When they do, it’s incumbent upon the involved parties to resolve the problem or potential problem.  Where there is more than one party involved, it makes the situation inherently more difficult and calls for cooperation, which is where we are today.

What To Do

The good thing about social media is that it makes communications immediate. The bad thing about social media is that it’s very easy for misinformation and speculation to run like wildfire and to quickly take on the context of fact, fuel everyone’s emotions, and for a mob mentality to take over.  Don’t believe me?  Just look at the political rhetoric and associated “spin” this year, regardless of your position.

Here’s the bottom line. No one really knows what is going on.  Even the parties on both sides really only know “their” side and there are two sides to every story.  For outsiders, which means all of us, to jump into the fray is like the distant family taking sides in a family squabble.  Almost everyone has the information wrong, or only part of the information, but everyone has a very strong opinion based on what they think they know.  Agendas come into play and it gets ugly, very ugly, very quickly, which is again, where we are today.  I have been utterly horrified at some of the vitriol I’ve seen online.

The people who have figured out the problem, and there are a few, generally technology professionals, are doing what they should do and keeping their mouths shut. Let me translate this – they are more concerned for our security and well-being than the perception of the online community that they were “right.”   To those people, from all of us, thank you for your professionalism.

The other bad thing about social media is that even when the problem goes away, the hard feelings generated by speculation and misinformation don’t. The damage done by jumping to early, incorrect conclusions and fueling vilifying social rhetoric may never be undone either.  Damaging, or attempting to damage either party socially or otherwise is not beneficial to a resolution and may actually hinder the resolution that we want to see.  This ultimately damages all of genetic genealogy.

What I’m saying is this: We can’t do anything to actively “help” but we can certainly negatively impact the situation.  We really don’t know what is going on, and as such, should not be speculating or arriving at premature conclusions.  Rampant speculation is not helpful, is inaccurate and has the potential to make the situation much worse.  As a community, we need to give these firms some time and space without fueling the emotional flames which may indeed make their negotiations or communications, or whatever needs to happen, more difficult.

So, in the vernacular of my parenting, I’m asking us all to calm down, take a deep breath and a personal timeout:)  Let’s find something else fun and productive to do for a few days and leave GedMatch and Family Tree DNA alone, relative to this topic.  They have both stated that they want to resolve this situation.  Both of the companies are listening to us, are well-intentioned and engaged, which is far more than we receive from other companies in this field.  What more can we ask at this point?

I have every confidence that both of these firms are committed to genetic genealogists and want to resolve this issue – and that they will, given some time and space out from under the microscope and spotlight.  I’m sure they understand how the community feels regarding this issue – so at this point there is no need to say any more unless the issue isn’t resolved.

In this same vein, I apologize to my sane and rational commenters, but the comments portion of this blog posting is closed. I do not want to add to the online rhetorical issue.  If you have something to say to either party, then send it, in a polite and civil manner that would not embarrass your grandmother, directly to the parties involved.

Update 3-19-2016 – A joint announcement from GedMatch and Family Tree DNA this afternoon:

Family Tree DNA and GEDmatch jointly announce that we are in serious conversations regarding issues that have resulted in GEDmatch discontinuing uploads of FTDNA data. Both companies recognize the importance of these talks to their customers and are committed to quickly resolve differences. We regret any inconvenience that may have been caused and assure our users that our primary focus and efforts are geared toward your benefit.

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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

Ethnicity Testing – A Conundrum

Ethnicity results from DNA testing.  Fascinating.  Intriguing.  Frustrating.  Exciting.  Fun. Challenging.  Mysterious.  Enlightening.  And sometimes wrong.  These descriptions all fit.  Welcome to your personal conundrum!  The riddle of you!  If you’d like to understand why your ethnicity results might not have been what you expected, read on!

Today, about 50% of the people taking autosomal DNA tests purchase them for the ethnicity results. Ironically, that’s the least reliable aspect of DNA testing – but apparently somebody’s ad campaigns have been very effective.  After all, humans are curious creatures and inquiring minds want to know.  Who am I anyway?

I think a lot of people who aren’t necessarily interested in genealogy per se are interested in discovering their ethnic mix – and maybe for some it will be a doorway to more traditional genealogy because it will fan the flame of curiosity.

Given the increase in testing for ethnicity alone, I’m seeing a huge increase in people who are both confused by and disappointed in their results. And of course, there are a few who are thrilled, trading their lederhosen for a kilt because of their new discovery.  To put it gently, they might be a little premature in their celebration.

A lot of whether you’re happy or unhappy has to do with why you tested, your experience level and your expectations.

So, for all of you who could write an e-mail similar to this one that I received – this article is for you:

“I received my ethnicity results and I’m surprised and confused. I’m half German yet my ethnicity shows I’m from the British Isles and Scandinavia.  Then I tested my parents and their results don’t even resemble mine, nor are they accurate.  I should be roughly half of what they are, and based on the ethnicity report, it looks like I’m totally unrelated.  I realize my ethnicity is not just a matter of dividing my parents results by half, but we’re not even in the same countries.  How can I be from where they aren’t? How can I have significantly more, almost double, the Scandinavian DNA that they do combined?  And yes, I match them autosomally as a child so there is no question of paternity.”

Do not, and I repeat, DO NOT, trade in your lederhosen for a kilt just yet.

lederhosen kilt

Lederhosen – By The original uploader was Aquajazz at German Wikipedia – Transferred from de.wikipedia to Commons., CC BY-SA 2.0 de, https://commons.wikimedia.org/w/index.php?curid=2746036 Kilt – By Jongleur100 – Own work, Public Domain, https://commons.wikimedia.org/w/index.php?curid=7917180

This technology is not really ripe yet for that level of confidence except perhaps at the continent level and for people with Jewish heritage.

  1. In determining majority ethnicity at the continent level, these tests are quite accurate, but then you can determine the same thing by looking in the mirror.  I’m primarily of European heritage.  I can see that easily and don’t need a DNA test for that information.
  2. When comparing between continental ethnicity, meaning sorting African from European from Asian from Native American, these tests are relatively accurate, meaning there is sometimes a little bit of overlap, but not much.  I’m between 4 and 5% Native American and African – which I can’t see in the mirror – but some of these tests can.
  3. When dealing with intra-continent ethnicity – meaning Europe in particular, comparing one country or region to another, these tests are not reliable and in some cases, appear to be outright wrong. The exception here is Ashkenazi Jewish results which are generally quite accurate, especially at higher levels.

There are times when you seem to have too much of a particular ethnicity, and times when you seem to have too little.

Aside from the obvious adoption, misattributed parent or the oral history simply being wrong, the next question is why.

Ok, Why?

So glad you asked!

Part of why has to do with actual population mixing. Think about the history of Europe.  In fact, let’s just look at Germany.  Wiki provides a nice summary timeline.  Take a look, because you’ll see that the overarching theme is warfare and instability.  The borders changed, the rulers changed, invasions happened, and most importantly, the population changed.

Let’s just look at one event. The Thirty Years War (1618-1648) devastated the population, wiped out large portions of the countryside entirely, to the point that after its conclusion, parts of Germany were entirely depopulated for years.  The rulers invited people from other parts of Europe to come, settle and farm.  And they did just that.  Hear those words, other parts of Europe.

My ancestors found in the later 1600s along the Rhine near Speyer and Mannheim were some of those settlers, from Switzerland. Where were they from before Switzerland, before records?  We don’t know and we wouldn’t even know that much were it not for the early church records.

So, who are the Germans?

Who or where is the reference population that you would use to represent Germans?

If you match against a “German” population today, what does that mean, exactly? Who are you really matching?

Now think about who settled the British Isles.

Where did those people come from and who were they?

Well, the Anglo-Saxon people were comprised of Germanic tribes, the Angles and the Saxons.  Is it any wonder that if your heritage is German you’re going to be matching some people from the British Isles and vice versa?

Anglo-Saxons weren’t the only people who settled in the British Isles. There were Vikings from Scandinavia and the Normans from France who were themselves “Norsemen” aka from the same stock as the Vikings.

See the swirl and the admixture? Is there any wonder that European intracontinental admixture is so confusing and perplexing today?

Reference Populations

The second challenge is obtaining valid and adequate reference populations.

Each company that offers ethnicity tests assembles a group of reference populations against which they compare your results to put you into a bucket or buckets.

Except, it’s not quite that easy.

When comparing highly disparate populations, meaning those whose common ancestor was tens of thousands of years ago, you can find significant differences in their DNA. Think the four major continental areas here – Africa, Europe, Asia, the Americas.

Major, unquestionable differences are much easier to discern and interpret.

However, within population groups, think Europe here, it is much more difficult.

To begin with, we don’t have much (if any) ancient DNA to compare to. So we don’t know what the Germanic, French, Norwegian, Scottish or Italian populations looked like in, let’s say, the year 1000.

We don’t know what they looked like in the year 500, or 2000BC either and based on what we do know about warfare and the movement of people within Europe, those populations in the same location could genetically look entirely different at different points in history. Think before and after The 30 Years War.

population admixture

By User:MapMaster – Own work, CC BY-SA 2.5, https://commons.wikimedia.org/w/index.php?curid=1234669

As an example, consider the population of Hungary and the Slavic portion of Germany before and after the Mongol invasion of Europe in the 13th century and Hun invasions that occurred between the 1st and 5th centuries.  The invaders DNA didn’t go away, it became part of the local population and we find it in descendants today.  But how do we know it’s Hunnic and not “German,” whatever German used to be, or Hungarian, or Norse?

That’s what we do know.

Now, think about how much we don’t know. There is no reason to believe the admixture and intermixing of populations on any other continent that was inhabited was any different.  People will be people.  They have wars, they migrate, they fight with each other and they produce offspring.

We are one big mixing bowl.

Software

A third challenge faced in determining ethnicity is how to calculate and interpret matching.

Population based matching is what is known as “best fit.”  This means that with few exceptions, such as some D9S919 values (Native American), the Duffy Null Allele (African) and Neanderthal not being found in African populations, all of the DNA sequences used for ethnicity matching are found in almost all populations worldwide, just at differing frequencies.

So assigning a specific “ethnicity” to you is a matter of finding the best fit – in other words which population you match at the highest frequency for the combined segments being measured.

Let’s say that the company you’re using has 50 people from each “grouping” that they are using for buckets.

A bucket is something you’ll be assigned to. Buckets sometimes resemble modern-day countries, but most often the testing companies try to be less boundary aligned and more population group aligned – like British Isles, or Eastern European, for example.

Ethnic regions

How does one decide which “country” goes where? That’s up to the company involved.  As a consumer, you need to read what the company publishes about their reference populations and their bucket assignment methodology.

ethnic country

For example, one company groups the Czech Republic and Poland in with Western Europe and another groups them primarily with Eastern Europe but partly in Western Europe and a third puts Poland in Eastern Europe and doesn’t say where they group The Czech Republic. None of these are inherently right are wrong – just understand that they are different and you’re not necessarily comparing apples to apples.

Two Strands of DNA

In the past, we’ve discussed the fact that you have two strands of DNA and they don’t come with a Mom side, a Dad side, no zipper and no instructions that tell you which is Mom’s and which is Dad’s.  Not fair – but it’s what we have to work with.

When you match someone because your DNA is zigzagging back and forth between Mom’s and Dad’s DNA sides, that’s called identical by chance.

It’s certainly possible that the same thing can happen in population genetics – where two strands when combined “look like” and match to a population reference sample, by chance.

pop ref 3

In the example above, you can see that you received all As from Mom and all Cs from Dad, and the reference population matches the As and Cs by zigzagging back and forth between your parents.  In this case, your DNA would match that particular reference population, but your parents would not.  The matching is technically accurate, it’s just that the results aren’t relevant because you match by chance and not because you have an ancestor from that reference population.

Finding The Right Bucket

Our DNA, as humans, is more than 99.% the same.  The differences are where mutations have occurred that allow population groups and individuals to look different from one another and other minor differences.  Understanding the degree of similarity makes the concept of “race” a bit outdated.

For genetic genealogy, it’s those differences we seek, both on a population level for ethnicity testing and on a personal level for identifying our ancestors based on who else our autosomal DNA matches who also has those same ancestors.

Let’s look at those differences that have occurred within population groups.

Let’s say that one particular sequence of your DNA is found in the following “bucket” groups in the following percentages:

  • Germany – 50%
  • British Isles – 25%
  • Scandinavian – 10%

What do you do with that? It’s the same DNA segment found in all of the populations.  As a company, do you assume German because it’s where the largest reference population is found?

And who are the Germans anyway?

Does all German DNA look alike? We already know the answer to that.

Are multiple ancestors contributing German ancestry from long ago, or are they German today or just a generation or two back in time?

And do you put this person in just the German bucket, or in the other buckets too, just at lower frequencies.  After all, buckets are cumulative in terms of figuring out your ethnicity.

If there isn’t a reference population, then the software of course can’t match to that population and moves to find the “next best fit.”  Keep in mind too that some of these reference populations are very small and may not represent the range of genetic diversity found within the entire region they represent.

If your ancestors are Hungarian today, they may find themselves in a bucket entirely unrelated to Hungary if a Hungarian reference population isn’t available AND/OR if a reference population is available but it’s not relevant to your ancestry from your part of Hungary.

If you’d like a contemporary example to equate to this, just think of a major American city today and the ethnic neighborhoods. In Detroit, if someone went to the ethnic Polish neighborhood and took 50 samples, would that be reflective of all of Detroit?  How about the Italian neighborhood?  The German neighborhood?  You get the drift.  None of those are reflective of Detroit, or of Michigan or even of the US.  And if you don’t KNOW that you have a biased sample, the only “matches” you’ll receive are Polish matches and you’ll have no way to understand the results in context.

Furthermore, that ethnic neighborhood 50 or 100 years earlier or later in time might not be comprised of that ethnic group at all.

Based on this example, you might be trading in your lederhosen for a pierogi or a Paczki, which are both wonderful, but entirely irrelevant to you.

paczki

Real Life Examples

Probably the best example I can think of to illustrate this phenomenon is that at least a portion of the Germanic population and the Native American population both originated in a common population in central northern Asia.  That Asiatic population migrated both to Europe to the west and eventually, to the Americas via an eastern route through Beringia.  Today, as a result of that common population foundation, some Germanic people show trace amounts of “Native American” DNA.  Is it actually from a Native American?  Clearly not, based on the fact that these people nor their ancestors have ever set foot in the Americas nor are they coastal.  However, the common genetic “signature” remains today and is occasionally detected in Germanic and eastern European people.

If you’re saying, “no, not possible,” remember for a minute that everyone in Europe carries some Neanderthal DNA from a population believed to be “extinct” now for between 25,000 and 40,000 years, depending on whose estimates you use and how you measure “extinct.”  Neanderthal aren’t extinct, they have evolved into us.  They assimilated, whether by choice or force is unknown, but the fact remains that they did because they are a forever part of Europeans, most Asians and yes, Native Americans today.

Back to You

So how can you judge the relevance or accuracy of this information aside from looking in the mirror?

Because I have been a genealogist for decades now, I have an extensive pedigree chart that I can use to judge the ethnicity predictions relatively accurately. I created an “expected” set of percentages here and then compared them to my real results from the testing companies.  This paper details the process I used.  You can easily do the same thing.

Part of how happy or unhappy you will be is based on your goals and expectations for ethnicity testing. If you want a definitive black and white, 100% accurate answer, you’re probably going to be unhappy, or you’ll be happy only because you don’t know enough about the topic to know you should be unhappy.  If you test with only one company, accept their results as gospel and go merrily on your way, you’ll never know that had you tested elsewhere, you’d probably have received a somewhat different answer.

If you’re scratching your head, wondering which one is right, join the party.  Perhaps, except for obvious outliers, they are all right.

If you know your pedigree pretty well and you’re testing for general interest, then you’ll be fine because you have a measuring stick against which to evaluate the results.

I found it fun to test with all 4 vendors, meaning Family Tree DNA, 23andMe and Ancestry along with the Genographic project and compare their results.

In my case, I was specifically interesting in ascertaining minority admixture and determining which line or lines it descended from. This means both Native American and African.

You can do this too and then download your results to www.gedmatch.com and utilize their admixture utilities.

GedMatch admix menu

At GedMatch, there are several versions of various contributed admixture/ethnicity tools for you to use. The authors of these tools have in essence done the same thing the testing companies have done – compiled reference populations of their choosing and compare your results in a specific manner as determined by the software written by that author.  They all vary.  They are free.  Your mileage can and will vary too!

By comparing the results, you can clearly see the effects of including or omitting specific populations. You’ll come away wondering how they could all be measuring the same you, but it’s an incredibly eye-opening experience.

The Exceptions and Minority Ancestry

You know, there is always an exception to every rule and this is no exception to the exception rule. (Sorry, I couldn’t resist.)

By and large, the majority continental ancestry will be the most accurate, but it’s the minority ancestry many testers are seeking.  That which we cannot see in the mirror and may be obscured in written records as well, if any records existed at all.

Let me say very clearly that when you are looking for minority ancestry, the lack of that ancestry appearing in these tests does NOT prove that it doesn’t exist. You can’t prove a negative.  It may mean that it’s just too far back in time to show, or that the DNA in that bucket has “washed out” of your line, or that we just don’t recognize enough of that kind of DNA today because we need a larger reference population.  These tests will improve with time and all 3 major vendors update the results of those who tested with them when they have new releases of their ethnicity software.

Think about it – who is 100% Native American today that we can use as a reference population?  Are Native people from North and South American the same genetically?  And let’s not forget the tribes in the US do not view DNA testing favorably.  To say we have challenges understanding the genetic makeup and migrations of the Native population is an understatement – yet those are the answers so many people seek.

Aside from obtaining more reference samples, what are the challenges?

There are two factors at play.

Recombination – the “Washing Out” Factor

First, your DNA is divided in half with every generation, meaning that you will, on the average, inherit roughly half of the DNA of your ancestors.  Now in reality, half is an average and it doesn’t always work that way.  You may inherit an entire segment of an ancestor’s DNA, or none at all, instead of half.

I’ve graphed the “washing out factor” below and you can see that within a few generations, if you have only one Native or African ancestor, their DNA is found in such small percentages, assuming a 50% inheritance or recombination rate, that it won’t be found above 1% which is the threshold used by most testing companies.

Wash out factor 2

Therefore, the ethnicity of any ancestor born 7 generations ago, or before about 1780 may not be detectable.  This is why the testing companies say these tests are effective to about the rough threshold of 5 or 6 generations.  In reality, there is no line in the sand.  If you have received more than 50% of that ancestor’s DNA, or a particularly large segment, it may be detectable at further distances.  If you received less, it may be undetectable at closer distances.  It’s the roll of the DNA dice in every generation between them and you.  This is also why it’s important to test parents and other family members – they may well have received DNA that you didn’t that helps to illuminate your ancestry.

Recombination – Population Admixture – the “Keeping In” Factor

The second factor at play here is population admixture which works exactly the opposite of the “washing out” factor. It’s the “keeping in” factor.  While recombination, the “washing out” factor, removes DNA in every generation, the population admixture “keeping in” factor makes sure that ancestral DNA stays in the mix. So yes, those two natural factors are kind of working at cross purposes and you can rest assured that both are at play in your DNA at some level.  Kind of a mean trick of nature isn’t it!

The population admixture factor, known as IBP, or identical by population, happens when identical DNA is found in an entire or a large population segment – which is exactly what ethnicity software is looking for – but the problem is that when you’re measuring the expected amount of DNA in your pedigree chart, you have no idea how to allow for endogamy and population based admixture from the past.

Endogamy IBP

This example shows that both Mom and Dad have the exact same DNA, because at these locations, that’s what this endogamous population carries.  Therefore the child carries this DNA too, because there isn’t any other DNA to inherit.  The ethnicity software looks for this matching string and equates it to this particular population.

Like Neanderthal DNA, population based admixture doesn’t really divide or wash out, because it’s found in the majority of that particular population and as long as that population is marrying within itself, those segments are preserved forever and just get passed around and around – because it’s the same DNA segment and most of the population carries it.

This is why Ashkenazi Jewish people have so many autosomal matches – they all descend from a common founding population and did not marry outside of the Jewish community.  This is also why a few contemporary living people with Native American heritage match the ancient Anzick Child at levels we would expect to see in genealogically related people within a few generations.

Small amounts of admixture, especially unexpected admixture, should be taken with a grain of salt. It could be noise or in the case of someone with both Native American and Germanic or Eastern European heritage, “Native American” could actually be Germanic in terms of who you inherited that segment from.

Have unexpected small percentages of Middle Eastern ethnic results?  Remember, the Mesolithic and Neolithic farmer expansion arrived in Europe from the Middle East some 7,000 – 12,000 years ago.  If Europeans and Asians can carry Neanderthal DNA from 25,000-45,000 years ago, there is no reason why you couldn’t match a Middle Eastern population in small amounts from 3,000, 7,000 or 12,000 years ago for the same historic reasons.

The Middle East is the supreme continental mixing bowl as well, the only location worldwide where historically we see Asian, European and African DNA intermixed in the same location.

Best stated, we just don’t know why you might carry small amounts of unexplained regional ethnic DNA.  There are several possibilities that include an inadequate population reference base, an inadequate understanding of population migration, quirks in matching software, identical segments by chance, noise, or real ancient or more modern DNA from a population group of your ancestors.

Using Minority Admixture to Your Advantage

Having said that, in my case and in the cases of others who have been willing to do the work, you can sometimes track specific admixture to specific ancestors using a combination of ethnicity testing and triangulation.

You cannot do this at Ancestry because they don’t give you ANY segment information.

Family Tree DNA and 23andMe both provide you with segment information, but not for ethnicity ranges without utilizing additional tools.

The easiest approach, by far, is to download your autosomal results to GedMatch and utilize their tools to determine the segment ranges of your minority admixture segments, then utilize that information to see which of your matches on that segment also have the same minority admixture on that same chromosome segment.

I wrote a several-part series detailing how I did this, called The Autosomal Me.

Let me sum the process up thus. I expected my largest Native segments to be on my father’s side.  They weren’t.  In fact, they were from my mother’s Acadian lines, probably because endogamy maintained (“kept in”) those Native segments in that population group for generations.  Thank you endogamy, aka, IBP, identical by population.

I made this discovery by discerning that my specifically identified Native segments matched my mother’s segments, also identified as Native, in exactly the same location, so I had obviously received those Native segments from her. Continuing to compare those segments and looking at GedMatch to see which of our cousins also had a match (to us) in that region pointed me to which ancestral line the Native segment had descended from.  Mitochondrial and Y DNA testing of those Acadian lines confirmed the Native ancestors.

That’s A Lot of Work!!!

Yes, it was, but well, well worth it.

This would be a good time to mention that I couldn’t have proven those connections without the cooperation of several cousins who agreed to test along with cousins I found because they tested, combined with the Mothers of Acadia and the AmerIndian Ancestry out of Acadia projects hosted by Family Tree DNA and the tools at GedMatch.  I am forever grateful to all those people because without the sharing and cooperation that occurs, we couldn’t do genetic genealogy at all.

If you want to be amused and perhaps trade your lederhosen for a kilt, then you can just take ethnicity results at face value.  If you’re reading this article, I’m guessing you’re already questioning “face value” or have noticed “discrepancies.”

Ethnicity results do make good cocktail party conversation, especially if you’re wearing either lederhosen or a kilt.  I’m thinking you could even wear lederhosen under your kilt……

If you want to be a bit more of an educated consumer, you can compare your known genealogy to ethnicity results to judge for yourself how close to reality they might be. However, you can never really know the effects of early population movements – except you can pretty well say that if you have 25% Scandinavian – you had better have a Scandinavian grandparent.  3% Scandinavian is another matter entirely.

If you’re saying to yourself, “this is part interpretive art and part science,” you’d be right.

If you want to take a really deep dive, and you carry significantly mixed ethnicity, such that it’s quite distinct from your other ancestry – meaning the four continents once again, you can work a little harder to track your ethnic segments back in time. So, if you have a European grandparent, an Asian grandparent, an African grandparent and a Native American grandparent – not only do you have an amazing and rich genealogy – you are the most lucky genetic genealogist I know, because you’ll pretty well know if your ethnicity results are accurate and your matches will easily fall into the correct family lines!

For some of us, utilizing the results of ethnicity testing for minority admixture combined with other tools is the only prayer we will ever have of finding our non-European ancestors.  If you fall into this group, that is an extremely powerful and compelling statement and represents the holy grail of both genealogy and genetic genealogy.

Let’s Talk About Scandinavia

We’ve talked about minority admixture and cases when we have too little DNA or unexpected small segments of DNA, but sometimes we have what appears to be too much.  Often, that happens in Scandinavia, although far more often with one company than the other two.  However, in my case, we have the perfect example of an unsolvable mystery introduced by ethnicity testing and of course, it involves Scandinavia.

23andMe, Ancestry and Family Tree DNA show me at 8%, 10% and 12% Scandinavian, respectively, which is simply mystifying. That’s a lot to be “just noise.”  That amount is in the great-grandparent or third generation range at 12.5%, but I don’t have anyone that qualifies, anyplace in my pedigree chart, as far back as I can go.  I have all of my ancestors identified and three-quarters (yellow) confirmed via DNA through the 6th generation, shown below.

The unconfirmed groups (uncolored) are genealogically confirmed via church and other records, just not genetically confirmed.  They are Dutch and German, respectively, and people in those countries have not embraced genetic genealogy to the degree Americans have.

Genetically confirmed means that through triangulation, I know that I match other descendants of these ancestors on common segments.  In other words, on the yellow ancestors, here is no possibility of misattributed parentage or an adoption in that line between me and that ancestor.

Six gen both

Barbara Mehlheimer, my mitochondrial line, does have Scandinavian mitochondrial DNA matches, but even if she were 100% Scandinavian, which she isn’t because I have her birth record in Germany, that would only account for approximately 3.12% of my DNA, not 8-12%.

In order for me to carry 8-12% Scandinavian legitimately from an ancestral line, four of these ancestors would need to be 100% Scandinavian to contribute 12.5% to me today assuming a 50% recombination rate, and my mother’s percentage of Scandinavian should be about twice mine, or 24%.

My mother is only in one of the testing company data bases, because she passed away before autosomal DNA testing was widely available.  I was fortunate that her DNA had been archived at Family Tree DNA and was available for a Family Finder upgrade.

Mom’s Scandinavian results are 7%, or 8% if you add in Finland and Northern Siberia.  Clearly not twice mine, in fact, it’s less. If I received half of hers, that would be roughly 4%, leaving 8% of mine unaccounted for.  If I didn’t receive all of my “Scandinavian” from her, then the balance would have had to come from my father whose Estes side of the tree is Appalachian/Colonial American.  Even less likely that he would have carried 16% Scandinavian, assuming again, that I inherited half.  Even if I inherited all 8% of Mom’s, that still leaves me 4% short and means my father would have had approximately 8%, which is still between the great and great-great-grandfather level.  By that time, his ancestors had been in America for generations and none were Scandinavian.  Clearly, something else is going on.  Is there a Scandinavian line in the woodpile someplace?  If so, which lines are the likely candidates?

In mother’s Ferverda/Camstra/deJong/Houtsma line, which is not DNA confirmed, we have several additional generations of records procured by a professional genealogist in the Netherlands from Leeuwarden, so we know where these ancestors originated and lived for generations, and it wasn’t Scandinavia.

The Kirsch/Lemmert line also reaches back in church records several generations in Mutterstadt and Fussgoenheim, Germany.  The Drechsel line reaches back several generations in Wirbenz, Germany and the Mehlheimer line reaches back one more generation in Speichersdorf before ending in an unmarried mother giving birth and not listing the father.  Aha, you say…there he is…that rogue Scandinavian.  And yes, it could be, but in that generation, he would account for only 1.56% of my DNA, not 8-12%.

So, what can we conclude about this conundrum.

  • The Scandinavian results are NOT a function of specific Scandinavian genealogical ancestors – meaning ones in the tree who would individually contribute that level of Scandinavian heritage.  There is no Scandinavian great-grandpa or Scandinavian heritage at all, in any line, tracking back more than 6 generations.  The first “available” spot with an unknown ancestor for a Scandinavian is in the 7th generation where they would contribute 1.56% of my DNA and 3.12% of mothers.
  • The Scandinavian results could be a function of a huge amount of population intermixing in several lines, but 8-12% is an awfully high number to attribute to unknown population admixture from many generations ago.
  • The Scandinavian results could be a function of a problematic reference population being utilized by multiple companies.
  • The Scandinavian results could be identical by chance matching, possibly in addition to population admixture in ancient lines.
  • The Scandinavian results could be a function of something we don’t yet understand.
  • The Scandinavian results could be a combination of several of the above.

It’s a mystery.  It may be unraveled as the tools improve and as an industry, additional population reference samples become available or better understood.  Or, it may never be unraveled.  But one thing is for sure, it is very, very interesting!  However, I’m not trading lederhosen for anything based on this.

The Companies

I wrote a comparison of the testing companies when they introduced their second generation tools.  Not a lot has changed.  Hopefully we will see a third software generation soon.

I do recommend selecting between the main three testing companies plus National Geographic’s Genographic 2.0 products if you’re going to test for ethnicity.  Stay safe.  There are less than ethical people and companies out there looking to take advantage of people’s curiosity to learn about their heritage.

Today, 23andMe is double the price of either Family Tree DNA or Ancestry and they are having other issues as well.  However, they do sometimes pick up the smallest amounts of minority admixture.

Ancestry continues to have “a Scandinavian problem” where many/most of their clients have a significant amount (some as high as the 30% range) of Scandinavian ancestry assigned to them that is not reflected by other testing companies or tools, or the tester’s known heritage – and is apparently incorrect.

However, Ancestry did pick up my minority Ancestry of both Native and African. How much credibility should I give that in light of the known Scandinavian issue?  In other words, if they can’t get 30% right, how could they ever get 4 or 5% right?

Remember what I said about companies doing pretty well on a comparative continental basis but sorting through ethnicity within a continent being much more difficult. This is the perfect example.  Ancestry also is not alone in reporting small amounts of my minority admixture.  The other companies do as well, although their amounts and descriptions don’t match each other exactly.

However, I can download any or all three of these raw data files to GedMatch and utilize their various ethnicity, triangulation and chromosome by chromosome comparison utilities. Both Family Tree DNA and Ancestry test more SNP locations than does 23andMe, and cost half as much, if you’re planning to test in order to upload your raw data file to GedMatch.

If you are considering ordering from either 23andMe or Ancestry, be sure you understand their privacy policy before ordering.

In Summary

I hate to steal Judy Russell’s line, but she’s right – it’s not soup yet if ethnicity testing is the only tool you’re going to use and if you’re expecting answers, not estimates.  View today’s ethnicity results from any of the major testing companies as interesting, because that’s what they are, unless you have a very specific research agenda, know what you are doing and plan to take a deeper dive.

I’m not discouraging anyone from ethnicity testing. I think it’s fun and for me, it was extremely informative.  But at the same time, it’s important to set expectations accurately to avoid disappointment, anxiety, misinformation or over-reliance on the results.

You can’t just discount these results because you don’t like them, and neither can you simply accept them.

If you think your grandfather was 100% Native America and you have no Native American heritage on the ethnicity test, the problem is likely not the test or the reference populations.  You should have 25% and carry zero.  The problem is likely that the oral history is incorrect.  There is virtually no one, and certainly not in the Eastern tribes, who was not admixed by two generations ago.  It’s also possible that he is not your grandfather.  View ethnicity results as a call to action to set forth and verify or refute their accuracy, especially if they vary dramatically from what you expected.  If it’s the truth you seek, this is your personal doorway to Delphi.

Just don’t trade in your lederhosen, or anything else just yet based on ethnicity results alone, because this technology it still in it’s infancy, especially within Europe.  I mean, after all, it’s embarrassing to have to go and try to retrieve your lederhosen from the pawn shop.  They’re going to laugh at you.

I find it ironic that Y DNA and mtDNA, much less popular, can be very, very specific and yield definitive answers about individual ancestors, reaching far beyond the 5th or 6th generation – yet the broad brush ethnicity painting which is much less reliable is much more popular.  This is due, in part, I’m sure, to the fact that everyone can take the ethnicity tests, which represent all lines.  You aren’t limited to testing one or two of your own lines and you don’t need to understand anything about genetic genealogy or how it works.  All you have to do is spit or swab and wait for results.

You can take a look at how Y and mtDNA testing versus autosomal tests work here.  Maybe Y or mitochondrial should be next on your list, as they reach much further back in time on specific lines, and you can use these results to create a DNA pedigree chart that tells you very specifically about the ancestry of those particular lines.

Ethnicity testing is like any other tool – it’s just one of many available to you.  You’ll need to gather different kinds of DNA and other evidence from various sources and assemble the pieces of your ancestral story like a big puzzle.  Ethnicity testing isn’t the end, it’s the beginning.  There is so much more!

My real hope is that ethnicity testing will kindle the fires and that some of the folks that enter the genetic genealogy space via ethnicity testing will be become both curious and encouraged and will continue to pursue other aspects of genealogy and genetic genealogy.  Maybe they will ask the question of “who” in their tree wore kilts or lederhosen and catch the genealogy bug.  Maybe they will find out more about grandpa’s Native American heritage, or lack thereof.  Maybe they will meet a match that has more information than they do and who will help them.  After all, ALL of genetic genealogy is founded upon sharing – matches, trees and information.  The more the merrier!

So, if you tested for ethnicity and would like to learn more, come on in, the water’s fine and we welcome both lederhosen and kilts, whatever you’re wearing today!  Jump right in!!!

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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

Further Analysis of Native American Haplogroup C-P39 Planned

Haplogroup C is one of two Native American male haplogroups. More specifically, one specific branch of the haplogroup C tree is Native American which is defined by mutation C-P39 (formerly known as C3b).  Ray Banks shows this branch (highlighted in yellow) along with sub-branches underneath on his tree:

C-P39 Ray Banks Tree

Please note that if you are designated at 23andMe as Y haplogroup C3e, you are probably C-P39. We encourage you to purchase the Y DNA 111 marker test at Family Tree DNA and join the haplogroup C and C-P39 projects.

It was only 11 years, ago in 2004 in the Zegura study, that C-P39 was reported among just a few Native American men in the Plains and Southwest.  Since that time The American Indian DNA project, surname projects and the AmerIndian Ancestry Out of Acadia DNA projects have accumulated samples that span the Canadian and American borders, reaching west to east, so haplogroup C-P39 is not relegated to the American Southwest.  It is, however, still exceedingly rare.

In August of 2012, Marie Rundquist, co-administrator of the haplogroup C-P39 DNA project performed an analysis and subsequent report of the relationships, both genealogical and genetic, of the C-P39 project members.  One of the burning questions is determining how far back in time the common ancestor of all of the C-P39 group members lived.

C-P39 MCRA

When Marie performed the first analysis, in 2012,, there were only 14 members in the project, representing 6 different families, and they had only tested to 67 markers. Most were from Canada.

C-P39 countries

My, how things have changed. We now have more participants, more markers to work with and additional tests to bring to bear on the questions of relatedness, timing and origins.

Today, there are a total of 43 people in the project and their locations include the Pacific Northwest, Appalachia, the Southwest and all across Canada, west to east.

If you are haplogroup C-P39 or C3e at 23andMe, please join the C-P39 project at Family Tree DNA today.  I wrote about how to join a project here, but if you need assistance, just let me know in a comment to the blog and Marie or I will contact you.  (Quick Instructions: sign on to your FTDNA account, click on projects tab on upper left toolbar, click on join, scroll down to Y haplogroup projects, click on C, select C-P39 project and click through to press orange join button.)

Marie is preparing to undertake a new analysis and provides the following announcement:

The C-P39 Y DNA project is pleased to announce a forthcoming updated and revised project report.  The C-P39 project has established a 111-marker baseline for our 2016 study and analysis will include:

  • 111 marker result comparisons
  • geo-locations
  • tribal / family relationships
  • C P39 SNP findings
  • new SNPs and Big Y results

The current C-P39 Y DNA study has a healthy diversity of surnames, geo-locations, and tribal / family lines represented.

The C-P39 Y DNA project will cover the costs of the necessary 111 marker upgrades by way of Family Tree DNA C-P39 Y DNA study project fund.

Thanks to all who have contributed to the project fund and to participants who have funded their own tests to 111 markers as part of our study.  To voluntarily contribute (anonymously if you like) to the C-P39 Y DNA project funds and help our project achieve this goal, please click on the link below and please do make certain that the “C-P39 Y-DNA” pre-selected project is highlighted when you do:

https://www.familytreedna.com/group-general-fund-contribution.aspx?g=Y-DNAC-P39

Thank you to project members contributing DNA test results to the C-P39 study and for encouraging friends and relatives to do the same!  Thank you also to Family Tree DNA management for their ongoing support.

The project needs to raise $3164 to upgrade all project members to 111 markers.  Many participants have already upgraded their own results, for which we are very grateful, but we need all project members at the 111 level if possible.

Please help fund this scientific project if you can.  Every little bit helps.  I’m going to start by making a donation right now!  You can make the donation in memory or in honor of someone or a particular ancestor – or you can be completely anonymous.  Please click on the link above to make your contribution!!!  We thank you and the scientific community thanks you.

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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

What is a DNA Scholarship and How Do I Get One?

I mention DNA scholarships from time to time in my 52 Ancestor articles and sometimes in conjunction with other projects as well.

What, exactly, is a DNA scholarship? Who gets one?  How and why?

First, let’s talk a bit about the basics of how DNA works, because understanding that is fundamental to understanding why we have DNA scholarships in the first place, who qualifies and why. Not everyone has the DNA they need for testing specific genealogical lines – and scholarships are a way to obtain that information from others.  I think of it as a testing incentive to someone who is already interested at some level.

Every person can test their DNA, but each person carries a unique and very important type of DNA from just one or two very specific ancestors.

DNA for Genealogy – Y and Mitochondrial

There are three kinds of DNA we can use for genealogy.

Mitochondrial DNA, carried by both males and females, is your mother’s mother’s mother’s line all the way up your tree until you run out of direct line mothers.

Y DNA, which only males carry, is inherited from the father’s father’s father’s direct paternal line which typically follows the surname.

The pedigree chart path of both Y (blue) and mitochondrial DNA (red) is shown on the pedigree chart below

Y and mito

You’ve probably noticed that the brother, or males, carry both blue Y DNA and red mitochondrial DNA, but the sister, or females, carry only red mitochondrial DNA.

Sisters, or females, pass mitochondrial DNA on to their offspring, but males don’t.

So, males can test for Y and mitochondrial DNA and females can only test for mitochondrial DNA. In either case, the mitochondrial DNA reflects the oldest direct matrilineal ancestor in that line.

Most (but not all) of the DNA scholarships that I offer are for Y and mitochondrial DNA lineages and Family Tree DNA is the only company that offers these types of genealogical tests.

Autosomal DNA

The third kind of DNA for genetic genealogy is autosomal DNA which allows testing for all of your ancestral lines and provides matching to others who carry the same DNA. The trick is, of course, that you have to look at your common genealogy to figure out why your DNA matches, meaning which ancestor you share.  Sometimes that quest is successful, and sometimes it isn’t.

Autosomal path

The reason autosomal DNA matching works is because you and the person you match have inherited a piece of the same DNA from a common ancestor. In the above chart, the DNA of the ancestors is colored blue, yellow, green, etc.  When you match someone else with a common segment, your goal is to determine which ancestor it came from.

Your autosomal DNA segments from any given ancestor become smaller and smaller over time with each generation, until eventually, they either become so small they don’t show up as matches, or you lose them altogether as more and more generations accrue between you and that ancestor. Ancestral DNA is “diluted” in a sense in every generation when the offspring receives half of each parent’s DNA.  The chances of carrying a particular distant ancestor’s DNA become less in each generation.

However, the Y and mitochondrial DNA are never diluted, because they are never admixed with the DNA of the other parent. They are passed intact, and therefore they provide a periscope back into the very distant past, but ONLY for that particular line.  In many cases, the haplogroup, or “clan” tells you a great deal about that ancestor, such as where they were from ancestrally.  There are African, Native American, Asian, Jewish and European haplogroups, and yes of course there is some overlap between some of those, but we have advanced tools to deal with that too.

Combining Autosomal DNA with Y and Mitochondrial

If you can discover the Y and mitochondrial DNA haplogroup of each of the ancestors on your tree, you can tell a great deal about them that may well have washed out in the autosomal DNA. For example, in the colored graph above, let’s say that the blue male line is unquestionably Native American and carries a distinctive Native American Y haplogroup, C-P39.

Using this example, if the blue male great-grandfather is 100% Native, which is very unlikely today, the “son’s” and “daughter’s” autosomal DNA would reflect something like 12.5% Native heritage.

However, if the blue great grandfather was himself only one eighth Native, he would have carried roughly 6.25% total Native autosomal DNA and his children would carry roughly 3.25%. The father in this chart would carry roughly 1.63% Native autosomal DNA and the children in the chart, only .81 or less than 1%, an amount which is generally not recognizable on autosomal ethnicity tests today.  It’s also possible that the Native autosomal DNA has “washed out” entirely by this time.

The good news is that the Y DNA is still 100% Native. So even though Native heritage may not be detectable today in the autosomal tests, it’s 100% confirmed in the Y DNA test for that line.  This makes Y DNA a very powerful tool.  Mitochondrial DNA works the very same way on the matrilineal line – it never gets diluted either.

But, what if your Native ancestor is not in either the Y (blue) or mitochondrial (red) lines that you can directly test for?  What if your Native ancestor is in the yellow, green, pink, grey, gold or aqua lines.  You won’t know what the DNA of those direct Y or mitochondrial lines tells you until you find someone appropriately descended from those lines to test.

DNA Beggars

You’ve now become a DNA beggar – begging for people who do descend from those lines through Y or mitochondrial DNA to test. If you’re a female, it can become immediately evident if you have no male siblings and your father is deceased.  In this case, you can’t test your Y DNA directly (because you don’t have a Y chromosome,) but you desperately need those results to flesh out your genealogy.

The good news is that this same information is important to other people too and they DO carry the Y or mitochondrial DNA of the lineage you need.

I call this process creating your DNA pedigree chart.  Here’s an example of mine with haplogroups, where known.

DNA Pedigree

The good news is that sometimes people from those lineages have already tested and you may be able to find them through either surname projects, Ysearch or Mitosearch. When I can’t find someone who has already tested, I try various methods to recruit a suitable candidate and sweeten the pie by offering a DNA scholarship.

DNA Scholarships

Given that you want other people to test their DNA to provide information for your common ancestor – the best way to obtain that is to offer to pay for the test. Hence, the DNA scholarship.  Some people don’t feel comfortable if I say I’m paying for a test.  Sometimes, in surname and haplogroup projects, people join forces to pay for tests for someone with a particular lineage.  Regardless of who pays, or how, the result is that a DNA scholarship is available for someone of a particular lineage.

Looking for a DNA Scholarship?

You’d actually be surprised how many scholarships, or free DNA tests, are available. The ISOGG Wiki holds a list under the title of “Free DNA Tests” at this link.

The scholarships I offer, listed below, are for one person, and when someone has taken that one test, the scholarship is no longer available. I’ll update this list as I add scholarships and as they are (hopefully) redeemed.

Mitochondrial DNA Testing Scholarship for anyone who descends through any from the following people (or their female siblings) through all females only. In the current generation, meaning you, males can test so long as there are only females between the male and the ancestor.

Y DNA Testing Scholarship for any male who descends from the following people through all males, meaning you carry the surname today:

  • Berchtol, Hans (1641/53-1711) Konken/Krottelbach, Germany, wife Anna Christina or Hans Simon Berchtol/Bechtel, wife Catherine, living in Steinwenden, Germany in the same timeframe
  • Bonnevie, Jacque dit “Beaumont” (c1660 Paris -1783 Port Royal, Acadia)
  • Combs, John (c1705-1762) Amelia County, VA or brother George Combs (b 1701/05-c1765) lived in Charlotte County, VA
  • Dorfler, Johann George (1732-1790), Speichersdorf and Wirbenz, Germany, married Anna Magdalena Buntzman, Johann Dorfler (1699-1779) Wirbenz married Anna Gerlin, Johann Dorfler (born c 1660) Wirbenz married Barbara Ehl
  • Drechsel, George (1823-1908), born in Speichersdorf, Germany, died Aurora, Indiana in 1908, married Barbara Mehlheimer, son John Edward Drexler lived in Cincinnati married to Lizzie Theisinger
  • Mann, John (1725 Ulster, Ireland-1774 Botetourt Co., VA) married Frances Carpenter
  • Martin, Thomas (b 1577 Ringwould, Kent), father William Martin (died 1614)
  • Mercer, Edward (c1704-1763) married Ann, lived in Frederick County, VA
  • Woodrow/Woodward, Matthew born about 1550 probably Northborne, Kent

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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

How to Join a DNA Project

Family Tree DNA provides three types of projects for people to join. Projects are free to join and are run by volunteer project administrators, people who have a specific interest in the topic at hand and are generally quite glad to be of assistance.  Projects are great ways to find people you match and others interested in a common topic.

There are three kinds of DNA projects:

  • Surname projects – like Estes
  • Haplogroup Projects – like R1b, M269 or J1c2f, for both Y and mitochondrial DNA haplogroups and subgroups
  • Geographic projects – really anything else that isn’t a surname or a haplogroup, like Cumberland Gap or Cherokee or Scottish DNA

You can join unlimited multiple projects, but you want to make sure projects you join are relevant to your genealogy, your research and/or your haplogroup.

I covered haplogroup projects in depth here and surname projects in depth here, but today, I just want to do a simple “how to” instruction on how to find and join any project of your choosing.

Joining projects is easy.

First, of course, you must have tested at or transferred your results to Family Tree DNA and you must have taken the type of test relevant to the project at hand.

For example, if you have taken the Family Finder Autosomal test and not taken any other tests, you can’t join a Y DNA project because you have not tested your Y chromosome. Ladies, sorry, you can’t join Y DNA projects either because you don’t have a Y chromosome.

If you haven’t yet tested, then you can join a project and get a discount on your test at the same time. If you already have results at Family Tree DNA, skip to the next section, “Joining Up.”

Discounts When Ordering Through Projects

You can order tests through projects at a discount if you’ve never tested before. To do that, just click on this link, then type your surname of interest into the search field by the green text box.

join 13

Hint – if you’re an adoptee, just type adoptee and you’ll see the adoptee project. If you type a surname, you’ll see surname related projects.

Join 14

Click on the project you’re interested in joining to see discounted project based pricing, example shown below.

Join 15

Not sure what to order? You can read about the different kinds of DNA testing and how they apply to various ancestors on your tree in this “basic” DNA article.

Joining Up

If you’re already a customer at Family Tree DNA, it’s easy to join projects. First, sign on to your account.

Join 1

You’ll see your home page that looks something like this at the top.

In the upper left hand tool bar you’ll see the projects tab, with 3 drop down selections, shown below.

Join 2

“Learn About Projects” is basic information which you should, of course, read.

The “Manage My Projects” selection shows you which projects you are a member of and provides you with a convenient click list to visit any of your projects.

Join 3

But before you can manage projects, you have to join some first.

Click on “Join Projects.”

The first thing you will see is a list, based on your surname, of projects where the administrators have entered your surname as a surname of interest to their projects. This may or may not be useful to you.  If your surname is the surname of your spouse – not useful at all.  In my case, however, Estes is my maiden name so these projects might be useful to me.

Join 4

Let’s take a quick look.

  • The Cumberland Gap mtDNA project isn’t relevant, because my Estes line is my paternal line and my mitochondrial DNA is my matrilineal line – so no cigar on this one.
  • The Cumberland Gap Y DNA project isn’t relevant for me, because I’m a female and don’t have a Y chromosome, although my family is from the Cumberland Gap area. Hmmm…I need to find a related Estes male to test so he can join that project.
  • The Estes surname project. I have it on good authority that I can join this project whether or not I’m related via the Y, mitochondrial or autosomal connection. Hint – I founded this project and yes, we welcome anyone who is Estes descended.
  • Estis Jewish Ukraine – Nope doesn’t pertain to me and neither do the surnames Jester or Maestas, although clearly Estes could be derivative spellings of those surnames.
  • The I-L161 project is a Y DNA haplogroup project, so I’m not sure why a surname would be listed here, but this does not apply to me as I have no Y chromosome.
  • The administrators of the North Carolina Early project have obviously found the Estes surname in early records, but my line came through Virginia and Tennessee, so this doesn’t pertain to me either.

So, I can join one of these projects. Please, please take the time to read the project descriptions to see if the projects listed are a good fit for your family and for the stated project goals.

Some people think that this list is Family Tree DNA recommending certain projects, or suggesting that they join these projects. It isn’t.  The only way these projects appear is for the administrator to list your surname as one that their project is interested in – and it’s likely not universal meaning not relevant to everyone who carries the surname.  For example, Early North Carolina is confined to a specific geography and timeframe.

Obviously, there are probably other projects of interest that can’t be sensed by your surname.

Join 5

At the bottom of the project list, there is a search field, followed by a list of projects that are divided into types.

First, type into the search box the surname (or word) you are trying to find. Let’s use Ferverda for example.

Join 6

Yes, there is one project with 3 members for Ferverda. You can click on the project name to see additional information.  In fact, please do read the entire project description, because that’s the only way you’ll know if you qualify to join and the project is a good fit.  For example, what is the word Ferverda, or worse yet, Ireland?  Is it a surname or a place?  If it’s the place, can you join only if you are proven to descend from Ireland or can you join if might have Irish heritage?  Mitochondrial or Y DNA, or both?  What about autosomal DNA?  Read the project description to find out.

Join 7

Once you’ve determined that this project is for you, click the orange join button to join. Don’t worry, you can unjoin easily if you make a mistake.  Some projects have a “request to join” feature to be sure the pairing is a good fit.

Can’t find your surname? Try an alternate spelling or scroll down and see if you can find a different kind of project that fits the bill.  (Hint – you can double click on this image to make it larger.)

Join 8

For example, let’s see what’s available under the letter B under Y-DNA Geographical projects:

Join 9

Hmm, I can’t join those because they are Y DNA projects, so lets look under mtDNA Haplogroup projects. I’m haplogroup J.

Look, here’s the perfect project for me!

Join 10

Now all I have to do is click on the project link and then on the orange Join button to become a member.

Privacy Settings and Sharing

You will want to be sure your privacy settings are set such that your results will show in the projects you choose to join. I wrote about that here with specific instructions, so be sure to check, especially if you tested in 2015 or later, because the default is set to not publicly sharing.  This means if you don’t change your settings, your results will not be visible on the public project page.  An example of my haplogroup J project results on the public project page is shown below.

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The great thing about projects is that they ultimately benefit everyone through sharing, but sharing is the key word.

For example, this map of where the J1c2f ancestors are found in Europe and Asia, generated within the haplogroup J project, would not be available if people didn’t:

  1. Join projects
  2. Share publicly
  3. Enter the location of their most distant ancestor for that line

Join 12These maps allow us to take a look at the migration and settlement story behind this haplogroup. There are there hints based cumulatively on where our most distant ancestors are found.  We’ll never unravel the ancestral story without these hints and these hints are the results of shared information.  So, please share.  You’ll benefit from others sharing and others will benefit from you sharing.  Sort of a scratch my back and I’ll scratch yours scenario.

Have fun and find some great projects to join. You never know where your DNA will take you or the discoveries you’ll make!  What is your DNA waiting to tell you?

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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

Genealogy and Ethnicity DNA Testing – 3 Legitimate Companies

Big 3 logos

Update: Please note that a 4th company has now been added to this list, MyHeritage.

As with any industry that has become popular, especially quickly, there are the front runner companies, and then there is an entire cadre of what I am going to call “third tier” companies that spring up and are trying to play off of the success of the front runners and the naivety of the consuming public. I’m going to avoid the use of the words snake oil here, because some of them aren’t quite that bad, but others clearly are.  You get the drift, I’m sure.  There is a very big gulf, as in a chasm, between the three front-runners, Family Tree DNA, Ancestry and 23andMe, whose recognizable logos you see above and the rest of the pack.

Recently, we’ve seen a huge raft of people finding these “third tier” companies, purchasing their products thinking they’re getting something they aren’t, often due to what I would call corporate weasel-wording and snazzy ads, and then being unhappy with their purchase. Unfortunately, often the purchasers don’t understand that they’ve in essence “been had.”  This type of behavior tarnishes the entire genetic genealogy industry.

So, if you find a test on LivingSocial or a Groupon coupon that “looks familiar” it may by the AncestrybyDNA test that people mistakenly purchase instead of the AncestryDNA kit sold by Ancestry.com.  They think they are getting a great deal on the AncestryDNA test.  They aren’t.  It’s not the same thing at all.  AncestrybyDNA is an old, inaccurate, ineffective test called DNAPrint that has been rebranded to be sold to the unsuspecting.  Don’t buy this Groupon item.

There are other useless tests too, probably too many to mention by name, plus I really don’t want to give them any publicity, even inadvertently.

I also want to be clear that I’m only talking about genetic genealogy and ethnicity testing, not about medical DNA testing or traditional paternity testing, although some of the labs that offer paternity testing services also offer the less than forthright tests, in fact, those very two mentioned above.  I’m also not talking about add-on services like GedMatch and DNAGedcom which don’t provide DNA testing and do provide much valued services within the genetic genealogy community.  I’m also not talking about the Genographic project testing which does provide great information but is not in essence a genetic genealogy test in the sense that you can’t compare your results with others.  You can, however, transfer your results from the Genographic project to Family Tree DNA where you can compare with others.

Twisting the Truth

One of the biggest areas ripe for harvesting by sheisters are the thousands of people who descend, or think they descend from, or might descend from Native Americans. It’s a very common question.

If you find a company that says they will tell you what Indian tribe you descend from, and believe me, they’re out there, just know that you really can’t do that today with just a DNA test.  If you could identify a tribe that quickly and easily, these three leading companies would be doing just that – it would be a booming consumer product.  “Identifying my tribe” is probably my most frequently asked question and a highly sought after piece of information, so I’m not surprised that companies have picked up on that aspect of genetic genealogy to exploit.  I wrote about proving Native heritage and what it takes to identify your tribe here and here.  If that’s how they’re trying to hook you, you’re either going to be massively disappointed in your results, or the results are going to be less than forthright and truthful.

Yes, the DNA truth can be twisted and I see these “twisted results” routinely that people have paid a lot of money to receive and desperately want to believe.

Let me just give you one very brief example of DNA “fact” twisting. Person one claims (“self-identifies” in the vernacular), with no research or proof, that their maternal grandma is Cherokee, a very common family story.  Their mitochondrial haplogroup is H3, clearly, unquestionably European and not Native.  You test and share haplogroup H3 with person one.  I’ve seen companies that then claim you descend from the same “Cherokee line” as person one with haplogroup H3 and therefore you too are magically Cherokee because you match someone in their data base that is “Cherokee.” Congratulations!  I guess all Europeans who carry haplogroup H3 are also Cherokee, using that same logic.  Won’t they be surprised!

This H3=Cherokee analogy is obviously incorrect and inaccurate in several different ways, but suffice it to say that, as a hopeful consumer, you are now very happy that you are now “proven” to be Cherokee and you have no idea or understanding that it’s all predicated on one person’s “self-identification” that allows the less-than-ethical company to then equate all other H3 people to a “Cherokee lineage.” The problem is that you aren’t either proven Native nor Cherokee on your direct matrilineal line. And you’ve been snookered.  But you’re obliviously happy.

What a shameful way to exploit Native people and their descendants, not to mention the consuming public.

Unfortunately, there are lots of ways to twist the truth, intentionally or inadvertently.  If you’re looking for direction on this topic, there is a FaceBook group called Native American Ancestry Explorer: DNA, Genetics, Genealogy and Anthropology that I would recommend.

In genetic genealogy, meaning for both genealogy and ethnicity, there are three companies that are the frontrunners, by any measure, and then there are the rest, many of whom misrepresent their wares and what they can legitimately tell you. Or they tell you, and you have no idea if what they say is accurate or their own version of “truth” from their own “private research” and data bases, i.e., H3=Cherokee.

The Big 3

So, here are the Big 3 testing companies, in my preference order.

  1. Family Tree DNA
  2. Ancestry
  3. 23andMe

Not only are these the Big 3, they are the only three that give you the value for your money as represented, plus the ability to compare your results to others.

Family Tree DNA is the only company to provide mitochondrial and Y DNA testing and matching.

All three of these companies provide autosomal tests and provide you:

  • Ethnicity estimates
  • Autosomal DNA Results (downloadable)
  • Autosomal DNA Matching to others in their data base
  • Different tools at each company that vary in quality and completeness

If it’s not one of these three companies, don’t buy, JUST DON’T.

You can debate all day about which of these three companies is the best for you (or maybe all three), but that is what the debate SHOULD be about, not whether to use one of these companies versus some third tier company.

I’m am not going to do a review of these companies in this article. Suffice it to say that my 2015 review holds relatively well EXCEPT that 23andMe is still going through something of a corporate meltdown with their genetic genealogy product which has caused me to take them off of my recommended list other than for adoptees who should test with all three vendors due to their data base matching.  Also, if you’re trying to make a decision in relation to the Big 3 companies and testing, you might want to read these two articles, here and here, as well.

I will do a 2016 review after 23andMe finishes their transition so we know how the genealogy aspect of their new services will work.

Personally, I think that everyone interested in genetic genealogy should test their mitochondrial DNA (males and females both,) and Y DNA (males only) at Family Tree DNA and their autosomal DNA (males and females both) at both Ancestry and Family Tree DNA. Family Tree DNA offers a $39 transfer from Ancestry, so you can put together a nice testing package and reap all of the benefits.  Here’s a basic article about the different kinds of DNA testing, what they cover and how, based on your family tree.

Bottom Line

So, here’s the bottom line – as heated as the debate gets sometimes within the genetic genealogy community about which of the three vendors, Family Tree DNA, Ancestry or 23andMe, is best, that really IS the question to debate.  The question should NEVER be whether to use a third tier company for genetic genealogy or ethnicity instead of one of these three.

So spread the word and hopefully none of our genealogy friends or well-meaning spouses or family members purchasing gifts with the very best of intentions will get sucked in. Stick with the Big 3.

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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