The Genetic Genealogist

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Archive for the "DNA in the News" Category


Sequencing the Genome of Sitting Bull and Other Famous People

ScienceNews reports that researchers led by Eske Willerslev at the University of Copenhagen are attempting to sequence the genome of legendary Native American “Sitting Bull” (see “Genome of a Chief”).

Earlier this year (2010), Eske Willersleve announced the successful sequencing of approximately 80% of the genome of “Inuk,” a man from Greenland who left behind a few small fragments of bone and four hairs frozen in permafrost when he died about 4,000 years ago (see “Long-Locked Genome of Ancient Man Sequenced”).  Using these ancient DNA sequencing techniques, Willersleve’s group is analyzing DNA from other samples.

One of these samples is a lock of hair from Sitting Bull.

Sitting Bull (c. 1831 – Dec. 15, 1890) was a Hunkpapa Lokota Sioux born in South Dakota.  Sitting Bull played an important role in the June 25, 1876 Battle of the Little Bighorn, and later toured as a performer in Buffalo Bill’s Wild West show.

It is not clear from the ScienceNow article, but the lock of hair being used for the analysis could be the same lock of hair that was repatriated to Ernie LaPointe, the great-grandson of Sitting Bull, in December 2007 (see “Assessment of a Lock of Hair and Leggings Attributed to Sitting Bull, a Hunkpapa Sioux, in the National Museum of Natural History, Smithsonian Institution”).  Ernie LaPointe is believed to be the closest lineal descendant of Sitting Bull, and one of his few remaining descendants (see “Smithsonian traces Sitting Bull’s descendants”).  The lock of hair was acquired from Sitting Bull’s body upon his death in 1890 by U.S. Army surgeon Dr. Horace M. Deeble, and when Deeble died in 1896 it was loaned to the National Museum of Natural History.

It’s unknown when the researchers plan to release their results.  The ScienceNews article mentions that one of the researchers, Cristina Valdiosera, revealed the plan to sequence Sitting Bull’s genome at an August 2010 scientific meeting:

“Valdiosera said that the researchers have the approval of Sitting Bull’s descendents to perform DNA tests on a sample of his hair, and that the team is trying to extract a full genome. If so, his would become the first ancient, non-frozen, Native American genome sequenced.”

Interestingly, it appears that working with Sitting Bull’s genome may be a life-long dream for Willersleve (see “Fossilized feces found in Oregon suggest earliest human presence in North America”):

“[Willersleve] said his own interest in the subject [of ancient American DNA] was sparked by a boyhood fascination with Sitting Bull and other American Indians.”

Sequencing Famous Genomes

As new techniques for sequencing ancient or low-quality DNA samples are developed, researchers will begin to analyze any famous or ancient genome they can get their hands on, which is already beginning to happen.  As a genealogist, I know very well the affiliation humans have for keeping mementos of the past.  There are probably hundreds of famous and ancient DNA samples waiting their turn for sequencing.

Off the top of my head, here are 5 people – either known or likely to have DNA kicking around – that I would nominate for analysis:

  • Albert Einstein;
  • Abraham Lincoln;
  • Ötzi (I believe this one is already in the works);
  • Juanita the Peruvian Ice Maiden (a 600-year-old mummy); and
  • My great-grandmother Helen (hey, I can’t deny my genealogy side!).

Whose genome would you nominate for sequencing?

Ethical Issues

The ScienceNews article notes “the researchers have the approval of Sitting Bull’s descendents to perform DNA tests on a sample of his hair.”  Certainly they needed permission to obtain DNA from the hair clipping, but did they need permission to sequence that DNA? (setting aside for the moment the many ethical concerns regarding Native American remains).

For example, if I find a hair clipping in a book I purchased at an estate sale, do I have a duty to find the owner’s descendants and ask for permission before sending it away for sequencing?  What if the hair clipping is clearly labeled with the owner’s name and other identifying information?  Further, can I leave instructions for my descendants that they do not sequence or give permission to sequence my DNA?

I’m not a believer in genetic exceptionalism, so I look outside the realm of DNA for insight.  If that book I’d purchased at the estate sale was an old diary or journal, it most likely would not cross my mind to contact the author’s descendants before reading it.  And, interestingly, that diary or journal is much more likely to reveal personal information about the author than anything I could possibly discover in their genome.

What are your thoughts?  What permission might be required when sequencing ancient or famous DNA?

Welcome, Doctor Radio Listeners!

Doctor Radio

I was recently asked to participate in a discussion with Dr. Deb Neklason, Ph.D on the satellite radio channel “Doctor Radio,” hosted by Dr. Ira Breite.  We largely spoke about a 2008 study, led by Dr. Neklason (who I thought did a wonderful job of explaining the science and results in layman’s terms during the show), in which it was concluded that a gene that often causes cancer traces back to a Mr. and Mrs. George Fry who came to America in 1630.  I have a write-up of the study here (http://www.thegeneticgenealogist.com/2008/01/03/a-single-colon-cancer-gene-traced-to-1630-the-future-of-genetic-genealogy/).  There was also some brief discussion of mtDNA testing and the future of personal genomics.

Here is Dr. Breite’s description of this morning’s show:

“Colon Cancer is extremely common in the United States: it is the number two cancer killer of both men and women. Some families have a mutation which makes relatives who have it have an even higher risk than the general population. Now it turns out that this gene may have literally come over, if not with the Mayflower, then pretty darn close to that! Join me and Dr. Deb Neklason, Ph.D and Dr. Blaine Bettinger as we talk about how a single mutation in a single gene in a single person from 1630 has led to thousands of colon cancer cases today.”

For new visitors from the show looking for more information, feel free to browse the archives and featured articles here at The Genetic Genealogist.

Genomes Unzipped

I’m excited to announce the launch of a new personal genomics blog called “Genomes Unzipped.”  It’s authored by some of the best and brightest bloggers (and non-bloggers) in this area, including:

The blog (although it sounds like this will be much more than a blog!) promises the following:

Welcome to Genomes Unzipped, a new group blog bringing together experts in the scientific, legal, ethical and commercial aspects of genetics. Our goal is to provide you with independent analysis of advances in the field of genetics, with a particular focus on implications for the budding industry of personal genomics. We’ll also be discussing ways in which you can make the most of your own genetic data using online resources and techniques developed by researchers.

If you’re interested in genetic genealogy and/or personal genomics, I highly recommend subscribing to this blog (here) and their Twitter account (@genomesunzipped).  Also, look for a “major announcement” on the blog in the near future laying out some future plans for the group.

I wish everyone at Genomes Unzipped the best of luck, and I look forward to reading!

Personal Genomics and Genetic Genealogy Tidbits

  • There’s a terrific discussion in the comments to “Genetic ancestry testing: people who don’t want to know” about people who refuse to undergo genetic ancestry testing for personal reasons.  I added my own 2 cents at comment 17 trying to explain some of the most common misunderstandings surrounding autosomal DNA testing.

Faces of America and Genetic Genealogy Testing

Randy Seaver at Genea-Musings (“I’m Puzzled by DNA Claims on ‘Faces of America’”) writes about the fourth and last episode of “Faces of America,” a PBS documentary series investigating the ancestry of several famous people in America. This fourth episode included several different types of genetic genealogy to examine the ancestral origins and relatedness of the show’s members.

1. Whole Genome Sequencing by Knome

The first type of genetic genealogy was whole-genome sequencing by Knome of Henry Louis Gates and his father. This analysis examined Henry’s (“Skip’s”) genome for medical conditions and physical traits, and also compared his DNA to his father’s, thereby allowing them to deduce the entire DNA contribution from his deceased mother. This segment was actually quite moving, as Dr. Gates was able to establish this intimate connection to the mother that he and his father obviously missed very much.

2. SNP Analysis by 23andMe

The second type of analysis was large-scale SNP analysis of everyone’s genome by 23andMe. The show primarily focused on the Ancestry Painting, which uses information from throughout the entire genome to determine a very rough estimate of your ancestry. Ancestry Painting breaks down the genome into three categories: Asian/Native American, European, and African. Stephen Colbert, for example, was 100% European, while Eva Longoria was 70% European, 27% Asian/indigenous, and 3% African. I don’t recall any mention or use of 23andMe’s medical or physical trait analysis in the show.

3. mtDNA and Y-DNA Haplogroups

The third type of genetic genealogy was haplogroup testing. In this segment, Dr. Gates spoke with Dr. Bryan Sykes of Oxford Ancestors, which was interesting because it was the first time I’ve ever seen him speak. There didn’t appear to be any surprises here.

4. Mysterious Genomic Comparisons

The fourth type of genetic genealogy testing in the episode is what has caused so much confusion among genealogists. Dr. Gates introduced David Altschuler and Mark Daily as “research geneticists at the Broad Institute.” According to Dr. Gates, Altschuler and Daily have “pioneered a new kind of genetic analysis that can determine if any two people share a common ancestor within the last several centuries.” Although Dr. Gates repeatedly said within the last “250 years”, the scientists repeatedly said “hundreds of years.” A slight difference perhaps, but I tended to disregard the “250 years” as more of a simplification by Gates for purposes of the show rather than any actual limit discussed by the scientists. Regardless, this doesn’t make their analysis any more clear.

Unfortunately, I have been unable to locate any discussion, literature, or publication by Altschuler or Daily (or anyone else) discussing this “new kind” of genetic analysis. If you’re familiar with one, please point it out in the comments so that we can understand their analysis.

Interestingly, the members of the series apparently did not match each other in 23andMe’s Family Finder, since the 23andMe system would have picked up on that, and further analysis would not have been necessary. And since it appeared that they did NOT undergo further testing, I imagine they used their 23andMe data for the analysis by Altschuler and Daily.

As an example of this comparison, according to Altschuler and Daily, Yo-Yo Ma (who was 100% Asian in his 23andMe Ancestry Painting) is related to Eva Longoria (who was 70% European, 27% Asian/indigenous, and 3% African) within the last few centuries. It obviously wasn’t through Native American DNA since any connection there was many, many thousands of years ago. Does Longoria have more recent Asian DNA perhaps? It seems unlikely (but is certainly not impossible). The fact that this was simply glossed over was an oversight.

I’m having a hard time understanding the results from Altschuler and Daily.  Can anyone else shed any light on their analysis?

Conclusion

Despite the confusion created by the fourth type of genetic analysis, I really enjoyed this episode of Faces of America. As always, it was interesting and entertaining to watch them receive their results and explore their ancestry.

What are your thoughts?

Thank You: The Genetic Genealogist Named Among Family Tree Magazine’s 40 Best Genealogy Blogs

Family Tree Magazine 40 Best Genealogy Blogs

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:

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

Cemetery

Corporate

Genetic Genealogy

Heritage

How-To

Local & Regional

News & Resources

Photos & Heirlooms

Personal & Family

Announcing the GET Conference 2010

get-genomes-environments-traits_1266501683140

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/.

Columbia Professor Alondra Nelson Reviews The PBS Series “Faces of America”

Faces of America

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.

Genetic Genealogy Tidbits

  • Linda Avey, co-founder of 23andMe, has started a new blog entitled The Life & Times of Lilly Mendel.  I’m looking forward to some interesting reading as Linda establishes the Brainstorm Research Foundation dedicated to the study of Alzheimer’s disease.

The Future of Genetic Genealogy – Tracing DNA To Individual Ancestors

I once told someone that in addition to learning about their ancient origins (such as Y-DNA and mtDNA haplogroups), many genetic genealogists would ideally like to match every portion of their DNA with the contributing ancestor.  Although this might seem to be beyond the reach of current genetic ancestry testing, it has actually already begun.  The family compare function of 23andMe, for example, is already being used by genetic genealogists for just this purpose; people who have matching DNA segments can compare ancestry and attempt to identify the ancestor who might have contributed the DNA.

For obvious reasons, medical geneticists have for many years been using genealogy to trace founder mutations in populations.  For example, in 2008 scientists traced a colon cancer gene in the United States to a Mr. and Mrs. George Fry who arrived in the New World around 1630 (see A Single Colon Cancer Gene Traced to 1630).

Tracing A Heart Disease Gene in South Africa

Now, scientists in South Africa recently announced that they had traced a gene responsible for a hereditary heart disease called familial heart block (PFHB) to a Portuguese immigrant who arrived in South Africa in 1696.

From the article:

“The rogue gene was found in three branches of an Afrikaans familial group that can trace its ancestry back to one Portuguese individual who landed on the shores of the Cape at the end of the 17th century.

Prof Andries Brink, former dean of Stellenbosch University’s faculty of Health Services, first described the disease in 1977 and published a paper at the time in the South African Medical Journal. The paper, titled Progressive familial heart block – two types, was co-authored by genealogy specialist Marie Torrington.

It was Torrington who discovered that the disease was brought into South Africa by the Portuguese immigrant who arrived in South Africa in 1696. He subsequently married a woman of Dutch descent, and genetics has carried PFHB down all the generations since then. No matter where in the country they live, every South African suffering from PFHB today is descended from that couple.”

The Journal of Clinical Investigation article is here.

The World of Genetic Genealogy and DTC Genetic Testing Never Sleeps…

In the past week there have been so many articles and posts about either genetic genealogy or DTC genetics that I’m writing them up as a summary post rather than individually.

The New York Times Tackles DTC Genetic Testing

An article in yesterday’s New York Times by Jane E. Brody – “Buyer Beware of Home DNA Tests” – argues that DTC genetic testing is fraught with danger (the article and some of Brody’s arguments are summarized by Grace Ibay of Genetics & Health: “Seven Reasons Why Home DNA Tests Are Hype”).  The author even lumps in genetic genealogy (which has been around for over 9 years now, hardly a “new industry” that has sprung up “to cash in” on new science):

“As a source of entertainment at so-called spit parties or an effort to trace genetic ancestry, the tests might be seen as relatively harmless (unless someone is appalled to discover who their ancestors might be).  But for the many people who are bypassing the medical profession to determine, they believe, how likely they are to develop a life-threatening disorder, experts say direct-to-consumer genetic testing is fraught with potential dangers.”

Oh no, people might be “appalled” to discover their ancestors!  I can assure you that people were “appalled to discover who their ancestors might be” long before DNA testing!!  If the results of genetic genealogy testing upsets people, the government better outlaw census records, historical societies, and grandma’s stories after Thanksgiving dinner because the information you’ll receive there will surely be much more ‘appalling.’

Jen McCabe has a terrific thought-provoking rebuttal to the NYT article at ‘Jen’s Posterous’ – “Paternalism and “Patient Beware” Messages Hit DTC Genomic Testing.”  McCabe does a great job of deconstructing the arguments and countering them with her own.  I’ll admit that I’m terribly biased here, but I think that McCabe raises some excellent points.

I wouldn’t be surprised to see more response to this article, including perhaps at Genetic Future or Genomics Law Report.

Dr. Michael Hammer, the Ancestor Hunter

Miller-McCune has a great article – “The Ancestor Hunter” – about the University of Arizona’s Michael Hammer, who is a major contributor to the field of genetic genealogy.  Many readers will know that Dr. Hammer is also FTDNA’s Chief Scientist.  From the FTDNA about page:

“A Biotechnology Research Scientist at the University of Arizona with appointments in the Department of Anthropology and the Department of Ecology and Evolutionary Biology, as well as Director of the Genomic Analysis and Technology Core facility, Dr. Hammer received his PhD in Genetics from the University of California at Berkeley and was a post-doctoral fellow at Princeton and Harvard Universities. He co-authored the first paper showing that present-day Cohanim are descended from a single male ancestor.”

The article discusses Dr. Hammer’s work in the field, including Native American studies, Cohanim relatedness, and co-founding the DNA Shoah Project, for example.

Questioning a Journalist’s Humanity

A few weeks ago I corresponded with journalist Peter Aldhous of NewScientist magazine about his mtDNA results from deCode Genetics.  Without any other information, he wondered if I could identify the probable haplogroup of two mtDNA samples.  One was easily identifiable, while the other was such a garble that I was thrown for a loop.  So, just to be sure, I wrote back to Peter and asked him a now-infamous question:

“This is a strange question, but are you sure this is Homo sapiens?”

Peter writes in his article:

“It’s not every day that an expert queries whether your DNA is human, so when I received this comment by email earlier this month I was somewhat bemused.

“I am not in fact the result of a coupling between human and alien, nor the product of some twisted genetic experiment. Instead, Blaine Bettinger, who blogs as The Genetic Genealogist, had been baffled by a DNA profile generated in error by deCODEme, a leading commercial “personal genomics” service provided by Decode Genetics in Reykjavik, Iceland. The false profile seems to be the fault of a software bug.”

The article was mentioned by GenomeWeb – “You Are Human, Right?” – and there are two extremely good blog posts about the article and the situation by Daniel MacArthur at Genetic Future – “There’s many a slip ‘twixt spit and SNP: errors in personal genomics data” and Dan Vorhaus at Genomics Law Report – “Leveraging the Crowd to Understand Your Genome.”

So what is the take-home message?  Of course it is not that DTC genetic testing is dangerous or requires government regulation; rather, it is that both DTC companies and consumers must be diligent.  As MacArthur writes:

“But the most important piece of advice for personal genomics customers is to engage with your data.  Aldhous only detected these anomalies because he was exploring his own genetic data in multiple ways, cross-checking it against both other data and his own (informed) expectations, and was persistent enough to follow up on the strange results he found.

“That’s a good example for other personal genomics customers to follow: rather than being a passive recipient of genetic forecasts, dig into your data and see if it makes sense, and keep asking questions until it does. In addition to making it more likely that you’ll pick up any errors in your results, you’ll also develop a much deeper understanding both of the nature of genetics and of your own genome.”

And Vorhaus posits that traditional sources of genetic interpretation – i.e. physicians – might be supplemented by other sources, including genome sharing:

“From unraveling bioinformatics errors, as Aldhous did, to adjusting medications, to uncovering unknown genetic variants, the upside of utilizing an open-access approach to personalized genomic interpretation is the ability to allow an untold number of eyes to comb over your data in search of something important (or perhaps just interesting). It seems highly improbable that any combination of DTC genomics companies and open-source genomics resources will ever completely supplant a one-on-one consultation with a trained medical professional, particularly where clinical genetic guidance is required. And concerns over privacy and misuse of data may inhibit many from sharing their own genomic data, at least at present. But there appears to be a significant role for open-source genomics resources to play in the continuing expansion and democratization of personal genomic inquiry.”

I encourage anyone who is interested in DTC genetic testing or just genetic genealogy to read through some of these articles to get a feeling for some of the issues that are currently being discussed regarding this field.