The Genetic Genealogist

If you’ve ever even thought about testing your own DNA for genealogical purposes, then you are almost guaranteed to have heard of Megan Smolenyak Smolenyak. Megan is the Chief Family Historian and North American spokesperson for Ancestry.com, as well as the co-founder of Roots Television, an online channel of genealogy and history-oriented programming. Additionally, Megan is the co-author of “Trace Your Roots With DNA”, the premiere book on genetic genealogy (the other co-author, Ann Turner, will be featured later in this series).

Megan blogs about genetic genealogy and other genealogical topics at Megan’s Roots World (which I highly recommend adding to your feed reader or daily reading list). In the following interview, Megan talks about her introduction to genetic genealogy, about the field as it stands today, and about some of the possible future directions of DNA testing.

The Genetic Genealogist: How long have you been actively involved in genetic genealogy, and how did you become interested in the field?

Megan Smolenyak Smolenyak: I’ve been an almost lifelong genealogist, but the genetic component entered the picture for me around 1999-2000 thanks to some work I was doing with the U.S. Army. I track down families of soldiers still unaccounted for — mostly from Korea, but also Southeast Asia, WWII and even WWI. It’s my responsibility to locate the next of kin and three mtDNA candidates — in other words, three relatives of the soldier who share the same mtDNA (maternal) line. Because of this, when the first couple of companies launched in 2000, I was one of the first in line simply because I had already had the opportunity to learn the fundamentals of how DNA testing could be used for genealogical purposes.

TGG: Has genetic genealogy helped you break through any of your brick walls or solve a family mystery?

MSS: Definitely. My first experience with genetic genealogy was the Smolenyak tale featured in the “Did She Marry Her Cousin? episode of DNA Stories in the video player on your blog. It turned out my hypothesis was wrong, and although I was initially disappointed, I realized that I had just saved myself years of effort and who knows how much money trying to prove something that was completely false. That’s what made me an early proponent. I realized right out of the gate that DNA can sometimes resolve mysteries that the paper trail never will.

TGG: Lately the news has been filled with stories about the ethical issues associated with genetic testing, largely as a result of the launch of new companies like 23andMe, deCODEme, and Navigenics. How does genetic genealogy factor into this discussion?

MSS: As much as I’d like to claim that we’re a different animal, the fact is that these new companies provide some ancestral information. In fact, there already seems to be slightly greater emphasis on this aspect than when they first launched, perhaps because they’ve realized there’s an existing market. So going forward, it’s virtually inevitable that the general public will intermingle genetic genealogy companies and offerings with these new tests and companies. Overall, I’m delighted with these new possibilities, but I confess there’s a small part of me that’s mourning a loss of innocence of sorts. Strictly genealogical tests didn’t give away your secrets (well, except for the occasional NPE!), so folks could feel quite comfortable taking them. Now, with the addition of medical and other information, people will likely think twice. Having said that, I think we all knew this time was coming and I’m glad to see the field moving forward.

TGG: What do you think the future holds for genetic genealogy?

MSS: My poor little brain can’t fathom all the possibilities, but I believe we’re entering the genomics age. The genetic genie is out of the bottle, so it’s time to buckle our seatbelts and hang on (how’s that for a mixed metaphor?)! I’ve always thought it would be the medical aspects of genetics that would drive things forward in a big way and that’s clearly happening. I can’t even begin to imagine all the ethical issues we’ll all wrestle with, but because of the medical benefits, I think it’s inevitable that genetics will become a routine part of our everyday lives. Just as we have a generation or so that’s grown up taking computers and the internet for granted, I think the same will be true of genetics for those being born now.

What’s especially interesting to me is the public’s involvement in all this. I recently interviewed with a journalist from Le Monde, and remarked that this is the first scientific revolution that will at least be partly driven by public participation. An obvious example of this is impatient genealogists applying pressure on scientists to uncover more ancestrally-informative SNPs. We do this because we want to know more about our roots. Imagine the amplification of this phenomenon when the mass public starts campaigning for specific genetic research for medical conditions that affect their families. And I suspect that the existence of companies like 23andMe will only encourage this kind of (to me, positive!) behavior.

Because genetic genealogy has been around since 2000, I think anyone trying to get a handle on this interplay between the scientific community and the general public would be smart to study us. And yes, genetic genealogists will definitely benefit from all the advances. Remember, it was just circa 2000-2001 that a 4-marker Y-DNA test sold to the public was considered amazing, and now, none of us would waste our time with such a test. We ain’t seen nothing yet!

TGG: Aside from genetic genealogy, what other genealogy-related projects are you involved with?

MSS: Phew! A lot! I already mentioned my work with the U.S. Army, but I’m also the Chief Family Historian and North American spokesperson for Ancestry.com and co-founder of RootsTelevision.com, a free, online channel of genealogical programming. And I write and speak and consult for television programs. Basically, I’m all about getting the g-word out there!

TGG: Thank you, Megan, for this interesting and very enjoyable interview!

Other posts in the TGG Interview Series:

• Interview Series I – Bennett Greenspan of Family Tree DNA

Genetic genealogy has been commercially available since 2000, and in the last 8 years many genealogists have used this new tool to learn about their ancestry. Over the course of the next two weeks, I will be sharing interviews I recently conducted with 9 individuals who have had a huge impact on the field of genetic genealogy. The list includes – in the random order that their interview will appear – Bennett Greenspan, Megan Smolenyak Smolenyak, Terry Barton, Alastair Greenshields, Whit Athey, Ann Turner, Katherine Hope Borges, Max Blankfeld, and Ana Oquendo Pabón.

Just a quick disclaimer about the list of interviewed individuals before I begin this series. Genetic genealogy has become the valuable tool that it is due to the efforts of many people, but I was not able to interview everyone (and some were unable to commit the time to do an interview). I apologize to anyone that should be on the list but isn’t.

Now, without further ado, I present the first interview in this exciting series. Bennett Greenspan is the President and CEO of Family Tree DNA, as well as a Founding Partner of the new start-up DNATraits. In the following interview, I ask Mr. Greenspan about the founding of the two companies, and about his thoughts regarding the future of genetic genealogy.

TGG: How long have you been actively involved in genetic genealogy, and how did you become interested in the field?

Bennett Greenspan: I started Family Tree DNA in early 2000 because I had hit a brick wall and needed a new tool to determine if my cousin was related to a person I founding Argentina with the same name. Once I saw how effective using DNA for genealogy were I knew that every genealogist would need to avail themselves of this wonderful confirmation tool.

TGG: You founded Family Tree DNA in 1999, one of the first companies to offer genetic genealogy testing. What led you to create FTDNA?

BG: I got the idea in 1999 but before the proof of concept was completed it was march of 2000…we began to accept orders at that time and formally launched the service, for Y DNA, in May of 2000…3 days after Oxford Ancestors launched their mtDNA testing service…As we all know Y-DNA is much more genealogical then the female inherited mitochondria because of the much faster mutation rates for the STR’s that we test in male genetic genealogy, as well as the fact that in the Western world surnames go down the line along with the Y-DNA, which is not the case with the mtDNA.

TGG: Genetic genealogy, unfortunately, has received some bad press lately, largely through the misconceptions of journalists or confusion between genetic genealogy and other types of personal genomic services. What can amateur genetic genealogists do to counteract this bad press?

BG: I’d say be aggressive in writing letters to the editor and making your positive feelings known. I have received scores of support letters since that silly article came out in the English press last week, even thought we were not among the companies that they used…It’s clear that the amateur genealogist who uses our services knows much better then the reporter who, in many cases, seem to have an agenda of fear uncertainly and doubt (FUD) because FUD sells newspapers.

TGG: You recently launched DNATraits. What led you to explore this area of genetic testing?

BG: After being reluctant for some time to offer these tests I thought that it was time to launch them for 2 reasons. 1. We saw the demand starting from our own community 2. Mendelian disorders ARE genealogy…we either have had a disaster in our families and therefore we know that someone carries the mutation, or they are hidden and depending upon whom we marry they might create a personal disaster for the family who is a carrier. 2. Because Mendelian diseases are testable and predictable along the lines of 1-2-1 (presuming both parents are carriers for the same recessive mutation) we can actually prevent the birth of sick children by education and screening pre-conception or pre-marriage. This seems to us a noble if not earnest task. It’s quite different form the associated gene tests by 23&Me, et. al. since they tell you that you have a greater risk but the SNP’s are incomplete and therefore, IMHO, not ready for prime time.

TGG: What do you think the future holds for genetic genealogy?

BG: Will we have high double digit growth rates like in the past? I don’t know. But, as our database grows the likelihood of everyone finding matches with their surname (and prior to surname adoption) is growing exponentially. Today we are beginning to find that most people from a western European background find a strong match…quite often with the same surname. The matches are also beginning to get exciting in the group of adoptees who number in the 1-2,000,000 in the US alone. As the database grows and as this gets mapped out the concept of anonymous sperm donor will become like Jumbo Shrimp…an oxymoron. At least when it comes to adoptees intend to help in that regard more so then we can do today (and we already have a pretty good number of adoptees that found through us their biological surname).

Last week the genetic genealogy community lost one of its treasured members, Leo W. Little.

Leo’s passing was announced on the GENEALOGY-DNA mailing list on Sunday evening. Since then, many members of that mailing list, the ISOGG Yahoo Group, and the DNA- ANTHROGENEALOGY Yahoo Group have expressed their sympathy to Leo’s family and expressed their admiration for his work and contributions to the field of genetic genealogy.

Leo was the administrator of at least two DNA Projects, including the null439 DNA Project, and the Little DNA Project. The null439 group was begun by Leo after he helped characterize the “Little SNP” in 2002, a SNP that is also called “L1″ or “S26″. In 2005 Leo posted an email to the GENEALOGY-DNA that explained the discovery of the SNP, which defines the R1b1b2a1c Haplogroup in the new 2008 ISOGG Y-DNA Haplogroup Tree (previously known as R1b1c9a). The L1 SNP causes the primers used by Family Tree DNA to analyze Y-STR repeats at DYS439 to fail to anneal, and thus no result is recorded for that locus (i.e., it is “null”). The result is recorded as a default 12 with a blue asterisk. Here is Leo’s description from the null439 page:

“SNPs are passed down from father to son, and all males with a null439 SNP descend from a common ancestor who lived within the last 5000 years. Most null439 males with known origins have roots in England or Germany. The null439 SNP is also called “L1” or “S26“. L1/S26 is carried by about a half of one percent of R1b males. All males with L1/S26 also have the SNP “S21” (also known as “U106“) which defines the R1b1b2g subgroup (formerly R1b1c9).”

The null439 Project currently has at least 83 members, including myself. In June 2006 my Y-DNA analysis revealed that I have the L1 SNP and thus had no result at DYS439. When I joined the null439 project at FTDNA, Leo promptly emailed me and welcomed me to the group.

Other Contributions

But the S26 SNP and the null429 group are just a few of Leo’s contributions to the field. Other work includes his incredibly useful “Eclectic Genetic Genealogy Information” page, or a number of articles at the Little DNA Project (including this one entitled “Tracing the Borders Littles through DNA Testing“). Indeed, a search of the GENEALOGY-DNA archives reveals at least 150 messages posted by Leo’s email address (lwlittle@yahoo.com), and a search of his name reveals many more messages in which he was mentioned. Leo was a consultant for the Sorenson Molecular Genealogy Foundation, a member of the following organizations: the Association of Professional Genealogists, the International Society of Genetic Genealogy, and the Austin Genealogical Society. In July 2005, Leo’s work was highlighted in an article from Time magazine entitled “Can DNA Reveal Your Roots?“:

“One of the less controversial aspects of genetic genealogy is its ability to help people fill in gaps in their family tree. Leo Little, a retired engineer in Austin, Texas, had used historical records to trace his lineage back to his great-great-grandfather Thomas Little, who was born in Alabama in 1816. Then, he says, “I hit a brick wall. I knew my Littles were from the South, but there were a lot of Littles from the South, and it was impossible to sort out.” After he took a DNA test from Family Tree DNA, he began leading one of the company’s 1,900 surname projects, in this case checking test results on Littles. As a result, he has identified three distant cousins. By pooling their family records, the cousins have been able to trace their roots all the way back to 1680.”

Since Leo’s passing was so unexpected, the family is still dealing with the shock. On Monday, Terry Barton posted to the ISOGG Yahoo Group that the family had been contacted, and that Mrs. Little had requested that there be “no phone calls, no emails, no cards, no contact of any kind.” She did mention the possibility of a memorial fund in the future. Additionally, Mrs. Little indicated that she would try to respond to Leo’s emails at some point.

If you would like to leave a comment below, I will compile them and send them in letter to Mrs. Little when she is ready to receive mail. In addition, this post will be available indefinitely as a memorial to Leo Little. Thank you to Katherine Hope Borges for her assistance in completing this post.

UPDATE From Katherine (May 27 2008):

Leo was heavily involved in his church history project and donations may be made in his name to (with thanks to Derrell and Terry for sharing this info):

Highland Park Baptist Church
5206 Balcones Drive
Austin TX 78731

In DNA Fund, we will have fund designated for a “Leo Little Memorial Scholarship”, but since the 501(c)(3) is not yet in effect, contributions are not tax-deductible. However, contributions may be sent to DNA Fund’s General Fund at Family Tree DNA and will be designated for null research.

The Genetic Genealogist has been accepted to 9rules in the latest round of submissions! I’m honored to be accepted since 9rules is a collection of some of the best blogs around, and I hope that I can live up to the challenge. 9rules has a ‘technology’ community, but not a ‘science’ community; think there’s any chance they’ll start one? More news to come.

And don’t forget that starting next Tuesday I’m starting a great nine-part series of interviews with some of the biggest names in the field of genetic genealogy!

Portfolio presents an interesting four-part series by David Ewing Duncan about personal genomics. But before I go on, it is important to realize that this series focuses on personal genomics – analysis of SNPs or sequencing throughout the genome – rather than the much narrower field of genetic genealogy. Although there are some ethical concerns surrounding genetic genealogy, they are not specifically addressed in the series.

Portfolio’s public relations coordinator circulated a summary of the series (I wish I had a PR coordinator!):

In Portfolio.com columnist David Ewing Duncan’s four-part series, “You 2.0,” he assess and compares three major websites recently launched that test a person’s DNA for risk-factors for everything from Alzheimer’s Disease and heart attack to drug addiction, an ability to taste bitterness, and ancestry. Is this information ready for prime time? Can it really predict a healthy person’s medical future? Duncan has been tested by 23andme, deCodeme, and Navigenics, and reports on his sometime contradictory and confusing, sometimes funny, and occasionally enlightening results gleaned from these controversial sites that are attempting to bring genetics directly to the people.

Here are the four parts:

1. You 2.0: Comparison Shopping For Your Future
2. You 2.0: I’m Doomed. Or Not.
3. You 2.0: Recreational DNA and Genetic Voyeurism
4. You 2.0: Closing the Genetic Gap

Look for David’s Book Later This Summer

According to his website, Duncan is writing a book entitled Experimental Man: One Man’s Intimate Journey Into Himself, Cell by Cell (although I’ve also seen it written as Experimental Man: A Molecular Autobiography) which is due to be available in late summer 2008. The book “describes and assesses a wide-range of leading-edge diagnostic tests that David has taken, from genes and environmental toxins inside him to brain scans assessing everything from his propensity to suffer from Alzheimer’s Disease to the politics of his brain. He is running these tests as an Everyman in an attempt to understand and humanize the often eye-glazing science that is about to change our world.” The Experimental Man Power Point Presentation is already available.

Sounds very interesting!

HT: The Gene Sherpa

For new readers of The Genetic Genealogist, 23andMe is a personal genomics company that offers a service to examine more than 600,000 SNPs throughout an individual’s genome. The information is then used to analyze ancestry (using Y-DNA and mtDNA) and to estimate propensity for disease. For much more info about 23andMe and similar companies, look under “Personal Genomics” on my Featured Articles page.

A Contest

Today, 23andMe announced on their blog – The Spittoon – the winner of the company’s first ‘Win Your Genome Contest’. The contest was to describe Lilly Mendel, a publicly available but anonymous profile at 23andMe – based upon her genetic information alone. The winner was Mike Cariaso, who previously created a program that analyzes 23andMe SNP data using the growing SNPedia database.

A New Partnership

In another announcement today, 23andMe released details of a partnership between the company and The Parkinson Institute to analyze the genomes of the Institute’s patients. Unlike the typical customer, the Institute’s patients will provide information about their “individual environmental exposures, family history, disease progression and treatment response.” The official press release is here, GenomeWeb News coverage is here, and there is a mention at Simon Lin’s blog Retail Genomics.

A Panel Discussion

Linda Avey, one of the founders of the company, recently participated in a panel discussion at the Cold Spring Harbor Biology of Genomes meeting. She was joined by representatives from two competitors, deCODEme and Navigenics. Daniel Macarthur at Genetic Future provides a fantastic and lengthy review and analysis of the discussion. A mention at Genome Technology Online laments the fact that the panel discussion was civil, even though it was a gathering of three competitors. The site also provides a summary of the meeting (subscription required).

A Controversy

Also in the news are reports that two states, California and New York, are evaluating whether personal genomics services offered by companies such as 23andMe and deCODEme are regulated by state laws, and if so, whether the companies are meeting those regulations. For more information, see “California, New York Officials Probing Gene-Testing Companies” at The Mercury News.

And Everything Else!

And lastly, here are a few newspaper articles or blog posts that mention the latest in personal genomics (note that these articles are provided so that you can perform your own analysis of personal genomic services – unfortunately, I haven’t evaluated these articles for accuracy):

• CBS News – Genetic Mapping More Hype Than Help?
• Wired Science – 23andMe: Certain About Uncertainty
• Washington Post – What’s in Your Genes? You Don’t Want to Know – Yet.
• redOrbit – Kinship is Rooted in Genetic Testing, Social Networking
• Forbes – I Want My DNA Test
• Reason – Does Genetic Testing Doom Private Insurance?

While conducting some online research the other day, I discovered a series of videos about genetic genealogy by Alastair Greenshields, founder of DNA Heritage. The main page contains 6 videos (shown in the list below) that are broken down into 2 to 8 chapters. Since the videos are broken up into chapters, you can can easily skip to the topics that are the most relevant to you.

1. Genetic Genealogy Terminology
2. Genetic Genealogy Defined
3. Tracing My Genetic Heritage
4. My Past
5. Giving DNA
6. Genetic Genealogy Results

There are many other places to find videos about genetic genealogy. Last April I wrote “Ten Videos For Genetic Genealogists“, although only 8 of them are still available. You can also watch videos about DNA here at TGG’s DNA Channel, courtesy of Roots Television. And lastly, Family Tree DNA has videos available on its website.

To give you a preview of the DNA Heritage videos, the first is embedded below:

To the readers coming from yesterday’s article by George C. Morgan in The Ancestry Weekly Journal, welcome to The Genetic Genealogist! The eBook that George mentioned – I Have the Results of My Genetic Genealogy Test, Now What? – is available by simply clicking “Download Now” in the right sidebar.

If you are interested in reading more about genetic genealogy and personal genomics, visit my Featured Articles page for all of my favorite and most popular articles. And please subscribe to my feed to stay up-to-date on the latest in genetic genealogy news and information.

In the coming weeks, I’ll be featuring an interview series with some of the biggest names in genetic genealogy, so stay tuned!

GenomeWeb Daily News published a story on Friday entitled “En route to Neandertal Genome, Researchers Analyze Its Complete Mitochondrial Genome” which revealed the results of recent Neanderthal mtDNA analysis.

On Thursday May 9th, Svante Pääbo spoke at the Biology of Genomes meeting at Cold Spring Harbor Laboratory. Pääbo’s group, along with 454 Life Sciences, is currently engaged in a project to sequence the Neanderthal genome. The researchers have been able to sequence the complete Neanderthal mtDNA genome with 35-fold coverage. The genome is approximately 16 kilobases long and differs from the CRS at 133 positions. From what I’ve been able to find online, it doesn’t appear that the actual sequencing results have been released to the public. Given current estimates of mtDNA mutation rates, the number of differences between human and Neanderthal mtDNA suggests that the branches diverged approximately 600,000 years ago.

Although there have been accusations that Neanderthal sequencing is often contaminated by human DNA, the concerns have been addressed by Pääbo’s group. From the article:

Pääbo mentioned that about 10 percent of the DNA library they initially sequenced – data they published in late 2006 – consisted of modern human DNA. But over the last two years, they have been guarding against contamination by generating DNA libraries in a clean room and by barcoding the Neandertal DNA.

The ISOGG has a page devoted to Neanderthal DNA for more information.

The Quantified Self has a follow-up to last week’s post about the reproducibility of SNP testing by 23andMe and deCODEme using Illumina SNP chips (see the Quantified Self’s post and my post). In that post, it was revealed that two comparisons of the 560,000 overlapping SNP results from the two different companies had revealed differences of just 23 locations for one individual and 35 for another.

Soon after last week’s post, one of these individuals – Ann Turner – contacted The Quantified Self with new information that 4 of the SNPs on her list of 35 disagreeing results are also on the other person’s list of 23 disagreeing results (Antonio Oliveira). From Ann’s email to The Quantified Self:

Four of those (rs11149566, rs4458717, rs4660646, and rs754499) were also found in Antonio’s list. That’s more than you would expect by chance.

Interesting results, and as Kelly at TGS points out, “This is why sharing results is so valuable and a key to great quantified self understanding.” For anyone who might be interested in doing further comparison, here is Oliveira’s list (also available here):

rs4660646, rs4458717,rs754499, rs11149566, rs1934496, rs10933181, rs9881405, rs1064205, rs312330, rs11100437, rs2955195, rs7033246, rs1536928, rs10793963, rs10894749, rs3921012, rs510978, rs12296276, rs4965862, rs2290505, rs12960185, rs4814138, rs6615048

And here is Turner’s list (also available here):

rs4660646, rs4458717,rs754499, rs11149566, rs10435795, rs1045363, rs10743414, rs10945383, rs11179382, rs11707159, rs11915402, rs1209171, rs1221986, rs12907462, rs1303912, rs13422439, rs161381, rs17328647, rs1961196, rs1966357, rs2016461, rs2064034, rs2290516, rs2853981, rs3952469, rs4336661, rs4423481, rs4572718, rs6531490, rs6942478, rs7102702, rs7812884, rs845217, rs9332128, rs9476380

For everyone not familiar with SNPs, or Single Nucleotide Polymorphisms, see this brief introduction at Wikipedia, including the helpful diagram, or read the SNP Page at SNPedia (which links to a helpful YouTube video).