The Genetic Genealogist

Kevin Davies, Ph.D., currently the Editor-in-Chief of Bio-IT World, recently wrote an article about Pathway Genomics in which he reviewed the company’s Health Test product (see “Pathway and Me: Consumer Genomics Firm Delivers First Results”):

“Earlier this year, I submitted a saliva sample to Pathway to get a feel for how the latest consumer genomics offering compares to the more established companies in the field. Pathway communicates the health results not by a numerical relative or lifetime risk but via a series of color-coded bins depending on their potential significance to the individual.”

I too recently had the opportunity to test my DNA through Pathway Genomics. (DISCLAIMER: Although this test kit was not free, I am a consultant for Pathway Genomics. This review, however, contains my own opinions of the Pathway Genomics Ancestry Test product). This is a brief review of the Pathway Genomics Ancestry Test, which examines SNPs on the mtDNA (for both males and females) and the Y-chromosome (for males). Using those results, Pathway classifies test-takers into one of over 1,200 maternal haplogroups and one of over 525 paternal haplogroups.

mtDNA Results

Based on my SNP results, Pathway classified me as belonging to maternal haplogroup A2, a predominately Native American haplogroup:

It was actually a major victory for Pathway to classify me as A2. Although I already knew that I’m haplogroup A2 based on prior sequencing, I have a very unusual A2 haplotype (so far, the only one like it in the world). Haplogroup A2 is typically differentiated from the parent haplogroup A by changes at (at least) sites 146, 153, 16111, and 16362 in the control region and at sites 8027 and 12007 in the coding region. I, however, am missing the 16111T mutation.

As a result, at least one other company has had trouble determining whether I am A or A2. 23andMe, for example, bases its A2 classification on two sites, 8027 (rs1116904) and 16111 (i3001593). Since I’m missing the 16111 mutation, 23andMe classifies me as simply A rather than A2 (and although 23andMe tests the 12007 SNP (rs2853497), they don’t appear to use it in the A2 calculation).

Y-DNA Results

Pathway classified my paternal haplogroup as R1b1b2a1a1, a subclade of R1b which is defined by U106 (aka S21 or M405) (SNP rs16981293 at position 8856078).

R1b1b2a1a1 is believed to be roughly 3,000 to 4,000 years old, and originated in central/northern Europe. The haplogroup is shared by both Craig Venter and James Watson, the first individuals to have their complete genomes published. I further belong to a subclade called R1b1b2a1a1c, which is defined by S26 (at position 13025258). 23andMe does not test the S26 SNP, and it is not currently clear whether Pathway tests the SNP.

Included with mtDNA and Y-DNA results is a summary of the current understanding of the origin and history of the haplogroup, and a migration map which shows:

“The migration map shows approximately when your ancestor originated and where they migrated across the globe. You can move the pointer along the bottom of the map to see different timeframes, or click on other migration lines to see the patterns of different haplogroups.”

The results also include a navigable haplogroup tree and information about some famous people whose mtDNA or Y-DNA results are known.

Downloading SNPs

Although I am currently not able to download my SNP results, the Davies article at Bio-IT World noted that this will most likely be an option in the near future:

“For now, there is no easy mechanism to obtain the raw SNP/genotype results, as the other DTC companies provide (either via download or CD). But it is coming. ‘This is your information and you are certainly entitled to it,’ said Bornstein. Becker says the information will be made available as soon as Pathway is satisfied that the novel SNPs on its custom chip are validated.”

My Health Results

Unfortunately, I am not yet able to employ Pathway Genomic’s health test because I live in New York state. NY currently requires a physician’s involvement in DTC testing, which, in my opinion, is a paternalistic barrier between NY residents and their genetic sequence. Pathway noted that hopefully this problem will be fixed within the near future, at which time I will access and share my health results.

Late last fall, Family Tree Magazine requested nominations for the best genealogy blogs, and then opened voting for the nominated list.  Yesterday, they announced the winners of the voting.  Diane Haddad wrote about the announcement on the Genealogy Insider blog, and Maureen Taylor wrote the article that will appear in the May issue of Family Tree Magazine: “Fab Forty.”

I am very pleased and honored to announce that TGG was selected as one of the 40 Best Genealogy Blogs, in the category of genetic genealogy. I would like to thank everyone who nominated and voted for me.  I have been very fortunate over the last few years to interact with a fascinating array of readers, and I am thankful for every one of them.

When I started blogging in February 2007 (I just recently counted my third anniversary of TGG!), there were very few blogs in the genetic genealogy space.  Today there are a number of interesting and well-written genetic genealogy blogs.  See my recent round-up at “10 Great Blogs for Genetic Genealogists.“  Each of these blogs is well worth adding to your reading list.

I would also like to congratulate all the other blogs on the list, as I am truly honored to be listed among them.  I am an avid reader of the vast majority of them, and I look forward to so much more.  Here are few links to their own announcements:

• Best 40 Blogs: Tracing the Tribe is honored!
• Woo Hoo! Yippee! Yahoo! Hooray!
• Genea-Musings made the Top 40 Blogs list
• Could the Day Get Any Better?
• Giddy
• The Family Tree Magazine 40 Best Genealogy Blogs

And here is the full list of winners.  A huge congratulations to them, as well as to all the blogs that were nominated:

All-Around

• Creative Gene by Jasia Smasha
• footnoteMaven by footnoteMaven
• GeneaBloggers by Thomas MacEntee
• Genea-Musings by Randy Seaver

Cemetery

• The Association of Graveyard Rabbits by several authors
• Granite in My Blood by Midge Frazel

Corporate

• Ancestry.com Blog by various authors

Genetic Genealogy

• The Genetic Genealogist by Blaine Bettinger

Heritage

• George Geder by George Geder
• Scottish Genealogy News and Events by Chris Paton
• Small Leaved Shamrock by Lisa
• Steve’s Genealogy Blog by Stephen Danko
• Tracing the Tribe: The Jewish Genealogy Blog by Schelly Talalay Dardashti

How-To

• Family Matters by Denise Barrett Olson
• Genealogy Guys by George G. Morgan and Drew Smith
• Genealogy Tip of the Day by Michael John Neill
• The ProGenealogists Blog by various authors

Local & Regional

• California Genealogical Society and Library Blog by Kathryn Doyle
• Sandusky History by the staff of the Sandusky (Ohio) Library Archives Research Center
• Midwestern Microhistory by Harold Henderson

News & Resources

• The Ancestry Insider by theAncestry Insider
• DearMyrtle by Pat Richley-Erickson
• Eastman’s Online Genealogy Newsletter by Dick Eastman
• GenealogyBlog by Leland Meitzler

Photos & Heirlooms

• The Family Curator by Denise Levenick
• Shades of the Departed by footnoteMaven

Personal & Family

• Ancestories: The Stories of My Ancestors by Miriam Midkiff
• Apple’s Tree by anonymous
• BeNotForgot by Vickie Everhart
• Educated Genealogist by Sheri Fenley
• Greta’s Genealogy Blog by Greta Koehl
• Heritage Happens by Cheryl Fleming Palmer
• Herstoryan by Herstoryan
• Janet the Researcher by Janet Iles
• Kinexxions by Becky Wiseman
• Little Bytes of Life by Elizabeth
• Our Georgia Roots by Luckie Daniels
• WeTree by Amy Coffin
• West in New England by Bill West
• What’s Past is Prologue by Donna Pointkouski

Daniel Vorhaus of the Genomics Law Report is also a member of the steering committee of the GET (“Genomes, Environments, Traits) Conference 2010. This unique conference, to be held on Tuesday, April 27, 2010 will gather together some of the biggest names in personal genomics, as well as most of the limited number of the people who have released their entire genomes to the public. Tickets for the conference go on sale today here.

As part of the GET Conference 2010, the new BioWeatherMap initiative will officially launch. According to the project’s website, BioWeatherMap is “a global, grassroots, distributed environmental sensing effort aimed at answering some very basic questions about the geographic and temporal distribution patterns of microbial life. Utilizing the power of high-throughput, low cost DNA sequencing and harnessing the drive of an enlightened public we propose a new collaborative research approach aimed at generating a steady stream of environmental samples from many geographic locations to produce high quality data for ongoing discovery and surveillance.”

Unfortunately I will be unable to attend the GET Conference 2010, although I’m sure I and anyone else interested in the Conference will all be able to participate in at least a limited manner through social media.

The Press Release

Personal Genome Pioneers to Convene at the Inaugural Genomes Environments Traits (GET) Conference: Luminaries at landmark gathering to shed light on diverse impact large-scale personal genome sequencing will have on everyday life

BOSTON, Mass. (February 18, 2010) — Worldwide fewer than 20 individuals have had their genomes sequenced and made publicly available, and on Tuesday, April 27, for the first time, nearly all of them will appear together, along with a select group of business leaders and scientific visionaries, to share their experiences and to provide a look ahead at how personal genomics will rapidly and broadly impact society. This historic gathering will take place at the inaugural Genomes Environments Traits (GET) Conference as part of a day-long thought leadership forum, exploring the myriad ways in which the integration of personalized genomic, environmental and trait information will shape the ways in which we access and interact with our genetic information.

“The GET Conference 2010 marks the last opportunity in history to gather a majority of individuals in the world with public personal genome sequences in a single venue,” says George Church, founder and principal investigator of the Personal Genome Project and professor of genetics at Harvard Medical School. “With rapid advances in technology, the number of individuals with personal genome sequences is expected to rise dramatically, from dozens today to thousands by 2011 and a million or more individuals within the next few years.”

The morning portion of GET Conference 2010 will feature wide-ranging discussions during which personal genome pioneers and globally recognized leaders of genomic science and industry, including Misha Angrist, George Church, Jay Flatley, Henry Louis Gates, Jr., Rosalynn Gill, Seong-Jin Kim, Greg Lucier, James Lupski, Stephen Quake, Dan Stoicescu and James Watson, will share their experiences and discuss the future of personal genomics. Award-winning science journalists Carl Zimmer and Robert Krulwich will moderate the discussions.

These experts will re-convene in the afternoon for a series of breakout sessions with other thought leaders and conference participants in a series of intimate discussions focused on the role personal genomes play in understanding ancestry, family life, nutrition, and disease risk, as well as the marketplace for products and services that utilize the analysis of genomic and environmental information, including new drug therapies, consumer products and law enforcement applications.

The afternoon program will additionally showcase:

• Four “prototypes of the future” sessions highlighting the next generation of personalized genomic products, services and activities and moderated by the executive editor of WIRED and author, Thomas Goetz.

• The public debut of the BioWeatherMap initiative, a collaboration between scientists and the public using next-generation sequencing platforms to address the fundamental question: “How diverse is the microbial life around us and how can we use that information to our advantage?”

The GET Conference 2010 will take place on Tuesday, April 27, 2010 from 8:00 a.m. – 8:00 p.m. at the Microsoft New England Research and Development Center in Cambridge, Mass. The event will be limited to 200 registrants. To register for the GET Conference 2010, visit http://www.getconference.eventbrite.com/.

About the GET Conference 2010

The first annual GET Conference will gather 200 scientific, industry and thought leaders in the fields of personal genomics, personalized medicine, microbiomics and systems biology, as well as prominent hedge fund managers, VCs, private investors, and philanthropists, in an intimate venue to consider the present and future of personal genomics.

All proceeds from the GET Conference will benefit PersonalGenomes.org, a 501(c)(3) charitable organization which supports the Personal Genome Project and whose mission is to serve as a global ambassador for emerging technologies and knowledge that will positively impact the health and well-being of humankind. For more information, visit www.getconference.org, or e-mail info@getconference.org.

Conference sponsors include: Alan & Priscilla Oppenheimer Foundation; Knome; Life Technologies; Microsoft; OHO Interactive; Procter & Gamble; Robinson, Bradshaw, & Hinson; Schwartz Communications; and Third Rock Ventures. Limited sponsorship opportunities are still available. For more information email: info@getconference.org.

About the Personal Genome Project

The Personal Genome Project is an open-ended research study that aims to improve the understanding of genetic and environmental contributions to human traits. The project is currently enrolling members of the public who are willing to share their genome sequence and other personal information with the scientific community and the general public. For more information, visit http://www.personalgenomes.org/.

In a move that puts it in more direct competition with personal genomics companies such as 23andMe and deCODEme, the genetic genealogy testing company Family Tree DNA announced today that it will offer a large-scale autosomal test for genealogical  purposes.  The test, which will be available to the public in mid-March, will allow test-takers the opportunity to connect with matching family members across all genetic ancestral lines.  The test will launch at a price of $249.

The Family Tree DNA Family Finder site is now online.

Although other companies such as 23andMe and deCODEme offer similar tests, members of the genetic genealogy community have lamented the fact that their databases are populated in significant part by people who have no interest in genealogy.  Presumably, people who purchase the FTDNA test and become part of that database will be strongly motivated by genealogical interests, and thus will be interested in communicating with genetic relatives.

Family Tree DNA has also indicated that test-takers will be able to download their raw data.  No word yet on what type of SNP chip is being used, or how many SNPs are tested.

The Press Release:

Houston, TX – February 16, 2010 – Family Tree DNA, the pioneer and largest DNA testing company for genealogy purposes, is launching today their newest test – named Family Finder – which will allow connecting with family members across all ancestral lines. “This is the most exciting genetic genealogy breakthrough since the company launched its Y-DNA test, which uncovers relatives in the direct paternal line”, says Bennett Greenspan, founder and CEO of Family Tree DNA.  Initially available to current Family Tree DNA members, Family Finder will be offered to the general public in mid-March.

While the Y-DNA matches men with a specific paternal line and the mtDNA finds potential relatives only along the maternal line, Family Finder can look for close relationships along all ancestral lines.  Anyone, regardless of their gender, may now confidently match to male and female cousins from any of their family lines in the past five generations.  The science – linked blocks of DNA across the 22 autosomal chromosomes are matched between two people.

Based on this concept, Family Tree DNA bioinformatics team has worked extensively to develop the calculations that would yield the closeness of the relationship.  The possibilities to find matches abound: grandparents, aunts and uncles; half siblings; first, second, third and fourth cousins; and, more tentatively, fifth cousins.  Unlike other companies that offer autosomal testing for relationship purposes, the Family Tree DNA “Family Finder” focuses on the genealogy of the test takers: matching contact names and email addresses are readily available for easy communication, and special tools have been developed to assist in the genealogy and matching process.

About Family Tree DNA

Founded in April 2000, Family Tree DNA was the first company to develop the commercial application of DNA testing for genealogical purposes, something that had previously been available only for academic and scientific research. Almost a decade later, the Houston-based company has a database with over 280,000 individual records – the largest DNA database in genetic genealogy, and a number that makes Family Tree DNA the prime source for anyone researching recent and distant family ties. In 2006 Family Tree DNA established a state of the art Genomics Research Center at its headquarters in Houston, Texas, where it currently performs R&D and processes over 200 advanced types of DNA tests for its customers.

In October 2008, I reviewed an article by Dr. Alondra Nelson in the journal Social Studies of Science entitled “Bio Science: Genetic Genealogy Testing and the Pursuit of African Ancestry” (Social Studies of Science 2008 38: 759-783).  The article was about the complex interpretation of the results of genetic genealogy testing by African-Americans and black British.  Dr. Nelson is Associate Professor of Sociology at Columbia University in NY.

On Friday, an article by Dr. Nelson appeared in The Chronicle of Higher Education entitled “Henry Louis Gates’s Extended Family,” which is an introduction and review of the current PBS documentary miniseries Faces of America. Regarding the genetic testing aspect of the show, Nelson writes:

If the findings of conventional genealogical research produce fireworks, the results of the DNA analysis generate shock and awe. “Know Thyself,” the final episode, which shares its title with the slogan of Knome Inc., focuses mostly on genetic genealogy. Whereas prior shows relied heavily on analysis of mitochondrial DNA (mtDNA) and Y-chromosome (Y-DNA), yielding results that included at most about 2 percent of one’s complete genetic inheritance, in Faces techniques are used that probe deeper into more of the genome.

The technical aspects of genetic ancestry tracing are explained, but without sufficient social context, much the way a manual can tell you how to operate a car without explaining automobiles’ role in modern industry, the development of suburbia, or the emergence of youth culture. We can’t hold a documentary for a general audience responsible for not presenting a complex metanarrative on the philosophy of genetic science. But we can expect some acknowledgment and interpretation of technology’s limits.

It is likely that some genetic genealogists will instantly disagree with or discredit Nelson after reading this article, since it might appear that she is being critical of genetic genealogy, but I would disagree.  In my opinion, however, it is important to be aware of Nelson’s concerns, since they are concerns shared by many people across the globe.  For better or for worse, Faces of America will be many individual’s first introduction to genetic genealogy, and without seeing the whole series yet, I hope that Gates does a fair job of introducing this wonderful technology without glossing over its limitations, particularly as they might apply to minority or marginalized populations.

That being said, I also believe that the individual shares the responsibility for understanding this technology before deciding to undergo testing.  We are all responsible, in part, for our own education.

Rather than discrediting genetic genealogy, I believe that Nelson embraces the ability of genetic testing to help some people – and ultimately society – understand our present and our past, as well as how we are all so closely related, either through our genetics or through our shared history.  Indeed, the end of the article ends with the note that Nelson “is at work on a book about genetic ancestry tracing and African diaspora culture,” which I look forward to reading.

What are your thoughts after reading Dr. Nelson’s article?

Faces of America continues every Wednesday evening from 8 – 9 p.m. ET on PBS stations through March 3rd.

Both 23andMe and deCODEme (using my 23andMe data) have interpreted my SNP results to indicate that I have a greatly increased genetic risk for Type 2 Diabetes.  This post interprets the information from both companies and applies some of the primary research that the companies relied upon to predict my risk.  Hopefully, this information will be useful to me as I strive to more completely understand my own risk factors, and will be useful to others as an example of using SNP data to potentially understand more about your health.

I. The Genetics

My 23andMe analysis makes it clear that I have an elevated risk for type 2 diabetes:

And, upon clicking upon the link, I receive the following additional information:

deCODEme, which used my 23andMe data, provides a similar interpretation:

Three of the major risk alleles analyzed by both 23andMe and deCODEme are the following (with my genotype for each allele).  There are others, but interestingly these three have been examined together in several studies.

(note that the rs5219 SNP – which is the risk allele from numerous research studies -  is 90% correlated with rs5215, which is the SNP tested by deCODEme, so keep this in mind if you tested with that company).  You can learn more about the other two SNPs at SNPedia (rs7903146 and rs1801282).  EDIT - a previous version stated that 23andMe tested the correlated rs5215 SNP; that was incorrect.  23andMe does test the rs5219 SNP.

As you can see, from the six possible risk alleles for the above three SNPs, I happen to have all six!

Apparently this is very rare, as is shown in this Figure 2 from an October 2006 article in PLoS Medicine (Weedon et al. (2006) Combining Information From Common Type 2 Diabetes Risk Polymorphisms Improves Disease Prediction. PLoS Med 3(10): e374. DOI: 10.1371/journal.pmed.0030374):

Only about 1-2% of the >6,000 people in that study had all six risk alleles. The researchers found that each additional risk allele increased the odds of type 2 diabetes by 1.28 times, and participants with all six risk alleles had an odds ratio of 5.71 compared to those with no risk alleles.  From the paper:

“An alternative way to assess the impact of susceptibility alleles on disease risk is to use positive predictive values. Assuming a background risk of 5% in the general population, the probability of people with zero risk alleles developing type 2 diabetes is 2% compared to 10% for people with all six risk alleles.”

The presence of all six alleles, therefore, doubles the risk of developing type 2 diabetes. Indeed, both companies interpreted my genotype to suggest a vastly increased lifetime risk for diabetes. 23andMe showed a 35.9% lifetime risk compared to 23.7% for the general public (an increase of 51%), while deCODEme showed a 40.2% lifetime risk compared to 25% for the general public (an increase of 61%).

II. The Family History

Not surprisingly, I have a strong family history of type 2 diabetes. I won’t give any further specifics to preserve anonymity (as much as this has already revealed half the genotype of each of my parents), but I can say that type 2 diabetes has had – and continues to have – an impact on close relatives.

III. Conclusions

So what does this all mean? And why post about such a personal issue?

In some ways this post is to further prove the point that I, personally, am not afraid of my genetic information. I’m not afraid of any potential psychological effects it might have, nor am I afraid of any repercussions of sharing my genetic information with others. It is certainly clear that I lost the genetic lottery when it comes to diabetes risk, but there is no genome so perfect that it lacks at least one serious risk. Accordingly, when discriminating against others based on their genetic information, we are discriminating against our own imperfect genome.  By discovering or sharing our genetic information we not only learn about ourselves as a singular person, but we learn about the larger ‘ourselves’ as a species.

Further, this post is my attempt to rebut the notion of genetic exceptionalism, the idea that genetic information is somehow different from other types of personal information and thus requires an increased level of scrutiny and/or protection. For me personally, interpreting my genotype is no more dangerous than the receiving the results of a home glucose test. Indeed, the results of the glucose test represent a current reality while the genotype merely suggests a future possibility.

Although I won’t go so far as to say that there is never any danger to anyone upon receiving genetic information, I will go so far as to say that it should be the individual, not the government, that decides whether the danger exists.

IV. The Future

The fact that I’m not afraid of my genetic information, or that I don’t believe in genetic exceptionalism, doesn’t mean, however, that I should ignore my genotype.  In my case, my genotype has reinforced and added to my understanding of my diabetes risk, and it would be foolish to waste this opportunity to shape my future.

Time to hit the gym.

Just took the @23andMe Longevity Survey – http://bit.ly/8DYAKC about 14 hours ago  

@tgoetz: http://bit.ly/4rkgsW – looking forward to get a fitbit; finally a scientific way to tell whether it really was a bad night’s sleep about 14 hours ago  

I would have guessed more – “Americans Consume 34GB of Content a Day” at Lifehacker – http://tinyurl.com/yl8y6hc 1:47 PM Dec 9th  

I guess I should drive safer – RT @ABAJournal: Lawyers Second Most Likely Professional to Be in a Car Crash http://bit.ly/4pzRlZ 11:54 AM Dec 9th  

I use @HootSuite to filter: #mhco @Rex7 – you must filter the firehose of social media. 11:29 AM Dec 9th  

Listening to Martindale Connected social media webinar for lawyers – @nikiblack speaking re: social media stats http://bit.ly/7Jyyxq #mhco 11:18 AM Dec 9th  

RT @genomicslawyer: Genes vs. environment and the role of genomic “dark matter” http://bit.ly/5TcsTl (HT @drjonboyg) 7:55 AM Dec 9th  

(*consultant) RT @genomicslawyer: Kevin Davies of @bioitworld has a nice review of the @PathwayGenomics DTC offering http://bit.ly/83J1vD 3:33 PM Dec 8th  

Thank you very much for the Genea-Speak Award @megansmolenyak! Your award was well-deserved! http://post.ly/EPBZ 8:47 AM Dec 8th  

RT @genomicslawyer: George Church shares his thoughts “In Support of Open Access for Genomic Research” http://bit.ly/7KDkuY 8:42 AM Dec 8th  

Posted via web from Blaine Bettinger’s Lifestream

DAVIDE at the European Genetics and Anthropology Blog has an interesting post regarding 23andMe’s Ancestry Painting, at “Taking a closer look at your inter-continental ancestry results at 23andMe.”  In the post, he describes how to “rummage through the Flash data behind the “Ancestry Painting” presentation” to learn more about the SNPs involved an admixed Ancestry Painting.  The post includes the incredibly simple directions:

First of all, you have to make sure you’ve got the free Firebug plug-in installed. Right click on the little bug in the lower-right corner of your browser window, and choose “Enable all panels”.  Then left click the same bug icon, which should make a whole new section appear at the bottom of the screen.

Go to the “Ancestry Painting” page, and wait till it loads up your “Chromosome View”.  Once it does, select “Response”, and you should get the following link in bold within your new section: POST https://www.23andme.com/you/fetchpaint.  Click on it and the desired data should appear.

Hacking My Results:

Let’s use the technique to look at my own results (as I’ve mentioned before, I’m not concerned about sharing my results publicly).  Here is a snapshot of my Ancestry Painting:

And here are my results using the Firebug plug-in:

According to the Ancestry Painting (and now the Firebug results), I have Asian segments on chromosomes 2, 6, 10-13, and 17-19, with chromosome 6 being the most admixed.  I also have African segments on chromosomes 6 and 12 (In his post, DAVIDE explains why the “Y” stands for African ancestry and the “C” stands for Asian ancestry.):

• 2: [218458622, 239581072, \"AC\"]
• 6: [52493023, 74927540, \"AC\"], [83148896, 93639689, \"AC\"], [162840363, 166917167, \"AC\"], [166917449, 170750927, \"CY\"]
• 10: [4830167, 10647503, \"AC\"]
• 11: [188510, 2518807, \"AC\"]
• 12: [116756453, 128147809, \"CY\"]
• 13: [42269010, 61029958, \"AC\"]
• 17: [2996430, 9991868, \"AC\"]
• 18: [45648536, 51574142, \"AC\"]
• 19: [59513631, 63779291, \"AC\"]

So, for example, my largest Asian segment begins at position 218458622 on one of my chromosome 2 and ends at 239581072.

Yet another interesting tool to use with your 23andMe results.

Whit Athey has announced publication of the Fall 2009 issue of the Journal of Genetic Genealogy.  This is Whit’s last issue as Editor, and I’d like to extend my sincere appreciation to him and all the work he has put into JoGG over the past 5 years.  Every issue requires hours of work to coordinate reviews and format articles, among the many other aspects of publishing.  Whit’s tireless work has helped add so much to the field.

I’d also like to announce that with Whit’s departure I will be assuming the position of Editor of JoGG.  I’m excited about this endeavor, and I look forward to working with the members of JoGG as well as the authors of the most recent research in the field.  So, if you have an article or even just an idea for an article you’d like to discuss, please fee free to contact me (blaine_5 at hotmail.com, or blainebettinger at gmail.com).

The Fall 2009 Issue

Included in the Fall 2009 issue are the following articles:

• Editor’s Corner – “It’s Time to Retire” – Whit Athey
• ‘Satiable Curiosity – “Mix and Match: DNA Stories from an Ancestor” – Ann Turner
• Interview With Bennett Greenspan

Reports

• Y-STR Haplotypes and Predicted Haplogroups in the Slovak Haban Population
• HLA Polymorphisms in Forros and Angolares from Sao Tome Island (West Africa): Evidence for the Population Origin
• The Advantages of a Dual DNA/Documentary Approach to Reconstruct the Family Trees of a Surname
• Where Have All the Indians Gone? Native American Eastern Seaboard Dispersal, Genealogy and DNA in Relation

Special Section: Cluster Analysis and the TMRCA Problem

• Introduction
• Y-STR Mountains in Haplospace, Part I: Methods
• Y-STR Mountains in Haplospace, Part II: Application to Common Polish Clades
• DNA Genealogy, Mutation Rates, and Some Historical Evidence Written in Y-Chromosome, Part I: Basic Principles and the Method
• DNA Genealogy, Mutation Rates, and Some Historical Evidence Written in Y-Chromosome, Part II: Walking the Map
• The Use of Correlation Techniques for the Analysis of Pairs of Y-Chromosome DNA Haplotypes, Part I: Rationale, Methodology and Genealogy Time Scale
• The Use of Correlation Techniques for the Analysis of Pairs of Y-Chromosome DNA Haplotypes, Part II: Application to Surname and Other Haplotype Clusters

Familybuilder, launched in 2007, is a genealogy company that ranks among the top 10 online genealogy services in the world with over 17 million users and over 120 million family tree profiles.  Late last year the company began offering a genetic genealogy product, as I wrote about here on the blog (see “Familybuilder Announces DNA Testing”).

Disclosure: This is a review of Familybuilder’s Y-DNA service using a kit I received free of charge for purposes of this review.  Please note that this is not meant to be an endorsement but merely a review of the Y-DNA service offered by Familybuilder.

The results of a Familybuilder Y-DNA test includes:

“The Migration Map for you and your ancestors, your 17 Markers, your Haplogroup and the History of your DNA.  In addition, the ability to share your results with family and friends on social networks such as Facebook and MySpace as well as a downloadable PDF (suitable for framing).”

I received the following kit in the mail for the Y-DNA testing, which included a swab, detailed instructions, and a return envelope:

Since I have already tested my Y-DNA, I asked a male relative to take this Y-DNA test.  This surname, Conger, is believed to have originated with a John Belconger who emigrated in 1665 from Great Yarmouth, Norfolk, England to Newbury, Massachusetts and later Woodbridge, New Jersey.  Although there are likely many descendants of John Belconger in the United States, as far as I know there is only one other Conger who has undergone genetic genealogy testing, as discussed below.

After roughly four weeks, I received an email from Familybuilder that my DNA test results were ready (although my name is listed, these are a relative’s results, not mine).  Not surprisingly since the surname appears to have originated in Western Europe, the Y-DNA belongs to Haplogroup R:

With the results, Familybuilder included information about the predicted haplogroup.  The description for Haplogroup R, for example, includes the following snippets:

“ORIGIN – Haplogroup R descended from Haplogroup P (M45) in Central Asia.  About 30,000 years ago, one of the tribes in Central Asia moved towards the European subcontinent.  It is in this group that the first M207 mutation (Haplogroup R) occurred.”

“MIGRATION AND SPREAD – The highest frequency of Haplogroup R is found in Western Europe, where populations carrying R1b typically reach 75% frequency.”

Familybuilder also compares an individual’s results to results in their database in order to discover potential matches.  Unfortunately, as shown below, there were no matches with the Conger Y-DNA profile from the Familybuilder database:

Since there were no results in the database, I entered the results into Ysearch to potentially identify matches (see Ysearch User ID 4KTQB).  A search for matches with a genetic distance of 0 among people who tested at least 13 of the same markers turned up 19 matches, although none with the same “Conger” surname.  Outside of the United States, the most distant male ancestors for these matches are mostly from the U.K.

Interestingly, there is another Conger in the Ysearch database (User ID 4MSTZ), but his Y-DNA belongs to Haplogroup J2.  With these two tests, therefore, we have shown for the first time that not all Congers in the U.S. are descended from the same man.

Familybuilder also offers a “Print My DNA” and “Share My DNA” features, which allow users to share their results with friends and family.  The Share My DNA feature formats the results, for example, for easy posting to websites or social media such as Facebook.  See the following link for a nice display of the Conger results.

Lastly, Familybuilder also offers a new “Groups” feature as of October of 2009.  From the recent press release:

“Familybuilder DNA has added a new feature within their ancestral DNA Test Kits called DNA Groups. This feature allows consumers to create and manage their own groups based on commonalities such as a shared haplogroup, surname, national origin or current location. With DNA tests being a major tool for people searching for more information on their family histories, this feature takes the collaborative nature of genealogists to a digital forum. “By creating groups, users can collaborate with one another to piece together their family stories,” said Ilya Nikolayev, CEO of Familybuilder. Recently adding a DNA Matching Tool, this new feature allows consumers to engage with one another in new ways beyond traditional genealogical mechanisms.”

A Familybuilder Y-DNA test normally costs $59.95.  Familybuilder uses a state-of-the-art laboratory facility with ISO/IEC and ASCLD Lab Accreditation for testing.

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