Tenth Annual Family Tree DNA Conference Wrapup

baber summary

This slide, by Robert Baber, pretty well sums up our group obsession and what we focus on every year at the Family Tree DNA administrator’s conference in Houston, Texas.

Getting to Houston, this year, was a whole lot easier than getting out of Houston. They had storms yesterday and many of us spent the entire day becoming intimately familiar with the airport.  Jennifer Zinck, of Ancestor Central, is still there today and doesn’t have a flight until late.

And this is how my day ended, after I finally got out of Houston and into my home airport. This isn’t at the airport, by the way.  Everything was fine there, but I made the apparent error of stopping at a Starbucks on the way home.  This is the parking lot outside an hour or so later.  What can I say?  At least I had my coffee, and AAA rocks, as did the tow truck driver and my daughter for getting out of bed to come and rescue me!!!  Hmmm, I think maybe things have gone full circle.  I remember when I used to go and rescue her:)

jeep tow

So far, today hasn’t improved any, so let’s talk about something much more pleasant…the conference itself.

Resources

One of the reasons I mentioned Jennifer Zinck, aside from the fact that she’s still stuck in the airport, is because she did a great job actually covering the conference as it happened. Since I had some time yesterday to visit with her since our gates weren’t terribly far apart, I asked her how she got that done.  I took notes too, and photos, but she turned out a prodigious amount of work in a very short time.  While I took a lightweight MacBook Air, she took her regular PC that she is used to typing on, and she literally transcribed as the sessions were occurring.  She just added her photos later, and since she was working on a platform that she was familiar with, she could crop and make the other adjustments you never see but we perform behind the scenes before publishing a photo.

On the other hand, I struggled with a keyboard that works differently and is a different size than I’m used to as well as not being familiar with the photo tools to reduce the size of pictures, so I just took rough notes and wrote the balance later.  Having familiar tools make such a difference.  I think I’ll carry my laptop from now on, even though it is much heavier.  Kudos to Jennifer!

I was initially going to summarize each session, but since Jen did such a good job, I’m posting her links. No need to recreate a wheel that doesn’t need to be recreated.

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy/

ISOGG, the International Society of Genetic Genealogy is not affiliated with Family Tree DNA or any testing company, but Family Tree DNA is generous enough to allow an ISOGG meeting on Sunday before the first conference session.

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-isogg-meeting/

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-sunday/

You can find my conference postings here:

http://dna-explained.com/2014/10/11/tenth-annual-family-tree-dna-conference-opening-reception/

http://dna-explained.com/2014/10/12/tenth-annual-family-tree-dna-conference-day-2/

http://dna-explained.com/2014/10/13/tenth-annual-family-tree-dna-conference-day-3/

Several people were also posting on a twitter feed as well.

https://twitter.com/search?q=%23FTDNA2014&src=tyah

Those of you where are members of the ISOGG Yahoo group for project administrators can view photos posted by Katherine Borges in that group and there are also some postings on the Facebook ISOGG group as well.

Now that you have the links for the summaries, what I’d like to do is to discuss some of the aspects I found the most interesting.

The Mix

When I attended my first conference 10 years ago, I somehow thought that for the most part, the same group of people would be at the conferences every year. Some were, and in fact, a handful of the 160+ people attending this conference have attended all 10 conferences.  I know of two others for certain, but there were maybe another 3 or so who stood up when Bennett asked for everyone who had been present at all 10 conferences to stand.

Doug Mumma, the very first project administrator was with us this weekend, and still going strong. Now, if Doug and I could just figure out how we’re related…

Some of the original conference group has passed on to the other side where I’m firmly convinced that one of your rewards is that you get to see all of those dead ends of your tree. If we’re lucky, we get to meet them as well and ask all of those questions we have on this side.  We remember our friends fondly, and their departure sadly, but they enriched us while they were here and their memories make us smile.  I’m thinking specifically of Kenny Hedgepath and Leon Little as I write this, but there have been others as well.

The definition of a community is that people come and go, births, deaths and moves.

This year, about half of the attendees had never attended a conference before. I was very pleased to see this turn of events – because in order to survive, we do need new people who are as crazy as we are…er….I mean as dedicated as we are.

isogg reception

ISOGG traditionally hosts a potluck reception on Saturday evening. Lots of putting names with faces going on here.

Collaboration

I asked people about their favorite part of the conference or their favorite session. I was surprised at the number of people who said lunches and dinners.  Trust me, the food wasn’t that wonderful, so I asked them to elaborate.  In essence, the most valuable aspect of the conference was working with and talking to other administrators.

bar talk

It’s not like we don’t talk online, but there is somehow a difference between online communications and having a group discussion, or a one-on-one discussion. Laptops were out and in use everyplace, along with iPads and other tools.  It was so much fun to walk by tables and hear snippets of conversations like “the mutation at location 309.1….” and “null marker at 425” and “I ordered a kit for my great uncle…..”

I agree, as well. I had pre-arranged two dinners before arriving in order to talk with people with whom I share specific interests.  At lunches, I either tried to sit with someone I specifically needed to talk to, or I tried to meet someone new.

I also asked people about their specific goals for the next year. Some people had a particular goal in mind, such as a specific brick wall that needs focus.  Some, given that we are administrators, had wider-ranging project based goals, like Big Y testing certain family groups, and a surprising number had the goal of better utilizing the autosomal results.

Perhaps that’s why there were two autosomal sessions, an introduction by Jim Bartlett and then Tim Janzen’s more advanced session.

Autosomal DNA Results

jim bartlett

Note the cool double helix light fixture behind the speakers.

tim janzen

Tim specifically mentioned two misconceptions which I run across constantly.

Misconception 1 – A common surname means that’s how you match.  Just because you find a common surname doesn’t mean that’s your DNA match.  This belief is particularly prevalent in the group of people who test at Ancestry.com.

Misconception 2 – Your common ancestor has to be within the past 6 generations.  Not true, many matches can be 6-10th cousins because there are so many descendants of those early ancestors, even as many as 15 generations back.

Tim also mentioned that endogamous relationships are a tough problem with no easy answer. Polynesians, Ashkenazi Jews, Low German Mennonites, Acadians, Amish, and island populations.  Do I ever agree with him!  I have Brethren, Mennonite and Acadian in the same parent’s line.

Tim has been working with the Mennonite DNA project now for many years.

Tim included a great resource slide.

tim slide1

Tim has graciously made his entire presentation available for download.

tim slide2

There are probably a dozen or so of us that are actively mapping our ancestors, and a huge backlog of people who would like to. As Tim pointed out with one of his slides, this is not an easy task nor is it for the people who simply want to receive “an answer.”

tim slide3

I will also add that we “mappers” are working with and actively encouraging Family Tree DNA to develop tools so that the mapping is less spreadsheet manual work and more automated, because it certainly can be.

Upload GEDCOM Files

If you haven’t already, upload your GEDCOM to Family Tree DNA.  This is becoming an essential part of autosomal matching.  Furthermore, Family Tree DNA will utilize this file to construct your surname list and that will help immensely determining common surnames and your common ancestor with your Family Finder matches.  If you have sponsored tests for cousins, then upload a GEDCOM file for them or at least construct a basic tree on their Family Tree DNA page.

Ethics

Family Tree DNA always tries to provide a speaker about ethics, and the only speakers I’ve ever felt understood anything about what we want to do are Judy Russell and Blaine Bettinger.  I was glad to see Blaine presenting this year.

blaine bettinger

The essence of Blaine’s speech is that ethics isn’t about law. Law is cut and dried.  Ethics isn’t, and there are no ethics police.

Sometimes our decisions are colored necessarily by right and wrong.  Sometimes those decisions are more about the difference between a better and a worse way.

As a community, we want to reduce negative press coverage and increase positive coverage. We want to be proactive, not reactive.

Blaine stresses that while informed consent is crucial, that DNA doesn’t reveal secrets that aren’t also revealed by other genealogical forms of research. DNA often reveals more recent secrets, such as adoptions and NPEs, so it’s possibly more sensitive.

Two things need to govern our behavior. First, we need to do only things that we would be comfortable seeing above the fold in the New York Times.  Second, understand that we can’t make promises about topics like anonymity or about the absence of medical information, because we don’t know what we don’t know.

The SNP Tsunami

One of my concerns has been and remains the huge number of new SNPs that have been discovered over the past year or so with the Big Y by Family Tree DNA and  corresponding tests from other vendors.

When I say concern, I’m thrilled about this new technology and the advances it is allowing us to make as a community to discover and define the evolution of haplogroups. My concern is that the amount of data is overwhelming.  However, we are working through that, thanks to the hours and hours of volunteer work by haplogroup administrators and others.

Alice Fairhurst, who volunteers to maintain the ISOGG haplotree, mentioned that she has added over 10,000 SNPs to the Y tree this year alone, bringing the total to over 14,000. Those SNPs are fully vetted and placed.  There are many more in process and yet more still being discovered.  On the first page of the Y SNP tree, the list of SNP sources and other critical information, such as the criteria for a SNP to be listed, is provided.

isogg tree3

isogg snps

isogg snps 2014

So, if you’re waiting for that next haplotree poster, give it up because there isn’t a printing press that big, unless you want wallpaper.

isogg new development 2014

These slides are from Alice’s presentation. The ISOGG tree provides an invaluable resource for not only the genetic genealogy community, but also researchers world-wide.

As one example of how the SNP tsunami has affected the Y tree, Alice provided the following summary of R-U106, one of the two major branches of haplogroup R.

From the ISOGG 2006 Y tree, this was the entire haplogroup R Y tree. You can see U106 near the bottom with 3 sub-branches.  While this probably makes you chuckle today, remember that 2006 was only 8 years ago and that this tree didn’t change much for several years.

2006 entire tree

2007 was the same.

2008 u106 tree

2008 shows 5 subclades and one of the subclades had 2 subclades.

2009 u106 tree

2009 showed a total of 12 sub-branches and 2010 added one more.

2011 however, showed a large change. U106 in 2011 had 44 subgroups total and became too large to show on one screen shot.  2012 shows 99 subclades, if I counted accurately.  The 2014 U106 tree is shown below.

before big y

after big y

u106 now

u106 now2

There’s another slide too, but I didn’t manage to get the picture.  You get the idea though…

As you can imagine, for Family Tree DNA, trying to keep up with all of the haplogroups, not just one subgroup like U106 is a gargantuan task that is constantly changing, like hourly. Their Y tree is currently the National Geographic tree, and while they would like to update it, I’m sure, the definition of “current tree” is in a constant state of flux.  Literally, Mike Walsh, one of the admins in the R-L21 group uploads a new tree spreadsheet several times every day.

In order to deal attempt to deal with this, and to encourage people who don’t want to do a Big Y discovery type test, but do want to ferret out their location on their assigned portion of the tree, Family Tree DNA is reintroducing the Backbone tests.

They are starting with M222, also known as the Niall of the 9 Hostages haplogroup which is their beta for the new product and new process. You can see the provisional tree and results in the two slides they provided, below.  I apologize for the quality, but it was the best I could do.

M222

m222 pie

Haplogroup administrators are going to be heavily involved in this process. Family Tree DNA is putting SNP panels together that will help further define the tree and where various SNPs that have been recently discovered, and continue to be discovered, will fall on the tree.

As Big Y tests arrive, haplogroup project administrators typically assemble a spreadsheet of the SNPS and provisionally where they fall on the tree, based on the Big Y results.

What Bennett asked is for the admins to work with Family Tree DNA to assemble a testing panel based on those results. The goal is for the cost to be between $1.50 and $2 (US) for each SNP in the panel, which will reduce the one-off SNP testing and provide a much more complete and productive result at a far reduced price as compared to the current $29 or $39 per individual SNP.

If you are a haplogroup administrator, get in touch with Family Tree DNA to discuss your desired backbone panels. New panels, when it’s your turn, will take about 2 weeks to develop.

Keep in mind that the following SNPs, according to Bennett, are not optimal for panels:

  • Palindromic regions
  • Often mutating regions designated as .1, .2, etc.
  • SNPs in STRs

Nir Leibovich, the Chief Business Officer, also addressed the future and the Big Y to some extent in his presentation.

nir leibovich

ftdna future 2014

Utilizing the Big Y for Genealogy

In my case, during the last sale, I ordered several Big Y tests for my Estes family line because I have several genealogically documented lines from the original Estes family in Kent, England through our common ancestor, Robert Estes born in 1555 and his wife Anne Woodward. The participants also agreed to extend their markers to 111 markers as well.  When the results are back, we’ll be able to compare them on a full STR marker set, and also their SNPs.  Hopefully, they will match on their known SNPs and there will be some new novel variants that will be able to suffice as line marker mutations.

We need more BIG Y tests of these types of genealogically confirmed trees that have different sons’ lines from a distant common ancestor to test descendant lines. This will help immensely to determine the actual, not imputed, SNP mutation rate and allow us to extrapolate the ages of haplogroups more accurately.  Of course, it also goes without saying that it helps to flesh out the trees.

I personally expect the next couple of years will be major years of discovery. Yes, the SNP tsumani has hit land, but it’s far from over.

Research and Development

David Mittleman, Chief Scientific Officer, mentioned that Family Tree DNA now has their own R&D division where they are focused on how to best analyze data. They have been collaborating with other scientists.  A haplogroup G1 paper will be published shortly which states that SNP mutation rates equate to Sanger data.

FTDNA wants to get Big Y data into the public domain. They have set up consent for this to be done by uploading into NCBI.  Initially they sent a survey to a few people that  sampled the interest level.  Those who were interested received a release document.  If you are interested in allowing FTDNA to utilize your DNA for research, be it mitochondrial, Y or autosomal, please send them an e-mail stating such.

Don’t Forget About Y Genealogy Research

It’s very easy for us to get excited about the research and discovery aspect of DNA – and the new SNPs and extending haplotrees back in time as far as possible, but sometimes I get concerned that we are forgetting about the reason we began doing genetic genealogy in the first place.

Robert Baber’s presentation discussed the process of how to reconstruct a tree utilizing both genealogy and DNA results. It’s important to remember that the reason most of our participants test is to find their ancestors, not, primarily, to participate in the scientific process.

Robert baber

edward baber

Robert has succeeded in reconstructing 110 or 111 markers of the oldest known Baber ancestor, shown above. I wrote about how to do this in my article titled, Triangulation for Y DNA.

Not only does this allow us to compare everyone with the ancestor’s DNA, it also provides us with a tool to fit individuals who don’t know specific genealogical line into the tree relatively accurately. When I say relatively, the accuracy is based on line marker mutations that have, or haven’t, happened within that particular family.

Jim illustrated how to do this as well, and his methodology is available at the link on his slide, below.

baber method

I had to laugh. I’ve often wondered what our ancestors would think of us today.  Robert said that that 11 generations after Edward Baber died, he flew over church where Edward was buried and wondered what Edward would have thought about what we know and do today – cars, airplanes, DNA, radio, TV etc..  If someone looked in a crystal ball and told Edward what the future held 11 generations later, he would have thought that they were stark raving mad.

Eleven generations from my birth is roughly the year 2280. I’m betting we won’t be trying to figure out who our ancestors were through this type of DNA analysis then.  This is only a tiny stepping stone to an unknown world, as different to us as our world is to Edward Baber and all of our ancestors who lived in a time where we know their names but their lives and culture are entirely foreign to ours.

Publications

When the Journal of Genetic Genealogy was active, I, along with other citizen scientists published regularly.  The benefit of the journal was that it was peer reviewed and that assured some level of accuracy and because of that, credibility, and it was viewed by the scientific community as such.  My co-authored works published in JOGG as well as others have been cited by experts in the academic community.  It other words, it was a very valuable journal.  Sadly, it has fallen by the wayside and nothing has been published since 2011.  A new editor was recruited, but given their academic load, they have not stepped up to the plate.  For the record, I am still hopeful for a resurrection, but in the mean time, another opportunity has become available for genetic genealogists.

Brad Larkin has founded the Surname DNA Journal, which, like JOGG, is free to both authors and subscribers. In case you weren’t aware, most academic journal’s aren’t.  While this isn’t a large burden for a university, fees ranging from just over $1000 to $5000 are beyond the budget of genetic genealogists.  Just think of how many DNA tests one could purchase with that money.

brad larkin

surname dna journal

Brad has issued a call for papers. These papers will be peer reviewed, similarly to how they were reviewed for JOGG.

call for papers

Take a look at the articles published in this past year, since the founding of Surname DNA Journal.

The citizen science community needs an avenue to publish and share. Peer reviewed journals provide us with another level of credibility for our work. Sharing is clearly the lynchpin of genetic genealogy, as it is with traditional genealogy. Give some thought about what you might be able to contribute.

Brad Larkin solicited nominations prior to the conference and awarded a Genetic Genealogist of the Year award. This year’s award was dually presented to Ian Kennedy in Australia, who, unfortunately, was not present, and to CeCe Moore, who just happened to follow Brad’s presentation with her own.

Don’t Forget about Mitochondrial DNA Either

I believe that mitochondrial DNA the most underutilized DNA tool that we have, often because how to use mitochondrial DNA, and what it can tell you, is poorly understood. I wrote about this in an article titled, Mitochondrial, The Maligned DNA.

Given that I work with mitochondrial DNA daily when I’m preparing client’s Personalized DNA Reports (orderable from your personal page at Family Tree DNA or directly from my website), I know just how useful mitochondrial can be and see those examples regularly. Unfortunately, because these are client reports, I can’t write about them publicly.

CeCe Moore, however, isn’t constrained by this problem, because one of the ways she contributes to genetic genealogy is by working with the television community, in particular Genealogy Roadshow and the PBS series, Finding Your Roots. Now, I must admit, I was very surprised to see CeCe scheduled to speak about mitochondrial DNA, because the area of expertise where she is best known is autosomal DNA, especially in conjunction with adoptee research.

cece moore

cece mtdna

During the research for the production of these shows, CeCe has utilized mitochondrial DNA with multiple celebrities to provide information such as the ethnic identification of the ancestor who provided the mitochondrial DNA as Native American.

Autosomal DNA testing has a broad but shallow reach, across all of your lines, but just back a few generations.  Both Y and mitochondrial DNA have a very deep reach, but only on one specific line, which makes them excellent for identifying a common ancestor on that line, as well as the ethnicity of that individual.

I have seen other cases, where researchers connected the dots between people where no paper trail existed, but a relationship between women was suspected.

CeCe mentioned that currently there are only 44,000 full sequence results in the Family Tree DNA data base and and 185K total HVR1, HVR2 and full sequence tests. Y has half a million.  We need to increase the data base, which, of course increases matches and makes everyone happier.  If you haven’t tested your mitochondrial DNA to the full sequence level, this would be a great time!

There are several lessons on how to utilize mitochondrial DNA at this ISOGG link.

I’m very hopeful that CeCe’s presentation will be made available as I think her examples are quite powerful and will serve to inspire people.  Actually, since CeCe is in the “movie business,” perhaps a short video clip could be made available on the FTDNA website for anyone who hasn’t tested their mitochondrial DNA so they can see an example of why they should!

myOrigins

I would be fibbing to you if I told you I am happy with myOrigins. I don’t feel that it is as sensitive as other methods for picking up minority admixture, in particular, Native American, especially in small amounts.  Unfortunately, those small amounts are exactly what many people are looking for.

If someone has a great-great-great-great grandparent that is Native, they carry about 1%, more or less, of the Native ancestor’s DNA today. A 4X great grandparent puts their birth year in the range of 1800-1825 – or just before the Trail of Tears.  People whose colonial American families intermarried with Native families did so, generally, before the Trail of Tears.  By that time, many tribes were already culturally extinct and those east of the Mississippi that weren’t extinct were fighting for their lives, both literally and figuratively.

We really need the ability to develop the most sensitive testing to report even the smallest amounts of Native DNA and map those segments to our chromosomes so that we can determine who, and what line in our family, was Native.

I know that Family Tree DNA is looking to improve their products, and I provided this feedback to them. Many people test autosomally only for their ethnicity results and I surely would love to have those people’s results available as matches in the FTDNA data base.

Razib Khan has been working with Family Tree DNA on their myOrigins product and spoke about how the myOrigins data is obtained.

razib kahn

my origins pieces

Given that all humans are related, one way or another, far enough back in time, myOrigins has to be able to differentiate between groups that may not be terribly different. Furthermore, even groups that appear different today may not have been historically.  His own family, from India, has no oral history of coming from the East, but the genetic data clearly indicates that they did, along with a larger group, about 1000 years ago.  This may well be a result of the adage that history is written by the victors, or maybe whatever happened was simply too long ago or unremarkable to be recorded.

Razib mentioned that depending on the cluster and the reference samples, that these clusters and groups that we see on our myOrigins maps can range from 1000-10,000 years in age.

relatedness of clusters

The good news is that genetics is blind to any preconceived notions. The bad news is that the software has to fit your results to the best population, even though it may not be directly a fit.  Hopefully, as we have more and better reference populations, the results will improve as well.

my origin components

pca chart

Razib showed a PCA (principal components analysis) graph, above. These graphs chart reference populations in different quadrants.  Where the different populations overlap is where they share common historic ancestors.  As you can see, on this graph with these reference populations, there is a lot of overlap in some cases, and none in others.

Your personal results would then be plotted on top of the reference populations. The graph below shows me, as the white “target” on a PCA graph created by Doug McDonald.

my pca chart

The Changing Landscape

A topic discussed privately among the group, and primarily among the bloggers, is the changing landscape of genetic genealogy over the past year or so.  In many ways I think the bloggers are the canaries in the mine.

One thing that clearly happened is that the proverbial tipping point occurred, and we’re past it. DNA someplace along the line became mainstream.  Today, DNA is a household word.  At gatherings, at least someone has tested, and most people have heard about DNA testing for genealogy or at least consumer based DNA testing.

The good news in all of this is that more and more people are testing. The bad news is that they are typically less informed and are often impulse purchasers.  This gives us the opportunity for many more matches and to work with new people.  It also means there is a steep learning curve and those new testers often know little about their genealogy.  Those of us in the “public eye,” so to speak, have seen an exponential spike in questions and communications in the past several months.  Unfortunately, many of the new people don’t even attempt to help themselves before asking questions.

Sometimes opportunity comes with work clothes – for them and us both.

I was talking with Spencer about this at the reception and he told me I was stealing his presentation.  He didn’t seem too upset by this:)

spencer and me

I had to laugh, because this falls clearly into the “be careful what you wish for, you may get it” category. The Genographic project through National Geographic is clearly, very clearly, a critical component of the tipping point, and this was reflected in Spencer’s presentation.  Although I covered quite a bit of Spencer’s presentation in my day 2 summary, I want to close with Spencer here.  I also want to say that if you ever have the opportunity to hear Spencer speak, please do yourself the favor and be sure to take that opportunity.  Not only is he brilliant, he’s interesting, likeable and very approachable.  Of course, it probably doesn’t hurt that I’ve know him now for 9 years!  I’ve never thought to have my picture taken with Spencer before, but this time, one of my friends did me the favor.

I have to admit, I love talking to Spencer, and listening to him. He is the adventurer through whom we all live vicariously.  In the photo below, Spencer along with his crew, drove from London to Mongolia.  Not sure why he is standing on the top of the Land Rover, but I’m sure he will tell us in his upcoming book about that journey,

spencer on roof

I’m warning you all now, if I win the lottery, I’m going on the world tour that he hosts with National Geographic, and of course, you’ll all be coming with me via the blog!

Spencer talked about the consumer genomics market and where we are today.

spencer genomics

Spencer mentioned that genetic genealogy was a cottage industry originally. It was, and it was even smaller than that, if possible.  It actually was started by Bennett and his cell phone.  I managed to snap a picture of Bennett this weekend on the stage looking at his cell, and I thought to myself, “this is how it all started 14 years ago.”  Just look where we are today.  Thank you Michael Hammer for telling Bennett that you received “lots of phone calls from crazy genealogists like you.”

bennett first office

So, where exactly are we today?  In 2013, the industry crossed the millionth kit line.  The second millionth kit was sold in early summer 2014 and the third million will be sold in 2015.  No wonder we feel like a tidal wave has hit.  It has.

Why now?

DNA has become part of national consciousness.  Businesses advertise that “it’s in our DNA.”  People are now comfortable sharing via social media like facebook and twitter.  What DNA can do and show you, the secrets it can unlock is spreading by word of mouth.  Spencer termed this the “viral spread threshold” and we’ve crossed that invisible line in the sand.  He terms 2013 as the year of infection and based on my blog postings, subscriptions, hits, reach and the number of e-mails I receive, I would completely agree.  Hold on tight for the ride!

Spencer talked about predictions for near term future and said a 5 year plan is impossible and that an 18 month plan is more realistic. He predicts that we will continue to see exponential growth over the next several years.  He feels that genetic genealogy testing will be primary driver of growth because medical or health testing is subject to the clinical utility trap being experienced currently by 23andMe.  The Big 4 testing companies control 99% of consumer market in US (Ancestry, 23andMe, Family Tree DNA and National Geographic.)

Spencer sees a huge international market potential that is not currently being tapped. I do agree with him, but many in European countries are hesitant, and in some places, like France, DNA testing that might expose paternity is illegal.  When Europeans see DNA testing as a genealogical tool, he feels they will become more interested.  Most Europeans know where their ancestral village is, or they think they do, so it doesn’t have the draw for them that it does for some of us.

Ancestry testing (aka genetic genealogy as opposed to health testing) is now a mature industry with 100% growth rate.

Spencer also mentioned that while the Genographic data base is not open access, that affiliate researchers can send Nat Geo a proposal and thereby gain research access to the data base if their proposal is approved. This extends to citizen scientists as well.

spencer near term

Michael Hammer

You’ll notice that Michael Hammer’s presentation, “Ancient and Modern DNA Update, How Many Ancestral Populations for Europe,” is missing from this wrapup. It was absolutely outstanding, and fascinating, which is why I’m writing a separate article about his presentation in conjunction with some additional information.  So, stay tuned.

Testing, More Testing

It’s becoming quite obvious that the people who are doing the best with genetic genealogy are the ones who are testing the most family members, both close and distant. That provides them with a solid foundation for comparison and better ways to “drop matches” into the right ancestor box.  For example, if someone matches you and your mother’s sister, Aunt Margaret, especially if your mother is not available to test, that’s a very important hint that your match is likely from your mother’s line.

So, in essence, while initially we would advise people to test the oldest person in a generational line, now we’ve moved to the “test everyone” mentality.  Instead of a survey, now we need a census.  The exception might be that the “child” does not necessarily need to be tested because both parents have tested.  However, having said that, I would perhaps not make that child’s test a priority, but I would eventually test that child anyway.  Why?  Because that’s how we learn.  Let me give you an example.

I was sitting at lunch with David Pike. were discussing autosomal DNA generational transmission and inheritance.  He pulled out his iPad, passed it to me, and showed me a chromosome (not the X) that has been passed entirely intact from one generation to the next.  Had the child not been tested, we would never have known that.  Now, of course, if you’ll remember the 50% rule, by statistical prediction, the child should get half of the mother’s chromosome and half of the father’s, but that’s not how it worked.  So, because we don’t know what we don’t know, I’m now testing everyone I can find and convince in my family.  Unfortunately, my family is small.

Full genome testing is in the future, but we’re not ready yet. Several presenters mentioned full genome testing in some context.  Here’s the bottom line.  It’s not truly full genome testing today, only 95-96%.  The technology isn’t there yet, and we’re still learning.  In a couple of years, we will have the entire genome available for testing, and over time, the prices will fall.  Keep in mind that most of our genome is identical to that of all humans, and the autosomal tests today have been developed in order to measure what is different and therefore useful genealogially.  I don’t expect big breakthroughs due to full genome testing for genetic genealogy, although I could be wrong.  You can, however, count me in, because I’m a DNA junkie.  When the full genome test is below $1000, when we have comparison tools and when the coverage won’t necessitate doing a second or upgrade test a few years later, I’ll be there.

Thank you

I want to offer a heartfelt thank you to Max Blankfeld and Bennett Grenspan, founders of Family Tree DNA, shown with me in the photo below, for hosting and subsidizing the administrator’s conference – now for a decade. I look forward to seeing them, and all of the other attendees, next year.

I anticipate that this next decade will see many new discoveries resulting in tools that make our genealogy walls fall.  I can’t help but wonder what the article I’ll be writing on the 20th anniversary looking back at nearly a quarter century of genetic genealogy will say!

roberta, max and bennett

10 Things to Do With Your DNAPrint, renamed AncestrybyDNA, Test

birdcage

Please note, AncestrybyDNA is NOT the same as the AncestryDNA test sold by Ancestry.com.  Both CeCe Moore and David Dowell have written about this in their respective blogs.

Back in 2002 (no, that is not a typo,) a new product called DNAPrint was introduced by a company then called DNAPrint Genomics.  It provided you, in percentages, your percentages of 4 ethnic groups: Indo-European, East-Asian, Native American and African.  Family Tree DNA remarketed this test for just over a year but ceased when they realized there were issues.

It was the first of its kind of test ever to be offered commercially, and version 2.0 utilized a whopping 71 ancestrally informative markers, according to the user’s guide delivered with the product.  The next version of the test, 2.5, titled AncestrybyDNA included 175 markers, and a third version, which I don’t believe was ever released, was to include just over 300 markers.

In 2002, this was a baby step in a brand new world.  We, as a community, were thrilled to be able to obtain this type of information.  And of course, we believed it was accurate, or relatively so.  However, the questions and ensuing debate started almost immediately and became very heated.

The company’s representatives indicated that East-Asian and Native American could be combined for those without a “Chinese grandpa” and that would have given me a whopping 25% Native American.  Even then, before pedigree analysis, I thought this was a little high.  My East Asian was shown as 15%, Native American at 10% and Indo-European at 75%.  For reference, my real Native results are probably in the 1-3% range.  Keep in mind that we were all babes in the woods, kind of stumbling around, learning, in 2002 and 2003.

Interestingly enough, I found the answer recently, quite by accident, to one of the burning questions about Native American ancestry that was asked repeatedly of Tony Frudakis during that timeframe, then a corporate officer of DNAPrint, and left unanswered.  In Carolyn Abraham’s book, The Juggler’s Children, which is a wonderful read, on page 55, the answer to the forever-hanging question was answered:

“When I finally reached Frudakis, that’s how he explained the confusion over our Native ancestry result – semantics.  The Florida company had pegged its markers as being Native American to appeal to the American market, he told me.  But it was accurate to consider them Central Asian markers, he said, that had been carried to different regions by those who migrated from that part of the globe long ago – into the Americas, into East Asia, South Asia and even southern Europe – finding their way into today’s Greeks, Italians and Turks.  ‘We may do ourselves a favour and change the name of this ancestry [component] in the test,’ he said, since apparently I wasn’t the only one baffled by it.”

So, now we know, straight from the horses mouth, via Carolyn.

Of course, since that time, many advances have occurred in this field.  Today, Family Tree DNA, 23andMe, Ancestry.com and the Genographic Project utilize chip based technology and utilize over half a million markers to achieve ethnicity predictions.  If DNAPrint, renamed AncestybyDNA was the first baby step, today we are teenagers – trying to refine our identity.  Today’s tests, although not totally accurate, are, by far, more accurate than this first baby step.  Give us another dozen years in this industry, and they’ll be spot on!

For 2003, when I ordered mine, DNAPrint was an adventure – it was exciting – it was a first step – and we learned a lot.  Unfortunately, DNAPrint under the name AncestrybyDNA is still being sold today, currently owned by the DNA Diagnostics Center.  If you are even thinking about ordering this product, take a look first at the Yelp reviews and the Better Business Bureau complaints.

I don’t regret spending the money in 2003.  Spending money on this outdated test today would be another story entirely – a total waste.  The results are entirely irrelevant today in light of the newer and more refined technology.  Unfortunately, seldom a week goes by that I don’t receive an e-mail from someone who bought this test and are quite confused and unhappy.  The test has been marketed and remarketed by a number of companies over the years.

So, here are some suggestions about what might be appropriate to do with your DNAPrint or AncestybyDNA results if you don’t want to just throw them away:

  1. Line the bottom of the birdcage.
  2. Use to light the BBQ grill or camp fire.
  3. Use under boots in the hallway in the winter.
  4. Shred, then use as confetti.
  5. Cut into strips and use as bookmarks.
  6. Use as scratch paper.
  7. Use in the garden between rows to minimize weeds.
  8. Make into a paper airplane.
  9. Roll, along with other excess paper, into logs for the fireplace.
  10. Frame, and display along with your other antiques.

Yes, it’s really that old and outdated!

Ancestry Kit Mixup

Every genealogists worst nightmare.  A DNA kit swap.  You unknowingly receive the results from someone else, and that equally in-the-dark unknown person receives yours.  And you’ll never know unless you recognize the signs and take action to see if it’s your bad luck or overactive imagination, or the answer really is a kit swap or lab error of some sort.

I’ve just spent three months unraveling this exact situation that occurred at Ancestry.com.  The person to whom this happened would like to share her story with you.  We are hoping that if something similar ever happens to you, that you’ll be able to recognize the signs and know what steps to take to figure out if this indeed has occurred.

Let me also say that a kit swap or similar lab error is really quite rare, and in most other instances when people believe their kits have been swapped, they haven’t been, although this certainly is not the first time this has happened.  CeCe Moore reported on another Ancestry.com case in 2012.

We’ll call the lady Jane. Jane’s father agreed to have his Y DNA tested some years ago at Ancestry.com.  Jane submitted his DNA for him and noticed that he had no matches to his rather common surname.  She didn’t really think anything of it at the time, other than being disappointed.  His haplogroup was estimated by Ancestry to be R1b.

As time went on, she ordered Ancestry.com’s autosomal test too for her father.  Ancestry sent another sampling kit, and her father is receiving matches to people who, at least according to their trees, share common ancestors with her father.

Last year, Jane decided to transfer her father’s Y DNA to Family Tree DNA. The markers from Ancestry.com were transferred, and Jane still didn’t have any surname matches at Family Tree DNA.

Jane then ordered the Geno2.0 test for her father.  The results were returned with haplogroup I, terminal SNP I-L22, which were at odds with Ancestry’s haplogroup R1b estimate.

About the same time, Jane upgraded her father’s STR markers as well, and the haplogroup project administrator noticed that while Jane’s father’s lower panels, meaning the ones tested at Ancestry matched haplogroup R1b, his upper panels didn’t match R1b subgroups at all.

Obviously something was wrong, very wrong, someplace.  But what, and where?  Jane contacted me and asked if I would help unravel this puzzle.

I checked Jane’s father’s page at Family Tree DNA, and when she transferred his Geno 2.0 results to his FTDNA page, apparently the transfer confused the software at FTDNA because his results reported both I-L22 and R-M269 as positive, which is impossible since I-L22 is in haplogroup I, only, and R-M269 is only found in haplogroup R.

ancestry kit swap ftdna snps

Unfortunately, this only added to the confusion.

At this point, I downloaded the raw data file from the Geno 2.0 test and verified that indeed, M269 was absent and L22 was present.

ancestry kit swap raw data

Family Tree DNA, thankfully, stepped up to the plate and ran a SNP test on Jane’s father’s second vial.  That SNP test also came back as positive for haplogroup I, matching the Geno 2.0 results.

Just to be absolutely positive, Family Tree DNA sent Jane’s father a third vial and tested the same markers that Jane had transferred from Ancestry.  You can see for yourself – the results are very different.  The results are unquestionable.  Either there was a kit swap or a lab error of some sort at Ancestry where the wrong markers were posted for Jane’s father’s results.  He has been tested three times, from separate vials, at Family Tree DNA with all of the results providing evidence that the Ancestry results were in error.

Marker Ancestry FTDNA
DYS438 12 10
DYS391 10 11
DYS392 13 11
DYS426 12 11
DYS439 13 11
DYS445 12 11
GGAAT1B07 10 11
DYS444 11 12
DYS446 13 13
DYS462 11 13
Y-GATA-A10 13 13
DYS437 15 16
DYS441 14 16
DYS458 17 16
DYS463 24 21
DYS635 23 21
DYS452 30 31

In an overabundance of caution, Family Tree DNA is going to rerun the entire test, all markers and the backbone SNP, from yet another (fourth) new vial being sent to Jane’s father.  Thank heavens Jane’s father is still available for testing and not entirely discouraged.

Jane is ecstatic, because now, she is actually receiving surname matches and in her father’s words, “we just wanted to know who we are.”  And just in time for Father’s Day!

Signs and Signals

How might you know if a kit swap has happened to you?  As we know, Ancestry has discontinued their Y and mitochondrial DNA testing and will be destroying the data base, so this won’t be an issue at Ancestry with new Y DNA kits, but it could be an issue for results already delivered, like Jane’s, and for autosomal tests.  This is one reason why retesting might not be a bad idea, even though the $19 or $58 Y DNA Ancestry to FTDNA transfer price is quite attractive.  Here are some of the signs that might tip you that there is a problem:

  1. If Y DNA, you don’t receive any surname matches, even to those you believe that you are in related to. This is one of those sticky-wickets, because if you don’t match your first cousin, for example, the most likely situation is that you have an undocumented adoption in one of the lines. My suggestion in this situation is to submit an entirely new test under a new kit number. If your first and second kits match each other, then the answer is the undocumented adoption.
  2. If autosomal DNA, and you have no matches to anyone you believe you should match, especially close relatives, submit your DNA to one of the other three testing companies – Family Tree DNA, 23andMe or Ancestry.com. The approach gives you the benefit of fishing in multiple ponds along with verifying that your results match each other. When you receive the results from both companies, download the raw data files from both to www.gedmatch.com and then match them to each other. They should match almost exactly, although there will be some small differences in terms of areas tested and possibly no-calls – but they should match very closely.

Let’s hope this never happens to anyone else.  The sad thing is that whoever, at Ancestry, received Jane’s father’s Y DNA results likely has no idea they are incorrect.

Thank you Family Tree DNA for going above and beyond to resolve this very distressing situation for Jane and her father.

Family Tree DNA Surpasses the Million Test Mark

Family-Tree-DNA logo

Family Tree DNA, the genetic genealogy arm of Gene by Gene, announced today in a press release that it has processed over 1,000,000 DNA test kits results for genealogy and anthropology purposes.

This historic amount includes Family Tree DNA’s tests as well the processing of public participation samples for National Geographic’s Genographic Projects genetic testing partner.

The million-test milestone was reached this week during the company’s Father’s Day sale, which includes the Family Finder test currently discounted to the price of $79 and the Big Y at $595.  So if you purchased one of these tests this week, you could have been that historic millionth person!

The press release goes on to say:

Family Tree DNA offers the widest range of DNA testing services in the field of genetic genealogy.  The company prides itself on its commitment to the practice of solid, ethical science. Family Tree DNA has the largest database in the world for matching purposes, which means increased chances of finding long lost relatives. In that regard, Family Tree DNA is an important resource for the three million people in the United States who either were adopted or descend from adoptees.

Founded in 2000, Gene By Gene, Ltd. is a CAP-accredited and CLIA-registered genetic testing company that serves consumers, researchers, and physicians. Gene by Gene offers a wide range of regulated clinical diagnostic tests, as well as research use only (RUO) tests. The Family Tree DNA division of Gene by Gene is a pioneer and leader in DNA testing for genealogy and ancestry. The company operates the largest genetic genealogy database in the world and has provided more than 5 million discrete genetic tests.

It seems like only yesterday that I ordered kit 6656, but it was December of 2002, nearly a dozen years ago.  On New Year’s Eve of 2005, right at midnight, I ordered kit 50,000.  The genetic genealogy community was very excited at that milestone as well.  Eight and a half years later, one million.  It took Family Tree DNA 3 years, from 2002 to 2005, to sell 43,000 kits, or about 14,500 kits per year.  Between 2005 and today, they have sold another 950,000 kits, or just over 100,000 per year, on average.

The 5 million number also suggests that the average client has purchased 5 different tests or upgrades, per kit.  In my case, that’s true because I began purchasing when only the HVR region of mtDNA was available, so I’ve upgraded several times and purchased every test or upgrade Family Tree DNA has ever offered.  All in the unquenchable thirst to learn more about my ancestors.

Congratulations Family Tree DNA on this historic and important milestone.  May your second million happen quickly and include a lot of my relatives:)

Big Y and Family Finder Sale, Plus $100 Coupon for Big Y

Family Tree DNA almost always has a Father’s Day sale, and they have just announced this year’s sale.  It’s a good one, especially if combined with a separate special $100 coupon for the Big Y test.

father day sale 2014

Right now, the Father’s Day Sale provides the Family Finder (autosomal) test for $79.  This test is available for everyone to take and provides you with cousin matches from all of your genealogical lines, plus ethnicity estimates.  This is the lowest price I’ve ever seen for this test, or this type of test, at any vendor.

Even more remarkable, is that you’ll be able to purchase the Big Y, not for the $595 listed above, but if you use the special coupon code listed below, you’ll be able to save another $100 and purchase the Big Y for an amazing $495.  The Big Y is an advanced Y DNA test for those clients who have already purchased STR marker testing.

Furthermore, by the time you receive those Bit Y results, the new SNP matching will be in place so you’ll be able to easily see who you match.  Now is the time to begin testing those various family groups to see if there are family-line defining SNPs within groups who match closely on STR markers.

All I can say is WooHoo – brick walls are gonna fall……

Oh, the coupon code – you want the special $100 off coupon code – pardon my excitement – here it is…..FDS140997

Click here to order.

Thank you Family Tree DNA and by the way, Happy Father’s Day!!!

PS – The code above is the code I received because I had previously purchased a Big Y test.  First come, first served.  It can only be utilized once.  If mine has been used, you might contact your project admin to see if there are extra ones within your projects.  Conversely, anyone who has any extra code feel free to post it in the comments.

Bennett Greenspan – The Future of Genetic Genealogy

Bennett SCGA 2014 v2

Bennett Greenspan, one of the founders of Family Tree DNA, spoke about “The Future of Genetic Genealogy” at the Southern California Genealogy Society conference this week.  The SCGS has been gracious enough to provide a video of the livestream.

High points of Bennett’s presentation include:

  1. There will be a new Y SNP matching capability released in the next few days.
  2. “Regulatory issues are larger issues than the science.” Bennett discusses “armwrestling with the FDA.”
  3. If prices of SNP chips that test over 2 million locations don’t drop substantially in the next couple of years, then genealogy testing likely will not utilize the next generation of SNP chip, but will move directly to full genome sequence testing. This may happen in the 3-5 year range but will, for sure in the 5-10 year range.

Bennett talked quite a bit about privacy and what privacy is in this technology era, expectations and how privacy expectations may affect future DNA testing.  Be sure to watch the video. It’s always interesting to hear Bennett, functionally the father of genetic genealogy, speak about this industry and the future.

Ancestry.com Discontinues Y and mtDNA Tests and Closes Data Base

ancestry to ftdna

Ancestry.com has not been actively selling Y and mtDNA tests for some time now.  However, today Ancestry announced the official discontinuance of those tests and that as of September 5th, their Y and mtDNA data bases will also be shuttered – meaning that the results will no longer be accessible for those who tested or for anyone wanting to do a comparison.

This is very sad news indeed for the genetic genealogy community, especially given that Ancestry has in the past purchased other vendors such as Relative Genetics and incorporated their results into their data base.

For anyone who tested their Y DNA with Ancestry, now is the time to transfer those result to the Family Tree DNA data base, now the last vendor left standing who provides those tests along with a comparison data base.  This is easy to do and you can be a part of the Family Tree DNA community, availing yourself of their surname projects for only $19.

If you want to see your matches, you can upgrade your kit from Ancestry’s 33 or 46 markers to Family Tree DNA’s standard markers for another $39 at the same time you transfer your Ancestry results.  This also has the added benefit of having your actual DNA in the lab at Family Tree DNA where it will be archived for 25 years.  I’m already hearing moans from people whose family DNA is only at Ancestry, and the original tester has passed away.

In fact, if you don’t transfer your results from Ancestry now, or before September 5th, you will lose your opportunity as your Y and mtDNA results will no longer be available at Ancestry in any format, according to their FAQ.

Ancestry states that this change does not affect their autosomal DNA testing, and in fact, that’s where they want to focus, at least for now.  Unfortunately, the shuttering of their Y and mtDNA data bases calls into question their commitment to the genetics aspect of the genealogy industry.  Autosomal DNA testing will be a priority as long as it’s profitable, just like Y and mtDNA has turned out to be.

I would suggest while you are transferring, you might also want to take advantage of this opportunity to also transfer your Ancestry autosomal results to Family Tree DNA for $69.  You can fish in a second match pool and Family Tree DNA offers many tools to participants that Ancestry does not offer.

If you’re not inclined to transfer your results to Family Tree DNA, at least avail yourself of the two free data bases, www.ysearch.org for Y results and www.mitosearch.org for mtDNA.  At least your results won’t be entirely lost forever.

I understand that Ancestry doesn’t want to sell the Y and mtDNA products any longer, but I would think that maintaining the current Y and mtDNA data bases in a static state for the tens of thousands of people who have spent a nontrivial amount of money DNA testing, and allowing comparisons, would be well worthwhile in terms of customer loyalty if nothing else.  Customers are viewing this move as abandonment and a betrayal of their trust, and it begs the question of what will eventually happen to autosomal results and matches at Ancestry.  If you’re going to test at Ancestry, make sure you also test at Family Tree DNA so your actual DNA is available there as well.