Every year for the past 17 years has been the year of DNA for me, but for many millions, 2017 has been the year of DNA. DNA testing has become a phenomenon in its own right.
It was in 2013 that Spencer Wells predicted that 2014 would be the “year of infection.” Spencer was right and in 2014 DNA joined the ranks of household words. I saw DNA in ads that year, for the first time, not related to DNA testing or health as in, “It’s in our DNA.”
In 2014, it seemed like most people had heard of DNA, even if they weren’t all testing yet. John Q. Public was becoming comfortable with DNA.
In 2017 – DNA Is Mainstream
If you’re a genealogist, you certainly know about DNA testing, and you’re behind the times if you haven’t tested. DNA testing is now an expected tool for genealogists, and part of a comprehensive proof statement that meets the genealogical proof standard which includes “a reasonably exhaustive search.” If you haven’t applied DNA, you haven’t done a reasonably exhaustive search.
A paper trail is no longer sufficient alone.
When I used to speak to genealogy groups about DNA testing, back in the dark ages, in the early 2000s, and I asked how many had tested, a few would raise their hands – on a good day.
In October, when I asked that same question in Ireland, more than half the room raised their hand – and I hope the other half went right out and purchased DNA test kits!
Consequently, because the rabid genealogical market is now pretty much saturated, the DNA testing companies needed to find a way to attract new customers, and they have.
2017 – The Year of Ethnicity
I’m not positive that the methodology some of the major companies utilized to attract new consumers is ideal, but nonetheless, advertising has attracted many new people to genetic genealogy through ethnicity testing.
If you’re a seasoned genetic genealogist, I know for sure that you’re groaning now, because the questions that are asked by disappointed testers AFTER the results come back and aren’t what people expected find their way to the forums that genetic genealogists peruse daily.
I wish those testers would have searched out those forums, or read my comparative article about ethnicity tests and which one is “best” before they tested.
More ethnicity results are available from vendors and third parties alike – just about every place you look it seems. It appears that lots of folks think ethnicity testing is a shortcut to instant genealogy. Spit, mail, wait and voila – but there is no shortcut. Since most people don’t realize that until after they test, ethnicity testing is becoming ever more popular with more vendors emerging.
In the spring, LivingDNA began delivering ethnicity results and a few months later, MyHeritage as well. Ethnicity is hot and companies are seizing a revenue opportunity.
Now, the good news is that perhaps some of these new ethnicity testers can be converted into genealogists. We just have to view ethnicity testing as tempting bait, or hopefully, a gateway drug…
2017 – The Year of Explosive Growth
DNA testing has become that snowball rolling downhill that morphed into an avalanche. More people are seeing commercials, more people are testing, and people are talking to friends and co-workers at the water cooler who decide to test. I passed a table of diners in Germany in July to overhear, in English, discussion about ethnicity-focused DNA testing.
If you haven’t heard of DTC, direct to consumer, DNA testing, you’re living under a rock or maybe in a third world country without either internet or TV.
Most of the genetic genealogy companies are fairly closed-lipped about their data base size of DNA testers, but Ancestry isn’t. They have gone from about 2 million near the end of 2016 to 5 million in August 2017 to at least 7 million now. They haven’t said for sure, but extrapolating from what they have said, I feel safe with 7 million as a LOW estimate and possibly as many as 10 million following the holiday sales.
Advertising obviously pays off.
MyHeritage recently announced that their data base has reached 1 million, with only about 20% of those being transfers.
Based on the industry rumble, I suspect that the other DNA testing companies have had banner years as well.
The good news is that all of these new testers means that anyone who has tested at any of the major vendors is going to get lots of matches soon. Santa, it seems, has heard about DNA testing too and test kits fit into stockings!
That’s even better news for all of us who are in multiple data bases – and even more reason to test at all of the 4 major companies who provide DNA matching for their customers: Family Tree DNA, Ancestry, MyHeritage and 23andMe.
2017 – The Year of Vendor and Industry Churn
So much happened in 2017, it’s difficult to keep up.
- MyHeritage entered the DNA testing arena and began matching in September of 2016. Frankly, they had a mess, but they have been working in 2017 to improve the situation. Let’s just say they still have some work to do, but at least they acknowledge that and are making progress.
- MyHeritage has a rather extensive user base in Europe. Because of their European draw, their records collections and the ability to transfer results into their data base, they have become the 4th vendor in a field that used to be 3.
- In March 2017, Family Tree DNA announced that they were accepting transfers of both the Ancestry V2 test, in place since May of 2016, along with the 23andMe V4 test, available since November 2013, for free. MyHeritage has since been added to that list. The Family Tree DNA announcement provided testers with another avenue for matching and advanced tools.
- Illumina obsoleted their OmniExpress chip, forcing vendors to Illumina’s new GSA chip which also forces vendors to use imputation. I swear, imputation is a swear word. Illumina gets the lump of coal award for 2017.
- I wrote about imputation here, but in a nutshell, the vendors are now being forced to test only about 20% of the DNA locations available on the previous Illumina chip, and impute or infer using statistics the values in the rest of the DNA locations that they previously could test.
- Early imputation implementers include LivingDNA (ethnicity only), MyHeritage (to equalize the locations of various vendor’s different chips), DNA.Land (whose matching is far from ideal) and 23andMe, who seems, for the most part, to have done a reasonable job. Of course, the only way to tell for sure at 23andMe is to test again on the V5 chip and compare to V3 and V4 chip matches. Given that I’ve already paid 3 times to test myself at 23andMe (V2, 3 and 4), I’m not keen on paying a 4th time for the V5 version.
- 23andMe moved to the V5 Illumina GSA chip in August which is not compatible with any earlier chip versions.
- Needless to say, the Illumina chip change has forced vendors away from focusing on new products in order to develop imputation code in order to remain backwards compatible with their own products from an earlier chip set.
- GedMatch introduced their sandbox area, Genesis, where people can upload files that are not compatible with the traditional vendor files. This includes the GSA chip results (23andMe V5,) exome tests and others. The purpose of the sandbox is so that GedMatch can figure out how to work with these files that aren’t compatible with the typical autosomal test files. The process has been interesting and enlightening, but people either don’t understand or forget that it’s a sandbox, an experiment, for all involved – including GedMatch. Welcome to living on the genetic frontier!
- I assembled a chart of who loves who – meaning which vendors accept transfers from which other vendors.
- I suspect but don’t know that Ancestry is doing some form of imputation between their V1 and V2 chips. About a month before their new chip implementation in May of 2016, Ancestry made a change in their matching routine that resulting in a significant shift in people’s matches.
Because of Ancestry’s use of the Timber algorithm to downweight some segments and strip out others altogether, it’s difficult to understand where matching issues may arise. Furthermore, there is no way to know that there are matching issues unless you and another individual have transferred results to either Family Tree DNA or GedMatch, neither of which remove any matching segments.
- Other developments of note include the fact that Family Tree DNA moved to mitochondrial DNA build V17 and updated their Y DNA to hg38 of the human reference genome – both huge undertakings requiring the reprocessing of customer data. Think of both of those updates as housekeeping. No one wants to do it, but it’s necessary.
- 23andMe FINALLY finished transferring their customer base to the “New Experience,” but many of the older features we liked are now gone. However, customers can now opt in to open matching, which is a definite improvement. 23andMe, having been the first company to enter the genetic genealogy autosomal matching marketspace has really become lackluster. They could have owned this space but chose not to focus on genealogy tools. In my opinion, they are now relegated to fourth place out of a field of 4.
- Ancestry has updated their Genetic Communities feature a couple of times this year. Genetic Communities is interesting and more helpful than ethnicity estimates, but neither are nearly as helpful as a chromosome browser would be.
- I’m sure that the repeated requests, begging and community level tantrum throwing in an attempt to convince Ancestry to produce a chromosome browser is beyond beating a dead horse now. That dead horse is now skeletal, and no sign of a chromosome browser. Sigh:(
- The good news is that anyone who wants a chromosome browser can transfer their results to Family Tree DNA or GedMatch (both for free) and utilize a chromosome browser and other tools at either or both of those locations. Family Tree DNA charges a one time $19 fee to access their advanced tools and GedMatch offers a monthly $10 subscription. Both are absolutely worth every dime. The bad news is, of course, that you have to convince your match or matches to transfer as well.
- If you can convince your matches to transfer to (or test at) Family Tree DNA, their tools include phased Family Matching which utilizes a combination of user trees, the DNA of the tester combined with the DNA of family matches to indicate to the user which side, maternal or paternal (or both), a particular match stems from.
- Sites to keep your eye on include Jonny Perl’s tools which include DNAPainter, as well as Goran Rundfeldt’s DNA Genealogy Experiment. You may recall that in October Goran brought us the fantastic Triangulator tool to use with Family Tree DNA results. A few community members expressed concern about triangulation relative to privacy, so the tool has been (I hope only temporarily) disabled as the involved parties work through the details. We need Goran’s triangulation tool! Goran has developed other world class tools as well, as you can see from his website, and I hope we see more of both Goran and Jonny in 2018.
- In 2017, a number of new “free” sites that encourage you to upload your DNA have sprung up. My advice – remember, there really is no such thing as a free lunch. Ask yourself why, what’s in it for them. Review ALL OF THE documents and fine print relative to safety, privacy and what is going to be done with your DNA. Think about what recourse you might or might not have. Why would you trust them?
My rule of thumb, if the company is outside of the US, I’m immediately slightly hesitant because they don’t fall under US laws. If they are outside of Europe or Canada, I’m even more hesitant. If the company is associated with a country that is unfriendly to the US, I unequivocally refuse. For example, riddle me this – what happens if a Chinese (or fill-in-the-blank country) company violates an agreement regarding your DNA and privacy? What, exactly, are you going to do about it from wherever you live?
2017 – The Year of Marketplace Apps
Third party genetics apps are emerging and are beginning to make an impact.
GedMatch, as always, has continued to quietly add to their offerings for genetic genealogists, as had DNAGedcom.com. While these two aren’t exactly an “app”, per se, they are certainly primary players in the third party space. I use both and will be publishing an article early in 2018 about a very useful tool at DNAGedcom.
Another application that I don’t use due to the complex setup (which I’ve now tried twice and abandoned) is Genome Mate Pro which coordinates your autosomal results from multiple vendors. Some people love this program. I’ll try, again, in 2018 and see if I can make it all the way through the setup process.
The real news here are the new marketplace apps based on Exome testing.
Helix and their partners offer a number of apps that may be of interest for consumers. Helix began offering a “test once, buy often” marketplace model where the consumer pays a nominal price for exome sequencing ($80), significantly under market pricing ($500), but then the consumer purchases DNA apps through the Helix store. The apps access the original DNA test to produce results. The consumer does NOT receive their downloadable raw data, only data through the apps, which is a departure from the expected norm. Then again, the consumer pays a drastically reduced price and downloadable exome results are available elsewhere for full price.
The Helix concept is that lots of apps will be developed, meaning that you, the consumer, will be interested and purchase often – allowing Helix to recoup their sequencing investment over time.
Looking at the Helix apps that are currently available, I’ve purchased all of the Insitome products released to date (Neanderthal, Regional Ancestry and Metabolism), because I have faith in Spencer Wells and truthfully, I was curious and they are reasonably priced.
Aside from the Insitome apps, I think that the personalized clothes are cute, if extremely overpriced. But what the heck, they’re fun and raise awareness of DNA testing – a good thing! After all, who am I to talk, I’ve made DNA quilts and have DNA clothing too.
Having said that, I’m extremely skeptical about some of the other apps, like “Wine Explorer.” Seriously???
But then again, if you named an app “I Have More Money Than Brains,” it probably wouldn’t sell well.
Other apps, like Ancestry’s WeRelate (available for smartphones) is entertaining, but is also unfortunately EXTREMELY misleading. WeRelate conflates multiple trees, generally incorrectly, to suggest to you and another person on your Facebook friends list are related, or that you are related to famous people. Judy Russell reviews that app here in the article, “No, actually, we’re not related.” No. Just no!
I feel strongly that companies that utilize our genetic data for anything have a moral responsibility for accuracy, and the WeRelate app clearly does NOT make the grade, and Ancestry knows that. I really don’t believe that entertaining customers with half-truths (or less) is more important than accuracy – but then again, here I go just being an old-fashioned fuddy dud expecting ethics.
And then, there’s the snake oil. You knew it was going to happen because there is always someone who can be convinced to purchase just about anything. Think midnight infomercials. The problem is that many consumers really don’t know how to tell snake oil from the rest in the emerging DNA field.
You can now purchase DNA testing for almost anything. Dating, diet, exercise, your taste in wine and of course, vitamins and supplements. If you can think of an opportunity, someone will dream up a test.
How many of these are legitimate or valid? Your guess is as good as mine, but I’m exceedingly suspicious of a great many, especially those where I can find no legitimate scientific studies to back what appear to be rather outrageous claims.
My main concern is that the entire DTC testing industry will be tarred by the brush of a few unethical opportunists.
2017 – The Year of Focus on Privacy and Security
With increased consumer exposure comes increased notoriety. People are taking notice of DNA testing and it seems that everyone has an opinion, informed or not. There’s an old saying in marketing; “Talk about me good, talk about me bad, just talk about me.”
With all of the ads have come a commensurate amount of teeth gnashing and “the-sky-is-falling” type reporting. Unfortunately, many politicians don’t understand this industry and open mouth only to insert foot – except that most people don’t realize what they’ve done. I doubt that the politicians even understand that they are tasting toe-jam, because they haven’t taken the time to research and understand the industry. Sound bites and science don’t mix well.
The bad news is that next, the click-bait-focused press picks up on the stories and the next time you see anyone at lunch, they’re asking you if what they heard is true. Or, let’s hope that they ask you instead of just accepting what they heard as gospel. Hopefully if we’ve learned anything in this past year, it’s to verify, verify, verify.
I’ve been an advocate for a very long time of increased transparency from the testing companies as to what is actually done with our DNA, and under what circumstances. In other words, I want to know where my DNA is and what it’s being used for. Period.
Family Tree DNA answered that question succinctly and unquestionably in December.
Bennett Greenspan: “We could probably make a lot of money by selling the DNA data that we’ve been collecting over the years, but we feel that the only person that should have your DNA information is you. We don’t believe that it should be sold, traded or bartered.”
You can’t get more definitive than that.
DTC testing for genetic genealogy must be a self-regulating field, because the last thing we need is for the government to get involved, attempting to regulate something they don’t understand. I truly believe government interference by the name of regulation would spell the end of genetic genealogy as we know it today. DNA testing for genetic genealogy without sharing results is entirely pointless.
I’ve written about this topic in the past, but an update is warranted and I’ll be doing that sometime after the first of the year. Mostly, I just need to be able to stay awake while slogging through the required reading (at some vendor sites) of page after page AFTER PAGE of legalese😊
Consumers really shouldn’t have to do that, and if they do, a short, concise summary should be presented to them BEFORE they purchase so that they can make a truly informed decision.
Stay tuned on this one.
2017 – The Year of Education
The fantastic news is that with all of the new people testing, a huge, HUGE need for education exists. Even if 75% of the people who test don’t do anything with their results after that first peek, that still leaves a few million who are new to this field, want to engage and need some level of education.
In that vein, seminars are available through several groups and institutes, in person and online. Almost all of the leadership in this industry is involved in some educational capacity.
In addition to agendas focused on genetic genealogy and utilizing DNA personally, almost every genealogy conference now includes a significant number of sessions on DNA methods and tools. I remember the days when we were lucky to be allowed one session on the agenda, and then generally not without begging!
When considering both DNA testing and education, one needs to think about the goal. All customer goals are not the same, and neither are the approaches necessary to answer their questions in a relevant way.
New testers to the field fall into three primary groups today, and their educational needs are really quite different, because their goals, tools and approaches needed to reach those goals are different too.
Adoptees and genealogists employ two vastly different approaches utilizing a common tool, DNA, but for almost opposite purposes. Adoptees wish to utilize tests and trees to come forward in time to identify either currently living or recently living people while genealogists are interested in reaching backward in time to confirm or identify long dead ancestors. Those are really very different goals.
I’ve illustrated this in the graphic above. The tester in question uses their blue first cousin match to identify their unknown parent through the blue match’s known lineage, moving forward in time to identify the tester’s parent. In this case, the grandparent is known to the blue match, but not to the yellow tester. Identifying the grandparent through the blue match is the needed lynchpin clue to identify the unknown parent.
The yellow tester who already knows their maternal parent utilizes their peach second cousin match to verify or maybe identify their maternal great-grandmother who is already known to the peach match, moving backwards in time. Two different goals, same DNA test.
The three types of testers are:
- Curious ethnicity testers who may not even realize that at least some of the vendors offer matching and other tools and services.
- Genealogists who use close relatives to prove which sides of trees matches come from, and to triangulate matching segments to specific ancestors. In other words, working from the present back in time. The peach match and line above.
- Adoptees and parent searches where testers hope to find a parent or siblings, but failing that, close relatives whose trees overlap with each other – pointing to a descendant as a candidate for a parent. These people work forward in time and aren’t interested in triangulation or proving ancestors and really don’t care about any of those types of tools, at least not until they identify their parent. This is the blue match above.
What these various groups of testers want and need, and therefore their priorities are different in terms of their recommendations and comments in online forums and their input to vendors. Therefore, you find Facebook groups dedicated to Adoptees, for example, but you also find adoptees in more general genetic genealogy groups where genealogists are sometimes surprised when people focused on parent searches downplay or dismiss tools such as Y DNA, mitochondrial DNA and chromosome browsers that form the bedrock foundation of what genealogists need and require.
Fortunately, there’s room for everyone in this emerging field.
The great news is that educational opportunities are abundant now. I’m listing a few of the educational opportunities for all three groups of testers, in addition to my blog of course.😊
Remember that this blog is fully searchable by keyword or phrase in the little search box in the upper right hand corner. I see so many questions online that I’ve already answered!
Please feel free to share links of my blog postings with anyone who might benefit!
Note that these recommendations below overlap and people may well be interested in opportunities from each group – or all!!
Adoptees or Parent Search
2018 – What’s Ahead?
About midyear 2018, this blog will reach 1000 published articles. This is article number 939. That’s amazing even to me! When I created this blog in July of 2012, I wasn’t sure I’d have enough to write about. That certainly has changed.
Beginning shortly, the tsunami of kits that were purchased during the holidays will begin producing matches, be it through DNA upgrades at Family Tree DNA, Big Y tests which were hot at year end, or new purchases through any of the vendors. I can hardly wait, and I have my list of brick walls that need to fall.
Family Tree DNA will be providing additional STR markers extracted from the Big Y test. These won’t replace any of the 111 markers offered separately today, because the extraction through NGS testing is not as reliable as direct STR testing for those markers, but the Big Y will offer genealogists a few hundred more STRs to utilize. Yes, I said a few hundred. The exact number has not yet been finalized.
Family Tree DNA says they will also be introducing new “qualify of life improvements” along with new privacy and consent settings. Let’s hope this means new features and tools will be released too.
MyHeritage says that they are introducing new “Discoveries” pages and a chromosome browser in January. They have also indicated that they are working on their matching issues. The chromosome browser is particularly good news, but matching must work accurately or the chromosome browser will show erroneous information. Let’s hope January brings all three features.
LivingDNA indicates that they will be introducing matching in 2018.
2018 – What Can You Do?
What can you do in 2018 to improve your odds of solving genealogy questions?
- Test relatives
- Transfer your results to as many data bases as possible (among the ones discussed above, after reading the terms and conditions, of course)
- If you have transferred a version of your DNA that does not produce full results, such as the Ancestry V2 or 23andMe V4 test to Family Tree DNA, consider testing on the vendor’s own chip in order to obtain all matches, not just the closest matches available from an incompatible test transfer.
- Test Y and mitochondrial DNA at Family Tree DNA.
- Find ways to share the stories of your ancestors. Stories are cousin bait. My 52 Ancestors series is living proof. People find the stories and often have additional facts, information or even photos. Some contacts qualify for DNA testing for Y or mtDNA lines. The GREAT NEWS is that Amy Johnson Crow is resuming the #52Ancestors project for 2018, providing hints and tips each week! Who knows what you might discover by sharing?! Here’s how to start a blog if you need some assistance. It’s easy – really!
- Focus on the brick walls that you want to crumble and then put together both a test and analysis plan. That plan could include such things as:
o Find out if a male representing a Y line in your tree has tested, and if not, search through autosomal results to see if a male from that paternal surname line has tested and would be amenable to an upgrade.
o Mitochondrial DNA test people who descend through all females from various female ancestors in order to determine their origins. Y and mtDNA tests are an important part of a complete genealogy story – meaning the reasonably exhaustive search!
o Autosomal DNA test family members from various lines with the hope that matches will match you and them both.
o Test family members in order to confirm a particular ancestor – preferably people who descend from another child of that ancestor.
o Making sure your own DNA is in all 4 of the major vendors’ data bases, plus GedMatch. Look at it this way, everyone who is at GedMatch or at a third party (non-testing) site had to have tested at one of the major 4 vendors – so if you are in all of the vendor’s data bases, plus GedMatch, you’re covered.
Have a wonderful New Year and let’s make 2018 the year of newly discovered ancestors and solved mysteries!
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