The Genetic Genealogist

Press release from Family Tree DNA today:

Family Tree DNA’s Genomics Research Center Facilitates Discovery of Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

– By Offering Low Cost DNA Test, Family Tree DNA Aims to Expand Reach of DNA Testing to Encourage Further Exciting Discoveries About Human Origins –

[26-March-2013]

HOUSTON, March 26, 2013 /PRNewswire/ — Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that a unique DNA sample submitted via National Geographic’s Genographic Project to its genetic genealogy subsidiary, Family Tree DNA, led to the discovery that the most recent common ancestor for the Y chromosome lineage tree is potentially as old as 338,000 years.  This new information indicates that the last common ancestor of all modern Y chromosomes is 70 percent older than previously thought.

The surprising findings were published in the report “An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree” in The American Journal of Human Genetics earlier this month.  The study was conducted by a team of top research scientists, including lead scientist Dr. Michael F. Hammer of the University of Arizona, who currently serves on Gene By Gene’s advisory board, and two of the company’s staff scientists, Drs.Thomas and Astrid-Maria Krahn.

The DNA sample had originally been submitted to National Geographic’s Genographic Project, the world’s largest “citizen science” genetic research effort with more than 500,000 public participants to date, and was later transferred to Family Tree DNA’s database for genealogical research.  Once in Family Tree DNA’s database, long-time project administrator Bonnie Schrack noticed that the sample was very unique and advocated for further testing to be done.

“This whole discovery began, really, with a citizen scientist – someone very similar to our many customers who are interested in learning more about their family roots using one of our genealogy products,” said Gene By Gene President Bennett Greenspan.  “While reviewing samples in our database, she recognized that this specific sample was unique and brought it to the attention of our scientists to do further testing.  The results were astounding and show the value of individuals undergoing DNA testing so that we can continue to grow our databases and discover additional critical information about human origins and evolution.”

The discovery took place at Family Tree DNA’s Genomic Research Center, a CLIA registered lab in Houston which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations, including participants in the Genographic Project.  Drs. Thomas and Astrid-Maria Krahn of Family Tree DNA conducted the company’s Walk-Through-Y test on the sample and during the scoring process, quickly realized the unique nature of the sample, given the vast number of mutations.  Following their initial findings, Dr. Hammer and others joined to conduct a formal study, sequencing ~240 kb of the chromosome sample to identify private, derived mutations on this lineage, which has been named A00.

“Our findings indicate that the last common Y chromosome ancestor may have lived long before the first anatomically modern humans appeared in Africa about 195,000 years ago,” said Dr. Michael Hammer.  “Furthermore, the sample, which came from an African American man living in South Carolina, matched Y chromosome DNA of males from a very small area in western Cameroon, indicating that the lineage is extremely rare in Africa today, and its presence in the US is likely due to the Atlantic slave trade.  This is a huge discovery for our field and shows the critical role direct-to-consumer DNA testing companies can play in science; this might not have been known otherwise.”

Family Tree DNA recently dramatically reduced the price of its basic Y-DNA test by approximately 50%.  By offering the lowest-cost DNA test available on the market today, Gene By Gene and Family Tree DNA are working to eliminate cost as a barrier to individuals introducing themselves to personal genetic and genomic research.  They hope that expanding the pool of DNA samples in their database will lead to future important scientific discoveries.

About Gene By Gene, Ltd.

Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity.  Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago.  Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests.  DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide.  Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contacts:

Kate Croft

for Family Tree DNA and Gene By Gene, Ltd.

Casteel Schoenborn

888-609-8351

croft@csirfirm.com

SOURCE Gene By Gene, Ltd.

Web Site: http://www.genebygene.com

Earlier this week, Ancestry.com began releasing raw data to purchasers of the AncestryDNA autosomal DNA product.  Several others have written great articles on AncestryDNA’s new raw data, so I’ll point you to their articles instead of rehashing everything here:

• EDITED (03/24/2013) - Expect a post  on this subject very soon from CeCe Moore at Your Genetic Genealogist!

• “Downloading Ancestry’s Autosomal DNA Raw Data File” by Roberta Estes at DNAeXplained
• “AncestryDNA updates” by Debbie Kennett at Crewys news
• “The raw data at AncestryDNA” by Judy G. Russell at The Legal Genealogist

Within the next few weeks and months, you’ll be able to use the AncestryDNA raw data at places like Family Tree DNA and Gedmatch.com.

But note an issue that I first brought up on a mailing list last Thursday when the announcement came out.  The following language is found on the page after you click on the final download link:

The raw data is subject to the AncestryDNA Terms and Conditions and AncestryDNA Privacy Statement. You must not use the raw data in whole, in part and/or in combination with any other database for any discriminatory, breach of privacy or otherwise illegal activity (for example, to re-identify any anonymous donor or to make insurance or employment decisions).

Under “Rules of Conduct” in Section 5 of the Terms and Conditions, Ancestry.com states:

In addition, the following policies are part of this Agreement and must be followed anytime you access the AncestryDNA Website:

D. You must not use the information from the AncestryDNA website or DNA tests (including any downloaded raw DNA data) in whole, in part and/or in combination with any other database for any discriminatory, breach of privacy or otherwise illegal activity (for example, to re-identify any anonymous donor or to make insurance or employment decisions).

These Rules of Conduct are not exclusive. If we believe, in our sole discretion, that you are in breach of this Agreement, are acting inconsistently with the letter or spirit of this Agreement or otherwise interfering with the efficient management or delivery of the AncestryDNA Website, Service or Content, we may limit, suspend or terminate your access to our AncestryDNA Website. In such a case, no portion of your subscription payment will be refunded. Should we decide to suspend or terminate your access for any reason other than your actions or omissions which we believe to be inconsistent with this Agreement we will refund to you any unused portion of your payment, which will be your sole and exclusive remedy upon such a suspension.

Presumably “any anonymous donor” means someone who sent their DNA into AncestryDNA anonymously rather than, for example, a sperm donor, although the language is not clear.

It will be interested to see how this develops.  Stay tuned!

On Thursday, December 20, 2012, 23andMe and LabCorp (Laboratory Corporation of America) were sued for patent infringement in Delaware by Australian company Genetic Technologies Limited.

Specifically, Genetic Technologies has alleged that 23andMe and LabCorp infringe U.S. Patent No. 7,615,342, entitled “ACTN3 genotype screen for athletic performance.”  The complaint is available here.

ACTN3 (Alpha-actinin-3) is an actin-binding protein encoded by the ACTN3 gene.  A particular mutation in the ACTN3 gene (rs1815739; R577X) results in a deficiency of the ACTN3 protein.  The non-mutant version of the gene is associated with sprint performance, the mutant version is associated with endurance.

23andMe does analyze the rs1815739 SNP in their tests (see “Speed Gene: Fact or Fiction?”). My own rs1815739 SNP genotype, for example, is TT, meaning that I have no working copies of ACTN3 in my fast-twitch muscle fibers.  From the complaint:

23andMe’s marketing materials describe in detail the ACTN3 gene testing that LabCorp has and is performing for 23andMe. More specifically, those marketing materials indicate that LabCorp analyzes and detects the single nucleotide polymorphism rs1815739, which is also referred to as R577X, in the ACTN3 gene. The rs1815739 polymorphism alters position 577 of the α-actinin-3 protein. The marketing materials also indicate that the Defendants associate athletic performance with the ACTN3 gene, which is “turned on in a type of muscle fiber used for power-based sports.” The testing method includes analyzing a sample obtained from a human for the presence of one or more genetic variations in the ACTN3 gene and detecting the presence of two 577R alleles (i.e., rs1815739(C,C)) at the loci encoding amino acid number 577 of the ACTN3 protein.  Defendants then use the presence of two 577R alleles to predict the potential sprinting, strength, or power performance of the human because the presence of two copies of the 577R allele is positively associated with potential sprinting, strength, or power performance. Thus, Defendants’ ACTN3 testing directly infringes upon one or more claims of the ’342 Patent.

Although Genetic Technologies did not identify which claims of the ‘342 patent it is asserting against 23andMe and LabCorp, only claims 1-8 are specifically genetic testing claims.  For example, claim 1 of the patent is a method claim:

1. A method to predict potential sprinting, strength, or power performance in a human comprising:

a)      analyzing a sample obtained from the human for the presence of one or more genetic variations in α-actinin-3 (ACTN3) gene;

b)      detecting the presence of two 577R alleles at the loci encoding amino acid number 577 of the α-actinin-3 (ACTN3) protein; and

c)      predicting the potential sprinting, strength, or power performance of the human, wherein the presence of two copies of the 577R allele is positively associated with potential sprinting, strength, or power performance.

The patent lists Kathryn Nance North (see here and here) as the sole inventor of this method.  The 2003 study that reported a link between ACTN3 and athletic performance (full text online here) lists six authors along with Professor North, including genetics blogger Daniel MacArthur.  Daniel wrote about ACTN3 a few years ago at Genetic Future.

What Now?

If the case isn’t immediately settled, then 23andMe and LabCorp will likely challenge the validity of the ‘342 patent on various grounds.  A quick review of the prosecution history (the back-and-forth with the patent office before the application issued as a granted patent) reveals that the patent application had very few prior art issues during prosecution, being challenged primarily by North’s earlier paper on ACTN3, instead encountering challenges under 35 U.S.C. 112 (enablement).

It is also likely that this patent will be challenged under the Mayo v. Prometheus holding, in which the Court held that not only is a law of nature itself unpatentable under 35 U.S.C. 101, but so is the application of that law of nature if the application merely relies upon elements already known in the art. In Mayo, the law of nature was the relationship between “concentrations of certain metabolites in the blood and the likelihood that a dosage of a thiopurine drug will prove ineffective or cause harm.”  Undoubtedly this case will examine whether the natural relationship between genetic variations in ACTN3 gene and the “potential sprinting, strength, or power performance” of a human is a similar law of nature.  If so, the question then becomes whether the claim of the ‘342 patent recites more than just that law of nature and the general instruction to apply it.  Based on the claim set forth above, this will be a significant challenge for the ‘342 patent.

This weekend I had the privilege to review an advance copy of “Finding Family: My Search for Roots and the Secrets in My DNA,” a new book by author and genetic genealogist Richard Hill.  The book is currently available at Amazon only in paperback (link here: Finding Family: My Search for Roots and the Secrets in My DNA), although eBook versions will be available soon.

Many genetic genealogists are already familiar with Richard Hill and his website DNA-Testing-Adviser.com, where he shares information about using genetic genealogy to learn about your family, especially for adoptees and birth parents.  You may also be familiar with Mr. Hill through the front-page 2009 Wall Street Journal article detailing his search for his family, or from the 2009 article in the Grand Rapids Press (“Rockford man uses DNA testing, Internet searches to find his birth father“).

Finding Family

Mr. Hill’s fascinating new page-turner describes his 30-year search for his birth patents.  Although he was quickly able to identify his birth mother, the search for his birth father took much, much longer.  As the author writes:

Finding Family: My Search for Roots and the Secrets in My DNA is Richard Hill’s true and intensely personal story of how he pieced together the long-kept secret of his own origins. This highly suspenseful book is a page-turning saga of personal detective work that will appeal to anyone who loves a good mystery.

I found this 260-page book waiting for me in my mailbox on Friday evening after work, and before 24 hours had passed I finished the last page.  I was completely unable to put it down, anxious to discover the conclusion of Mr. Hill’s decades-long search (even though I knew how it ended!).

Highly Recommended!

I highly recommend this book to anyone interested in genealogy, family secrets, genetic genealogy, or mystery in general.  The book is a complete and entertaining saga from A to Z.  Although it was occasionally challenging to follow the considerable cast of characters, I think this serves to emphasize how meticulous Mr. Hill must have been in his research and record-taking.  Without good notes and research ability, it might have taken Mr. Hill much longer to complete his search.

Mr. Hill’s story also shows the power of genetic genealogy, especially for adoptees and birth parents.  However, the story also shows that DNA alone is not a magic tool; as I’ve argued for many years now, DNA is a tool that supplements traditional research.  Genetic genealogy is at its best when combined with a well-researched paper trail.  In the case of adoptees with no hope of a paper trail, DNA might provide clues that will help point you toward the paper trail.

You can get more information about using genetic genealogy to supplement your search by reading Finding Family: My Search for Roots and the Secrets in My DNA, or my visiting Mr. Hill’s great website at DNA-Testing-Adviser.com.

I met Dick in the fall of 2011 at the Family Tree DNA administrator’s meeting, although we had corresponded several times prior to meeting in person.  Dick was warm and inviting, and it clearly shows in his book.  He has connected with innumerable people in his search for family, and by reading his book I now count myself among them.

Disclosure: I received a free copy of Mr. Hill’s book to review for The Genetic Genealogist. However, this review reflects my honest thoughts about the book.

Today, The Genographic Project officially announced the launch of their new Geno 2.0 project, a significant update to the type and quantity of genetic information that will be collected and analyzed by The Genographic Project.  The new project will use an entirely new SNP chip (the GenoChip) designed specifically for Geno 2.0 in order to provide the world’s most detailed information about Y-DNA and mtDNA haplogroups (using SNP information) as well as detailed biogeographical estimates and ancient population (Denisovan and Neanderthal) estimates.

As of today you can pre-order a Geno 2.0 kit, which is expected to ship no later than October 30th (although you can probably expect it earlier than that).

Once again Family Tree DNA will perform all the testing, and The Genographic Project has worked very closely with FTDNA to design, troubleshoot, and use the GenoChip.  FTDNA will perform both the Family Finder and the Geno 2.0 test.

Overview of Geno 2.0

The new Geno 2.0 SNP chip contains roughly the following SNPs:

• ~3,200 mtDNA SNPs
• ~12,000 Y-DNA SNPs
• ~130,000 autosomal and X-chromosomal AIMs (including ~30,000 SNPs from candidate regions of interbreeding between extinct hominins (Denisovan and Neanderthal) and modern humans)

The AIMs (Ancestry Informative Markers) were derived from roughly 450 populations around the globe, including many that are unique to the Genographic project and many that have never been previously searched for AIMs.  The SNPs in regions believed to represent Denisovan and Neanderthal interbreeding will be used to detect and study DNA flow between humans and these extinct populations.

Overview of Results

So what do you get when you order a Geno 2.0 test? Via the new user interface (some of which you can see below), you will receive the following:

• A deep-clade Y-DNA haplogroup assignment;
• A deep-clade mtDNA haplogroup assignment;
• Information about the history and migration of mtDNA and Y-DNA haplogroups;
• A biogeographical (ethnicity) estimate; and
• An ancient population (Denisovan and Neanderthal) estimate.

What Geno 2.0 does NOT do:

• Geno 2.0 does not reveal medically-relevant information (but note that medical/health/trait information can sometimes be revealed unintentionally as new health associations are discovered, for example).  NG went to great lengths to prevent medical/health/trait information from being detected by the Geno 2.0 chip.  For example, the team selected only non-coding SNPs with no known functional association, and filtered all selected SNPs against a 1.5 million SNP database (which they constructed from numerous sources) containing all SNPs known or believed to be associated with disease or health. The team also removed all SNPs with a high association with medically-relevant SNPs (which you might be familiar with b/c of Dr. Watson and his APOE status).

• Identify genetic cousins with autosomal DNA.  The Geno 2.0 product is not intended to identify close genetic relatives based on autosomal DNA, and thus does not have that functionality.  I’m guessing that it will be possible for third-party sites to glean some information about relatedness from the data, however.  Note that relatedness through the Y-DNA or mtDNA based on haplogroup information is a part of the functionality of Geno 2.0, as can be seen in the screenshots below.

FTDNA (Deep Clade Testing; Integration of Genographic Results)

One interesting aspect of the new Geno 2.0 chip is that it will completely replace the deep-clade analysis performed at FTDNA.  With this one test, all SNPs currently analyzed by FTDNA in all of its different deep-clade analyses are analyzed in their entirety.

Another great benefit of the Geno 2.0 test is that Genographic will allow the test-taker to upload/transfer their results back into FTDNA, and neither Genographic or FTDNA will charge a fee for this transfer.  This means that Project Administrators will be able to work within the FTDNA system to analyze results of their project members rather than having to rely on collecting data from project members outside the system (thereby potentially increasing participation and results).

Validation of the GenoChip

The designed GenoChip has undergone significant validation (including the use of  about 400 known Y-DNA and mtDNA samples, and as many as 650 samples from various populations around the world).  Following this validation process (which will continue for at least the foreseeable future), the validated GenoChip SNPs are as follows:

• ~12,000 Y-DNA SNPs
• ~3,200 mtDNA SNPs
• ~130,000 autosomal and X-chromosomal SNPs which include the following SNPs:
• 23,692 Neanderthal
• 1,357 Denisovan
• 12,027 Aboriginal
• 10,159 Eskimo Saqqaq
• 998 Chimpanzee

Downloadable Raw Data: Treasure for Third-Party Analysis and Apps

The test-taker’s raw data will be available for download by the test-taker.  This has happily become the norm for most genetic genealogy companies, and NG will follow suit.  It’s not clear at this point whether that will be an immediate functionality (although I’m guessing it will be), or whether it will be in the near future.

Interestingly, the ability to download raw data opens the door for third-party analysis.  For example, I data from the Geno 2.o chip will lead to significant new mtDNA and Y-DNA discoveries (using the user-fueled Y-Chromosome Genome Comparison project, for example).

Consent

During a presentation put on by Spencer Wells and FTDNA a few weeks ago describing the new Geno 2.0 project, I and several other DNA bloggers were able to ask questions about the new chip and the project.  I and a few others asked questions about consent, which is of course an important aspect of any research project involving human samples.

Specifically, I asked whether all test-takers are automatically participants in the research aspect of the new Geno 2.0 project.  Dr. Wells responded that test-takers must opt into research; they are not automatically research participants.  Accordingly, people who are interested in the new test but have concerns about participating in research can do so.

The Geno 2.o Terms and Conditions are here.

Miscellaneous

A few miscellaneous points:

• As of the recent presentation, Genographic was not yet certain if they will be storing DNA samples after they are tested.  They are considering doing so, but of course there are significant costs associated with long-term storage of tens of thousands of DNA samples.
• Testing will take approximately 4-6 weeks once the system is in full swing (but I’m guessing there might be some delays in the beginning with an initial influx of orders).
• You will eventually be able to order the Geno 2.0 test directly through the FTDNA website.
• Although not completely reflected in the screenshots below, the new project allows for much greater participant involvement and interaction.  For example, test-takers are encouraged to share their stories after receiving their results.

For More Information:

Several other bloggers will be writing about today’s launch, and I will update this post to include links to those reviews.  Also, since I will be taking the Geno 2.0 test in the near future, stay tuned for my review and results.

• National Geographic and Family Tree DNA Announce Geno 2.0 – at Your Genetic Genealogist (CeCe Moore)
• Geno 2.0 launches! – at The Legal Genealogist (Judy G. Russell)
• The Genographic Project: onto the autosome! - at Gene Expression (Razib Khan)
• National Geographic – Geno 2.0 Announcement – The Human Story – at DNAeXplained (Roberta Estes)
• National Geographic Announces New DNA Test - DNA – Genealem’s Genetic Genealogy (Emily Aulicino)

Screenshots

Below are a series of screenshots from the new Geno 2.0 project and test results, provided by National Genographic:

The complete kit (collection is by cheek swab):

Introduction Page:

Overview Page:

An mtDNA haplogroup and heat map (showing modern-day locations and frequencies of the haplogroup):

The “Your Story” main page:

An example of more information at the “Your Story” page:

The “Your Map” page (showing an mtDNA map):

More of the “Your Map” page (showing an mtDNA map):

NOTE: much of this information is based on preliminary information about the GenoChip and Geno 2.0 project.  Accordingly, the information is subject to change. Check The National Genographic website for the latest information.

I’ve written about Ancestry.com’s new autosomal DNA product, AncestryDNA, a number of times (see my review of the product at Ancestry.com’s AncestryDNA Product ).

Today, Ancestry.com announced the official release of AncestryDNA (see press release below).  It is initially available only to Ancestry.com subscribers, at a cost of $99.

The launch page is here.

Press Release:

Ancestry.com Launches new AncestryDNA Service: The Next Generation of DNA Science Poised to Enrich Family History Research

Affordable DNA Test Combines Depth of Ancestry.com Family History Database with An Extensive Collection of DNA Samples to Open New Doors to Family Discovery

“Finding Your Roots with Henry Louis Gates Jr.” is a new series from Henry Louis Gates Jr., who previously brought us series such as Faces of America, African American Lives, and African American Lives 2.  The show, which airs on PBS stations on Sunday nights, premieres March 25th, 2012 with singer/actor Harry Connick, Jr.

Last week I participated in a conference call with members of the show, including Senior Story Editor and Producer Leslie Asako Gladsjo and Chief Genealogist Johni Cerny.  Also on the call, although only able to participate for a few minutes, was Henry Louis Gates Jr.

Here are some interesting tidbits about Finding Your Roots – and genealogy in general – that I learned from the conversation:

• Gates believes that genetic genealogy is deconstructing the notion of race; never has FTDNA or 23andMe returned an African American’s testing results and reported 100% African, for example.  In other words, science is demonstrating that things are much more complicated than we would have guessed without the benefit of DNA.

• All guests on Finding Your Roots used both 23andMe and FTDNA for DNA testing – all African Americans participating in the series also used African Ancestry.  While the guests receive all their results, we may not always see them.

• Many are still wary of genetic genealogy; many potential guests even turned down the series largely because of the DNA testing involved.

• Gladsjo and Cerny noted that DNA is just another tool for the genealogist; sometimes the guests’ DNA results were very interesting, and sometimes they were “pretty boring.”

I hope you’ll be tuning in tomorrow to see Finding Your Roots.  I have a feeling that this is going to be a fascinating series.

By the way, did you catch last night’s episode of “Who Do You Think You Are” with Helen Hunt? It was another fantastic episode.  Too bad they didn’t bring in DNA testing.  With Hunt’s Jewish ancestry, it would have been a terrific opportunity to education viewers about the many unique facets of genetic genealogy testing in this population.

PRI’s The World, a weekday radio news magazine, has a new piece by producer Carol Zall entitled “Roots 2.0: Using DNA to Trace My Ancestry.”  The piece makes for a great introduction to genetic genealogy.  I especially like the 35-year-old interview between the young Carol and her grandmother, as well as Carol’s interpretation of her results.

I spoke with Carol a few months about this piece, and she included a few quotes from the interview in the article.  Also included is a 2-minute soundbite of our conversation:

Also featured in the main article are the always-fantastic Daniel MacArthur and Joe Pickrell (you can find both of them at Genomes Unzipped).

Both Daniel and I also contributed short companion pieces:

• “Genetic Genealogy: A Powerful Tool for the Family Historian” by me; and
• “Ready to Test Your DNA: How To Choose A Genetic Testing Company” by Daniel.

Over at The Legal Genealogist (one of my favorite new blogs!), blogger Judy Russell, J.D., CG discusses Ancestry.com’s new autosomal DNA testing service in “Science and the “10th” cousin.”

As I noted in a recent blog post (see “WDYTYA Reveals More Information About Ancestry.com’s New Autosomal DNA Testing“), autosomal DNA testing was featured in the recent episode of Who Do You Think You Are with actor Blair Underwood.  After revealing Mr. Underwood’s biogeographical estimates (74% African American and 26% European), they revealed a genetic cousin found in the Ancestry.com’s database:

The service identified a distant cousin (somewhere around the 10^th cousin range) who lived in Cameroon (an Eric Sonjowoh). Mr. Sonjowoh was already in the Ancestry.com database, which is why they were able to compare him to Mr. Underwood. According to Eric, someone approached him in 2005 and asked him for his DNA because African Americans were trying to trace their family back to Cameroon. I’m not sure what database the DNA was in, but it shows that Ancestry.com has pre-populated its database with at least some samples from other public and/or proprietary data sources.

Ms. Russell expresses concerns over the identification of the relationship between Mr. Underwood and Mr. Sonjowoh as “1oth Cousins:”

I have a bit of an issue with telling person A (Blair Underwood) that person B (Eric Sonjowoh) is a 10th cousin when there isn’t a prayer of a paper trail to support that statement — and the science isn’t good enough to say it either.

She notes – very correctly – that autosomal testing alone cannot identify a relationship as being 10th cousins rather than anything ranging from 5th, 12th, or 15th cousins, or even beyond.

As you can see from my summary above, I had assumed that the label “10th Cousins” was not intended to be an exact identification of the relationship (I wrote: “somewhere around the 10th cousin range”), but an approximation similar to those used by both 23andMe (for example, “3rd to Distant Cousin”) and Family Tree DNA (for example, “5th Cousin – Remote Cousin”).  Unfortunately, it’s difficult to determine from the portion of the user interface we saw in the program whether or not the “10th cousins” applies to a range or is intended to be a more definitive determination.

In any event, I agree with Ms. Russell’s conclusion.  It is vital that users of any autosomal DNA testing service understand both the capabilities and limitations of the science, and that testing providers work to educate their customers.  It will be interesting to see more of the Ancestry.com user interface when the product officially launches.

Here’s a few links to some other discussion of DNA testing and Ancestry.com’s service following Mr. Underwood’s episode of WDYTYA:

• “Blair Underwood, Who Do You Think You Are?” at tracingthetree;
• “Blair Underwood talks tracing his African roots and ‘Streetcar’ role” at the grio; and
• “Blair Underwood’s African Roots on WDYTYA?” at Ancestor Search Blog.

By the way, a congratulations to Ms. Russell on her recent certification as a Certified Genealogist!

[Update (2/24/12): Some genealogy forums are reporting that callers to Ancestry.com are being told that the autosomal DNA test will publicly launch in approximately 1 month (late March or early April).]

Tonight’s episode of Who Do You Think You Are? featured African-American actor Blair Underwood. For those not familiar with Who Do You Think You Are, the 1-hour program examines the genealogy of a celebrity, typically focusing on one or two of their most interesting families.

DNA Testing

This episode was of particular interest to me because it featured Ancestry.com’s new autosomal DNA testing service, which I’ve written about before (see “Ancestry.com’s Autosomal DNA Product – An Update”). While there wasn’t too much new information about the DNA product in this episode, it was an interesting sneak peek at the service.

In the beginning of the episode, as Mr. Underwood visits with his family to get a start with his genealogy, he shows a DNA collection kit with two long swabs and a mail return envelope. Ancestry.com is using cheek swabs rather than a saliva sample to collect DNA.

Admixture Results

Later in the episode, Mr. Underwood reviews his DNA test results with Dr. Ken Chahine (LinkedIn profile), who is described as the “General Manager Ancestry DNA” in the episode. Dr. Chahine has a Ph.D. in biochemistry and a J.D. (very similar to my own background). According to Dr. Chahine, the test Mr. Underwood used examined approximately 700,000 “links” (or SNPs) in the DNA chain.

Mr. Underwood’s results suggested that the DNA examined was approximately 26% European and 74% African, which is a fairly common admixture for African Americans. Under the “European” tab of the user interface, he was described as 20% French/Swiss and 6% German. Under the “African” tab, the results showed 27% Bamoun, 22% Brong, 13% Yoruba, and 12% Igbo (a total of 74%).

Genetic Cousins

Next, Dr. Chahine asked, “Where would we find your closest DNA matches?” In other words, the Ancestry.com autosomal testing service will also include the ability to identify genetic cousins in the database.

The service identified a distant cousin (somewhere around the 10^th cousin range) who lived in Cameroon (an Eric Sonjowoh). Mr. Sonjowoh was already in the Ancestry.com database, which is why they were able to compare him to Mr. Underwood. According to Eric, someone approached him in 2005 and asked him for his DNA because African Americans were trying to trace their family back to Cameroon. I’m not sure what database the DNA was in, but it shows that Ancestry.com has pre-populated its database with at least some samples from other public and/or proprietary data sources.

Interestingly, Dr. Chahine indicated that Mr. Underwood and Mr. Sonjowoh are related through Mr. Underwood’s paternal line. I’m guessing that they determined this by also testing one of Mr. Underwood’s parents (either directly testing his father, or by process of elimination by testing his mother).

At the end of the episode, Mr. Underwood and his father traveled to Cameroon to meet Mr. Sonjowoh and his family, which was a touching reunion. Although their relationship is extremely distant (perhaps as much as 300 to 400 years), it provided Mr. Underwood with a connection to his roots in Africa.