The Genetic Genealogist

An article appears in today’s Asheville Citizen-Times (here) about genetic genealogy. Although brief, the article summarizes the sciences behind Y-DNA and mtDNA testing, and focuses on the use of genetic genealogy to explore the “Clark” surname.

With the famous Thomas Jefferson-Sally Hemmings case, folks began to realize that DNA testing techniques could give answers and break down brick walls as never before.  While DNA will never replace standard research and primary documentation, it can be considered a tool to be used hand in hand with standard research.

via citizen-times.com and familybuilder

Posted via web from Blaine Bettinger’s Lifestream

Five bioethicists have published a paper in today’s issue of Science – The Illusive Gold Standard in Genetic Ancestry Testing (paid subscription required) – calling for government regulation of genetic ancestry testing (aka genetic genealogy). There is an accompanying press release: Stanford Bioethicist and Colleagues Call for Federal Regulation of Genetic Ancestry Testing (another press release is available here).

Overall Thoughts

I highly respect the work of these authors, and I appreciate their efforts to educate the public about these issues. I do, however, wonder why the article was published in Science. The article mostly rehashes arguments found in a number of other articles (including from a very similar 2007 Science article (link) with some of the same authors) without adding any new research or supporting evidence. This is my greatest criticism of this and related articles – much of the hypothesis rests on anecdotal evidence without any corresponding research for support (such as objective social research with genetic ancestry testing customers).

What is different about this article, however, is that it very strongly promotes government regulation of genetic ancestry tests; indeed, this is the overarching purpose of the article. And this is perhaps one of the reasons that the article was accepted for publication: we are presently in a highly-charged atmosphere as a result of the interplay between DTC genetic testing and potential & existing government regulation.

Mutual Responsibility and Accountability

The authors state that one of the issues that emerges long before genetic ancestry tests are available is the collection of DNA samples used to create (and supplement, I suppose) an initial commercial database: “ethical questions about the collection and use of DNA samples must be resolved before researchers are permitted to sample many of the populations needed to approximate the full range of human genetic diversity.”

I agree that it is vital that any and all DNA collection & use from indigenous populations be constrained by clear and well-developed ethical standards. However, while the statement that “incomplete representation of human genetic diversity in existing databases” is a limitation of genetic ancestry testing is entirely accurate, the implication that all testing should await this approximation of completeness is not practical or tenable. Rather, entities doing genetic ancestry testing must continue to inform consumers about this limitation. Imposing a government-imposed definition of “completeness” of a database through regulation is clearly not the solution. Is there anyone on the planet today who can adequately describe what a database that would contain a complete or even approximate representation of human genetic diversity would look like? Certainly not, as research endeavors such as The Genographic Project are still working to describe human genetic diversity.

Finding Common Language

Interestingly, the authors state that “[t]he high stakes of genetic ancestry research require innovative approaches to dialogue, collaboration, and power-sharing between academia, industry, consumers, and community groups.” I think this is a reasonable approach, and one that has been proposed to me in the past by others in the field. The authors go on to state that:

“A first step may be joint creation of a vernacular that characterizes key concepts like probability, association, origin, and ancestry to help minimize variability that exists in how such concepts are understood across fields, communities, and governmental and commercial entities with different vantage points.”

The authors then discuss the term “origin” as an example of a term that is “not transparently or consistently defined.” Creating and enforcing any definition of this term could be problematic, a symptom of the very field in which it will be used. Terms such as “origin,” “ancestry,” “heritage,” and “genealogy” mean something different to each person. Indeed, a recent study has suggested that many customers of genetic ancestry testing adapt the results of the tests into their pre-established sense of self (which includes their personal definitions of origin, ancestry, and heritage). Again, the solution here (as the authors do seem to be suggesting) is education; each entity offering genetic ancestry testing should make the benefits and limitations of genetic genealogy clear.

Government Regulation

As I stated before, this article is the strongest proponent yet of increased governmental regulation of genetic ancestry testing. Yet, as I have previously argued it is education, not government regulation, that can most adequately address the issues the authors raise. For me, the “gold standard” of genetic ancestry testing is and always will be the education of consumers, not the regulation of testing companies. In furtherance of this belief, I have spent the last two years building this blog and associated works in order to help educate these consumers.

The authors conclude that government agencies are best suited to “discover common language and to identify best practices for presenting the limitations of current genomic technologies and the risks associated with over-extrapolating or misinterpreting genetic ancestry results.” The perceived need for regulation in this area necessarily relies on genetic exceptionalism, which holds that genetic information is fundamentally different from all other information about an individual. I’ve never been a believer of genetic exceptionalism, however. I suggest that the argument relies on genetic exceptionalism because the authors promote regulation of genetic ancestry testing, not of all genealogical research. Indeed, almost any type of genealogical research – including traditional paper record research and family interviews – inherently has “limitations” and suffers from the possibility of “over-extrapolation” or “misinterpretation.” Yet the answer here is clearly education, not government regulation of how the limitations of the supposed “facts” in great-great-aunt Maude’s birth certificate can be communicated to the public.

Instead of spending precious time enacting regulations that will do little to educate the public about genetic ancestry testing, let’s work together to increase the education of customers. Middle school and high school students need a stronger education in genetics in order to face the inevitable Genetic Future (see, for instance, the fantastic work of Harvard’s Personal Genetics Education Project), and adults require easily understandable resources available at their fingertips. This, not remote government regulation, will directly benefit consumers.

The Havasupai

The article also mentions researchers’ use of DNA samples from the Havasupai Tribe for various research projects despite the fact that individuals only consented to a study regarding diabetes (more info here). Although I am not familiar with either the law or the facts of this case, it is clear that there should be bright ethical guidelines for researchers to follow in order to prevent what the Tribe (and undoubtedly many others) obviously believes is a misuse of the samples.

However, with all due respect I question the inclusion of this issue in the article. The purpose of the article is to promote the use of government agencies to set industry guidelines (to “identify best practices for presenting the limitations of current genomic technologies and the risks associated with over-extrapolating or misinterpreting genetic ancestry results”). The Havasupai controversy, on the other hand, regards the collection and use of biological samples for research purposes. However, most if not all genetic ancestry testing companies either already have well-established proprietary databases or never engaged in the collection of biological samples from non-customers (instead forming a database from published data); other than The Genographic Project, I am unable to name a single genetic ancestry testing company that is or plans to obtain biological samples from non-customers for research (or any other) purposes. Indeed, even if government regulation of genetic ancestry companies had been established 10 years ago, I don’t think the Havasupai controversy would have been avoided.

Yet, tellingly, almost a third (30.7%) of the news release – about this paper discussing increased regulation of genetic ancestry testing – specifically highlights the very charged Havasupai issue. The issue feels out of place as the article is read, and while it is an example of the need for increased ethical guidelines regarding the collection of biological samples for research purposes, the fact that it does not support or even address the conclusion of the article leads me to question its inclusion.

Conclusion

As I wrote when the ASHG statement was released last year, government regulation in this field will not solve the issues raised by these ethicists (for the reasons stated above, among others).  The answer is consumer education, something that is the responsibility of both the consumer and the testing company.  Indeed, companies should continue to review and revise their customer education policies to ensure that the potential benefit and limitations of genetic ancestry testing are clearly understood by consumers before they purchase a test kit.

An article in the United Arab Emirate newspaper The National (wikipedia) does a terrific job of highlighting recent research from Family Tree DNA.  The story – “DNA could illuminate Islam’s lineage” – discusses research that has attempted to elucidate the Y-DNA signature of Mohammed.  Although Mohammed did not have a son, he had a daughter who married her paternal second cousin, thus passing to Mohammed’s grandchildren the same Y-DNA.  From the article:

“For almost 1,600 years, the title Sharif, Sayyed, or Habib has been bestowed on Muslims who have been able to trace their roots back to the Prophet Mohammed through intricate family trees, oral histories and genealogical records. But now an American DNA lab says it may have identified the DNA signature of descendants of the Prophet Mohammed, and perhaps the prospect of a direct, more accurate means of confirming or identifying such a connection.”

The caveat, as the story briefly mentions by the phrase “if their oral tradition is accurate”, is that no one has an authenticated DNA sample directly from Mohammed.  If there were, this type of research would not be needed.  Instead, the conclusion that it might be Mohammed’s Y-DNA is based on testing individuals who are likely to be descended from Mohammed and looking for a common Y-DNA signature.  Until a DNA sample from Mohammed is obtained (likely an impossibility), the conclusion will not be 100% proven, which means that any information about this conclusion should also contain info about this caveat.  Of course, as all genealogists know, almost none of our conclusions about ancestry/descendancy are 100% proven, especially when they are based at least in part on oral and paper records.

Sharifs DNA Project at FTDNA

There is a public Sharifs DNA Project at Family Tree DNA, which contains the following information:

“Sharif’s are people who claim to be descendant from the Prophet Muhammad, Peace on him, through the two sons of his daughter Fatima Ezzahra, which are Hassan and Hussein. The descendants of Hassan and Hussein sons of Ali Ibn Abi Taleb spread all over the world and particularly in the muslim world from Indonesia to Moroco. There are actually hundreds of thousand of people who are claiming to be be Sharifs. Some of them have a lot of genealogy documents heritated from fathers to sons and which contain many data about the genealogy trees.”

Perhaps the deduced Y-DNA signature is there?

Twitter

I first announced this story early this morning via twitter.  If you are a twitter user and would like to follow me, just click below:

A recent article by Ronald Bailey in reasononline asks whether genetic tests actually need more federal regulation.  It’s probably clear that I strongly support the individual’s right to their own genetic information via DTC testing, but this viewpoint is rarely seen or endorsed in the press.  Bailey concludes:

“There may well be some inaccurate tests and there will certainly be people who mislead customers about the meaning of certain tests. But do we really need additional federal regulation to weed out bad actors? Most evidence suggests that the current tests are fairly accurate, and that customers are not being misled by the results that are reported. All new technologies involve a societal learning process in which some early adopters try it out, explain to others how it works, and find out its flaws—which newer innovators then fix.”

Accuracy of DTC Testing

The article also briefly discussed the accuracy of DTC testing (something I’ve covered here before – Accuracy of Large-Scale Genome Scanning Services):

“[The author] asked Princeton University molecular biologist Lee Silver via email how accurate the DTC genotype scanning tests are. “I ran an analysis on personal genome results obtained from 23andMe and DeCODE for me,” Silver replied. “There were about 300,000 data points that overlapped between the two tests. There was not a single data point (among 300,000) that was scored positive in one test and negative in the other.” Silver is satisfied with accuracy of such screening tests.”

SALT LAKE CITY (May 26, 2009) – GeneTree and Sorenson Molecular Genealogy Foundation (SMGF) today announced a special offer to the tens of thousands of men who donated their Y-DNA samples and pedigree information to the non-profit SMGF’s genetic genealogy database. At a deeply discounted price, participants now may access their Y-DNA profiles through GeneTree and employ the site’s extensive tools, including the SMGF database, to search and connect with genetic relatives.

SMGF has been building the database-the world’s most diverse collection of genetic genealogy information-since 2000 through donation of DNA samples and four-generation genealogy questionnaires by people interested in helping the foundation succeed in its goal of connecting the human family through genetic genealogy. Until the launch of GeneTree in Oct. 2007, SMGF did not have a way to provide participants with their genetic profiles in a meaningful form. Now for $49.50, or about one-third of the typical price, SMGF participants can receive their Y-DNA profiles through GeneTree.

“We are delighted to be able to thank those who chose to help the SMGF database project,” said Matt Cupal, president and COO of GeneTree. “We think the easy-to-use and powerful genetic genealogy tools on GeneTree will help them get the most out of their DNA profiles and help them understand their own history within the larger human genetic story.”

Y-DNA is genetic material passed down exclusively from a father to sons. SMGF participants who submitted their mitochondrial DNA, passed down from a mother to each child, received a similar offer in March 2008, and may still unlock their mitochondrial DNA profile through GeneTree for $49.95.

“We believe this is the finest way we can express our appreciation to individuals who helped build the SMGF database into the foremost genetic genealogy collection of its type in the world,” said Dr. Scott Woodward, executive director of SMGF. “Collaboration with GeneTree allows us to provide contributors with their DNA profiles in a useful and confidential manner.”

Currently, the SMGF database contains more than 100,000 DNA samples and over 7.5 million corresponding genealogical records from participants in 170 nations throughout the world.

Instructions for obtaining SMGF DNA profiles for participation on GeneTree are available at www.genetree.com/dna/unlock_smgf. Approximately two weeks after receipt by GeneTree of the participant’s request, results will be available on the GeneTree Web site.

Beyond free basic membership, GeneTree offers 33-marker Y-DNA tests for $149 and 46-marker tests for $179. Enhanced maternal lineage mitochondrial DNA tests are $179.

About GeneTree
GeneTree (www.genetree.com) is mapping the world’s DNA using genetic genealogy. GeneTree’s Web site allows easy connection to genetic cousins, collaboration on family trees, and sharing of personal profiles and photos. GeneTree also provides the option for participants to integrate into their family history research their DNA profiles, through one of the world’s most respected DNA laboratories, for a scientific window into their ancestry and to find living relatives for whom no paper records exist. GeneTree users are linked to the world’s most extensive correlated genetic genealogy database.

About Sorenson Molecular Genealogy Foundation
The Sorenson Molecular Genealogy Foundation (SMGF; www.smgf.org) is a non-profit research organization that has created the world’s largest repository of correlated genetic and genealogical information. The free, publicly available SMGF database currently contains information about more than seven million ancestors through linked DNA samples and pedigree charts from more than 170 countries, or approximately 90 percent of the nations of the world. The foundation’s purpose is to foster a greater sense of identity, connection and belonging among all people by showing how closely we are connected as members of a single human family.

In January I wrote about Benjaman Kyle, an amnesiac who was found on August 31, 2004 next to a dumpster behind a Burger King in Richmond Hill, Georgia.  In that post, “Using Genetic Genealogy to Solve the Mystery of Benjaman Kyle,” I suggested that a Y-DNA test might be helpful in elucidating Mr. Kyle’s biological surname.  Y-DNA testing has shown to be highly useful for identifying unknown surnames (see here and here), and so I contacted Mr. Kyle to suggest the possibility.

The Results Are In

Shortly thereafter, Mr. Kyle took a 67-marker test from Family Tree DNA.  The results, announced it seems by Kimberly Powell of Kimberly’s Genealogy Blog, suggest that his surname might actually be POWELL or a variant thereof.  His results are now part of the Powell Surname DNA Project as kit #140314 where he very closely matches the “Joseph Powell Group.”  See more here.  From Kimberly’s post:

A 50/60 year old amnesia victim going by the name of Benjaman Kyle recently had his Y-DNA tested in an attempt to learn something about his origins; resulting in a close 37 marker connection with several members of the POWELL Surname DNA surname project at FamilyTreeDNA. Interestingly, just like the Unclaimed Persons Web site, founded by Megan Smolenyak, which brings together genealogists with medical examiners, coroners, and investigators searching for next of kin of recently deceased individuals, amnesia victims also have groups of volunteers who help try to reunite them with family. You can read more of the discussion on Benjaman Kyle at WebSleuths.com, which is where using genealogy as a possible tool was suggested.

The Indianapolis Star ran a story last month – Man with Amnesia Still Searching for his Past – that mentioned the DNA testing but failed to mention the potential POWELL link.

Proof?

This isn’t proof that Benjaman’s last name before he suffered from amnesia was Powell.  He might have legally changed his name, or there might have been some other non-paternal event that introduced the Y-DNA into the family (infidelity, adoption, etc…) such that Benjaman possessed the [potentially] Powell Y-DNA at birth but did not have the Powell surname.  In any event, this is a new clue that might help Mr. Kyle rediscover his identity.

In February, I received a number of comments and emails which suggested that DNAPrint Genomics was not processing results and could not be reached by telephone.  DNAPrint was one of the first companies to offer ‘large-scale’ autosomal testing, although their tests were unable to compete with the testing currently offered by companies like 23andMe and deCODEme.

Indeed, the company has recently ceased operations.  From the site: “DNAPrint® Genomics, Inc. has regrettably ceased operations. We thank you for your support.”  As I wrote last February, the company was scheduled to be purchased by Nanobac Pharmaceuticals, but the deal fell through shortly thereafter.

GenomeWeb Announces DNAPrint’s Demise

From an announcement today at GenomeWeb – “DNAPrint Genomics Goes Bust”:

NEW YORK (GenomeWeb News) – Genetic testing company DNAPrint Genomics has shut down its operations, according to a notice on its website.

The Sarasota, Fla.-based firm shut down operations sometime during the past month. Its most recent filing with the US Securities and Exchange Commission was on Feb. 9, in which it announced that its President and CEO Richard Gabriel had resigned from the firm as well as its subsidiaries Ellipsis Biotherapeutics and Trace Genetics.

The cash-strapped firm, which had been trading on the Pink Sheets, had inked a deal a year ago to be acquired by Nanobac Pharmaceuticals. However, the deal fell apart after Nanobac was unable to raise additional funds before a deadline on March 31, 2008.

Attempts by GenomeWeb Daily News to reach company officials were unsuccessful.

I’ve been working on a presentation regarding the future of genetic genealogy, and one aspect of that future is the ability to trace DNA (SNPs, mutations, haplogroups, etc…) through recent history as the result of combining extensive genomic sequencing with massive family tree information.  Although the ability to do this will have many uses (both for genealogy and for personalized medicine), it will also raise a number of privacy issues, as a recent paper suggests.

A New Privacy Study

In “Inferential Genotyping of Y Chromosomes in Latter-Day Saints Founders and Comparison to Utah Samples in the HapMap Project,” author Jane Gitschier uses a combination of FamilySearch (http://www.familysearch.org) and Sorenson Molecular Genealogy Foundation (http://www.smgf.org/) to elucidate the Y-chromosome signature of two founders of the LDS Church.  Gitschier then used that information to determine whether anyone who contributed DNA to the HapMap project was related to these individuals via the Y-chromosome (none appeared to be).  However, Gitschier was able to predict the surname of many of the HapMap participants using these databases.

This research is related to two posts I wrote last October about using genetic genealogy results to determine surnames (“DNA Could Reveal Your Surname, Of Course,” and “More On Revealing Surnames Using Genetic Genealogy”).  I first mentioned this research last September when I highlighted some of the most interesting abstracts submitted for the American Society of Human Genetics’ November meeting (see here).

The Abstract:

“One concern in human genetics research is maintaining the privacy of study participants. The growth in genealogical registries may contribute to loss of privacy, given that genotypic information is accessible online to facilitate discovery of genetic relationships. Through iterative use of two such web archives, FamilySearch and Sorenson Molecular Genealogy Foundation, I was able to discern the likely haplotypes for the Y chromosomes of two men, Joseph Smith and Brigham Young, who were instrumental in the founding of the Latter-Day Saints Church. I then determined whether any of the Utahns who contributed to the HapMap project (the “CEU” set) is related to either man, on the basis of haplotype analysis of the Y chromosome. Although none of the CEU contributors appear to be a male-line relative, I discovered that predictions could be made for the surnames of the CEU participants by a similar process. For 20 of the 30 unrelated CEU samples, at least one exact match was revealed, and for 17 of these, a potential ancestor from Utah or a neighboring state could be identified. For the remaining ten samples, a match was nearly perfect, typically deviating by only one marker repeat unit. The same query performed in two other large databases revealed fewer individual matches and helped to clarify which surname predictions are more likely to be correct. Because large data sets of genotypes from both consenting research subjects and individuals pursuing genetic genealogy will be accessible online, this type of triangulation between databases may compromise the privacy of research subjects.”

23andMe and mondoBIOTECH announced at Davos (the World Economic Forum in Switzerland) today that they will work together to further the study of rare diseases.  According to the press release (below), mondoBIOTECH will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Service™.  Researchers will use the information collected to learn more about the potential causes of these rare diseases.

CNBC Video:

Linda Avey appeared on CNBC this morning to discuss the company and the partnership – see “It’s All in the Genes.”

The Press Release:

Davos, Switzerland – January 28^th 2009 – 23andMe, Inc., an industry leader in personal genetics, and Mondobiotech AG, a Swiss research company dedicated to the development of treatments for rare diseases, today announced at the World Economic Forum in Davos, Switzerland, that they are collaborating to advance research of rare diseases.

The announcement marks the return of the companies to the World Economic Forum, where they both were recognized as Technology Pioneers in 2008. 23andMe and Mondobiotech will work together to facilitate research of the genetic bases of rare and potentially fatal diseases, such as Pulmonary Arterial Hypertension, Sarcoidosis, and Pulmonary Fibrosis, the genetics of which are poorly understood. Mondobiotech will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Serviceâ„¢. Researchers then will be able to study the genetic information collected, along with any phenotypic information provided, in clinical trials, to understand potential causes of these diseases. 23andMe will coordinate genome-wide association studies for Mondobiotech affiliates using its research infrastructure and bioinformatics expertise.

The Illumina (NASDAQ: ILMN) DNA Analysis technology used by 23andMe is the world’s leading technology for genome-wide association studies and has the unique capability to include custom markers. This feature enabled 23andMe to select SNPs (single nucleotide polymorphisms), or variants that provide coverage of genes associated with drug response, information that is proving to be critical for the development of personalized medicine. In addition to having over half a million markers available for disease research, these “pharmacogenetic” indicators included in the 23andMe dataset could provide invaluable information for identifying treatment protocols.

“We are eager to take an active role in advancing research of rare genetic disorders,” said Linda Avey, co-founder of 23andMe. “By partnering with our colleagues at Mondobiotech, a company acutely focused in this area, we’ll be able to leverage the genetics and bioinformatics expertise of our science team toward better understanding of these often devastating conditions.”

“For years, we have been working on behalf of neglected and underserved disease communities to help improve the lives of people with rare and fatal diseases,” said Fabio Cavalli, Chief Executive Officer of Mondobiotech. “When we met the founders of 23andMe last year at Davos and saw what they were doing with genetics, we knew that a collaboration between the two companies could go a long way towards understanding the causes of the diseases we have been researching.”

About 23andMe

23andMe, Inc. is the leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company’s Personal Genome Service™ enables individuals to gain deeper insights into their ancestry and inherited traits. 23andMe, Inc., was founded by Linda Avey and Anne Wojcicki in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. Its Series A investors include Genentech, Inc., Google Inc. (NASDAQ: GOOG) and New Enterprise Associates.

More information is available at www.23andme.com.
About Mondobiotech

Mondobiotech is the Swiss open source biotech aiming to improve the health of patients affected by rare diseases. Mondobiotech currently has a product pipeline of more than 300 peptides as treatment options for more than 600 rare diseases. The company licenses out their products to companies, foundations and private persons who are interested in improving the status of affected patients. The company has obtained 6 Orphan Medical Product Designations in Europe and in the US and licensed 7 products to BiogenIdec (NASDAQ: BIIB), InterMune (ITMN), United Therapeutics/LungRx (UTHR). Mondobiotech was selected Technology Pioneer 2008 by the World Economic Forum.

For more details, please visit www.mondobiotech.com.

Although I can hardly hope to introduce or discuss these recent events any better than Daniel MacArthur has already given at Genetic Future, I will at least bring this new information to your attention.

Last Wednesday the New York Times printed “My Genome, My Self”, an article written by Stephen Pinker, one of the Personal Genome Project’s “First 10.”  In the article, Pinker talks about his experience with genome sequencing through the PGP.  It is especially interesting since Pinker analyzes the issue from the point of view of a psychologist.  I highly recommend reading this article if you are at all interested in personalized medicine or genetics.

Much of the article discusses the confusing results that are returned by genome/disease analysis, due to our current lack of understanding in this enormous field:

“It became all the more confusing when I browsed for genes beyond those on the summary page. Both the P.G.P. and the genome browser turned up studies that linked various of my genes to an elevated risk of prostate cancer, deflating my initial relief at the lowered risk. Assessing risks from genomic data is not like using a pregnancy-test kit with its bright blue line. It’s more like writing a term paper on a topic with a huge and chaotic research literature. You are whipsawed by contradictory studies with different sample sizes, ages, sexes, ethnicities, selection criteria and levels of statistical significance. Geneticists working for 23andMe sift through the journals and make their best judgments of which associations are solid. But these judgments are necessarily subjective, and they can quickly become obsolete now that cheap genotyping techniques have opened the floodgates to new studies.”

Pinker and Genetic Genealogy

Pinker, who has had mtDNA and Y-DNA ancestry testing, discusses these results as well:

“It’s thrilling to find yourself so tangibly connected to two millenniums of history. And even this secular, ecumenical Jew experienced a primitive tribal stirring in learning of a deep genealogy that coincides with the handing down of traditions I grew up with. But my blue eyes remind me not to get carried away with delusions about a Semitic essence. Mitochondrial DNA, and the Y chromosome, do not literally tell you about “your ancestry” but only half of your ancestry a generation ago, a quarter two generations ago and so on, shrinking exponentially the further back you go. In fact, since the further back you go the more ancestors you theoretically have (eight great-grandparents, sixteen great-great-grandparents and so on), at some point there aren’t enough ancestors to go around, everyone’s ancestors overlap with everyone else’s, and the very concept of personal ancestry becomes meaningless. I found it just as thrilling to zoom outward in the diagrams of my genetic lineage and see my place in a family tree that embraces all of humanity.”

Counsyl – A New Player in the Field

In the article, Pinker references a new entrant in the field of personalized medicine, Counsyl:

“The genes analyzed by a new company called Counsyl are more actionable, as they say in the trade. Their “universal carrier screen” is meant to tell prospective parents whether they carry genes that put their potential children at risk for more than a hundred serious diseases like cystic fibrosis and alpha thalassemia.”

According to their website, Counsyl plans to offer a saliva-based test for more than 100 serious genetic diseases.  The test will be offered directly to consumers through the website, as well as through medical centers in the U.S.  There is no launch date set.

In addition to the articles at Genetic Future, you can read more reactions to this piece at:

• Gene Expression – “Personal genomics, Pinker, 23andMe, Counsyl, etc.”
• Gene Sherpa – “Another Stephen (this time its Pinker) Comments on Genomics!”
• the Spittoon – “Steven Pinker on Personal Genomics”
• john hawk’s weblog – “Steve Pinker’s Hot Hot Legs profiled in NY Times Magazine”
• genomeboy.com – “Pinker on Pinker”
• DNA and You – “Steven Pinker of the PGP in the NY Times Magazine”
• The Personal Genome – “Steven Pinker Reflects on His Genome”
• Big Think Blog – “The Sly Genius of Steven Pinker” – includes a video with Pinker