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Family Tree DNA Facts & Genes Newsletter

present for myself
Image by Valerie Reneé via Flickr

Family Tree DNA has a new issue of Facts & Genes available on their website.  If you didn’t receive this newsletter but would like to receive it in the future, you can register here.

I especially like the “Case Study in Genetic Genealogy”, which is reprinted in full below.  I, like others, sometimes jump too quickly to the conclusion that there has been a non-paternal event in a line.

Case Study in Genetic Genealogy

When I ["I" being a hypothetic someone who has tested through a genetic genealogy company] first tested, I had no matches with my surname, and a match with another surname. I was told that there was an event in the past, breaking the link of the Y chromosome and the surname – an … Click to read more!

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Family Tree DNA and MyHeritage Partner to Combine DNA With Family Trees

image
As the Guardian reported today in “Genealogy website MyHeritage offers low-cost DNA tests“, Family Tree DNA and MyHeritage have formed a partnership to combine DNA testing with online family trees.  From the press release:

“With close to 220,000 records, FamilyTreeDNA is the largest database of genealogic DNA information in the world. This provides the perfect complement to MyHeritage’s current research tools, giving our members another way to learn about where they come from,” said Gilad Japhet, founder and CEO of MyHeritage. “We help people around the world discover, connect and communicate with their extended family network and easily research their family history. Now, by working with FamilyTreeDNA, we can offer a solution when the paper trail runs out.”

Special Discount at Family Tree DNA:
imageAs part of the partnership, Family Tree DNA is offering special pricing to MyHeritage members.  However, readers of TGG can click here to obtain the discount without being a member of MyHeritage.  The following prices are with the discount:

  • Y-DNA25 – a Y-chromosome test for males (US$129)
  • mtDNA – a mitochondrial DNA test for males and females (US$129)
  • Y-DNA25 + mtDNA – a combined Y-chromosome and mitochondrial DNA test for males (US$219)

Interesting Tidbits from the … Click to read more!

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Security at Navigenics and 23andMe

Security of genetic information is an enormous concern for individuals, and thus an enormous concern facing commercial genetic enterprises.  I was recently having a conversation with someone about the security of genetic and personal information at companies such as 23andMe and Navigenics, and I pointed out that the very livelihood of these organizations depends on their ability to secure information.  A single security breach could potentially drive away future customers.

On that topic, Ryan Calo, a residential fellow at Stanford Law School’s Center for Internet & Society writes about a panel discussion held at the law school (pdf poster here):

“With a credit card and a saliva sample, consumers can now unlock the secrets carried in their DNA. Consumer genomics offers direct access to one’s genetic code, plus interpretations of health risks, family lineage, opportunities for social networking, and more. But how should consumer genomics be regulated? Join us for a panel discussion with leaders at the forefront of consumer genomics (23andme and Navigenics), media commentators (Alexis Madrigal from Wired), and policy makers.”

The moderator of the discussion was Hank Greely, a professor at Stanford whose work I highly respect and enjoy.

Calo writes in his blog that Navigenics has a … Click to read more!

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The ASHG Ancestry Testing Task Force

Charmaine Royal, Ph.D., discusses “The pitfalls of tracing your ancestry” at NatureNews.  Dr. Royal, an associate professor at the Duke Institute for Genome Sciences and Policy, co-chairs the ASHG Ancestry Testing Task Force.

Brendan Maher of Nature’s In the Field blog has more at “ASHG 2008: A stance, more or less, on genetic ancestry testing.”  Not much more covered here that was already written at The Spittoon – see “ASHG Releases Ancestry Testing Statement Emphasizing Interpretation.”

If you’re interested in seeing the Task Force’s webcast, it’s available … Click to read more!

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The ASHG Ancestry Testing Statement and Recommendations

Edited (June 6, 2011): FINAL version of the paper available here.

Today at 1:15PM, the American Society of Human Genetics released the “ASHG Ancestry Testing Statement and Recommendations (pdf)” during a press briefing session entitled “ASHG Ancestry Testing Statement and Recommendations: Guidelines for Understanding the Issues and Implications Involved.  The briefing session, held from 1:15PM to 2:15PM, is part of the 58th annual ASHG meeting in Philadelphia.  The paper was drafted by the recently-appointed ASHG Ancestry Testing Task Force Committee.

Let me start my analysis by clearly pointing out my personal positions:

  • After years of experience in this field, I am a proponent of genetic genealogy testing, a scientific endeavor that has been utilized by as many as 500,000 to 800,000 customers.
  • I believe that education, not more government regulation, is the most efficient and appropriate answer to the issues raised by the authors of the paper.
  • I believe that autosomal genetic genealogy testing is in its infancy and should only be used with the understanding that the results are only extremely rough estimates that are subject to change as the field develops.

General Concerns:

With those personal positions in mind, and after reviewing the paper, I have a number of general concerns with the paper’s conclusions:

  • There are statements in the paper about psychological reactions to testing results, including the conclusion that “[t]he occurrence of or potential for emotional distress in people and groups following receipt of conflicting information about their ancestry has been well documented.”  Unfortunately, the statements are based on anecdotal stories or isolated examples rather than any systematic or scientific investigation of the reactions of individuals to the results of genetic genealogy testing.  I am unaware of any systematic objective study that looks at the reactions of individual to genetic genealogy testing results (outside of the paternity test or health testing arenas).  Indeed, a prior policy paper from the ASHG cites only a BBC documentary that examined the ancestry of three individuals of African descent and a newspaper article to support their conclusion that “[t]est-takers may…suffer emotional distress if test results are unexpected or undesired.”  I would suggest that the Task Force, rather than assume that this “emotional distress” response to genetic genealogy test results has been well documented, conduct an objective study specifically tailored to analyze genetic genealogy testing. The difference between the results of genetic genealogy testing and the results of health or medical testing is so vast that drawing comparisons between the two is extremely problematic and potentially inaccurate.
  • The paper muddles the distinction between Y-DNA/mtDNA testing and autosomal testing, even though the differences are huge.  The results of Y-DNA and mtDNA tests are STR numbers, SNP designations, or differences from the CRS which are then used to estimate a haplogroup or compare with another’s results.  Given the extensive data regarding haplogroup designation, the estimates are highly accurate.  Additionally, a haplogroup designation implies only a very broad geographical origin many thousands of years ago; it is not an estimation of genetic ancestry, as the authors of the policy paper imply.  Haplogroup designations have existed for more than 20 years and continue to be used by population geneticists and anthropologists.  The results of autosomal testing, however, are estimations of genetic ancestry.  These autosomal tests look at anywhere from 13 to 500,000 locations – out of billions – on the human genome and return percentages of ancestry based on those markers.  Autosomal testing can be confusing to test-takers because customer often assumes that the percentages are final and represent an accurate picture of their entire genome.
  • The authors mix the issues associated with the everyday genetic genealogy test-taker with the issues faced by very specific groups of test-takers.  For example, Native American groups are concerned about the effects that genetic genealogy will have on group identity and membership.  These same concerns have also been raised by lineage societies such as the SAR and the Mayflower SocietyAny regulations that a group believes it needs should be at the level of the group, not at the level of the testing! Groups that have these concerns should themselves decide whether and how to use genetic genealogy results for membership and group identity (such as the DAR and Mayflower Society are doing); regulating genetic genealogy at the testing level is not the most efficient or appropriate way for these groups resolve the ethical and social concerns.
  • There is mixing of the controversial phrase “direct-to-consumer” with genetic genealogy.  Of course it’s direct-to-consumer, who else would the results go to?  Surely the authors of the paper aren’t suggesting that genetic genealogy tests should be ordered and reviewed by a doctor or genetic counselor.  That would be a ridiculous restriction.
  • Although I am unaware of the composition of the ASHG Task Force, I hope that it is made up of a diverse group. Additionally, I hope that the Task Force is actively conversing with people outside the committee, including commercial testing entities, researchers, and customers of genetic genealogy in order to obtain a well-rounded view of the field.

Specific Concerns:

Now, onto a few specific criticisms of the paper:

Limited Scope:

“Many people pursue genetic ancestry testing because they wish to find out more information about either the local populations or broad geographical regions in which their ancestors lived. However, the power of commercial genetic tests to answer such questions is limited, and the precision of the answer is often limited by the imprecision of the question. The limitations arise from the fact that every person has hundreds of ancestors going back even a few centuries and thousands of ancestors in just a millennium. There is thus enormous non-deterministic variation to the portion of the genome retained in a descendant from a given ancestor, with a rough expectation that it halves every generation. Consequently, genetic tests can access only a fraction of these ancestral contributions. The genomic segments contributed by a particular ancestor are far from all being uniquely identifiable, so even if one’s genome has those specific genome contributions, identification of particular ancestry is always uncertain and statistical. It is also unclear how well-inferred ancestry serves to predict the tested individual’s genotypes at untested loci.”

This paragraph largely deals with autosomal … Click to read more!

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Genetic Genealogy at the ASHG Meeting in Philadelphia

The 58th annual meeting of the American Society of Human Genetics is currently being held in Philadelphia.  Today at 10:00AM there will be a session specifically about genetic genealogy entitled “The Social, Ethical, and Biomedical Implications of Ancestry Testing: Exploring New Terrain.”  From the abstract:

“What is genetic ancestry and how does it relate to race and ethnicity? The development of increasingly cost effective genomic sequencing technologies and public interest in genetic ancestry has led to a dramatic flourishing of direct-to-consumer products and new approaches to biomedical research. In this session, panelists define the contours of this emerging landscape and explore the commercial, biomedical, social and ethical implications of this burgeoning category of genomic application. Panelists consider the following questions: What genetic ancestry information is available to consumers? How is genetic ancestry used in biomedical research? What implications do genetic approaches to ancestry have on social identity? What ethical and policy issues must be addressed in this changing landscape? Panelists provide perspectives from industry, medicine, cultural studies, and bioethics.”

The moderator of this session is Sandra Soo-Jin Lee of Stanford University.  The panelists include Joanna Mountain who will talk about ‘New dimensions for direct-to-consumer genetic ancestry testing’; Kimberly Tallbear who will talk about ‘The genetic construction of indigeneity’; and Esteban González Burchard who will talk about ‘The importance of ancestry testing and genetics in biomedical research’.  Additionally, the moderator will discuss ‘Racing forward: The ethics of ancestry testing.’

Comments:

I don’t like the mixing of the controversial phrase “direct-to-consumer” with genetic … Click to read more!

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A Lecture by Spencer Wells

image Last week I had the opportunity to attend a lecture by Spencer Wells, director of the Genographic Project from National Geographic and IBM.

The talk was a Syracuse Symposium event, and the first big event ever to be held in Syracuse University’s new $110 million Life Sciences Center.  I thought it was fitting that the first event to celebrate the future of the new life sciences building was a lecture that examined the collective genetic journey of mankind.

Dr. Wells began by giving the audience a very brief introduction about DNA and genetic genealogy.  He included a great quote that “The question of origin is actually a question about genealogy.”  For those that are not familiar with the Genographic Project, it was launched in 2005 and includes three primary missions:

  1. Global DNA sampling from indigenous and traditional cultures which retain a geographic link with their current location;
  2. Public participation; and
  3. The legacy fund, which is funded by the public participation aspect of the project and aims to “empower indigenous and traditional peoples by supporting locally-led efforts.”

Dr. Wells is a great speaker and the hour-long lecture … Click to read more!

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Nature Focuses on Personal Genomics

Nature has a brand new web focus on personal genomics (as of November 5th, 2008).  And best of all, most of the articles are entirely free to access, download, and read!  From the site:

“As the number of human beings with their genomes fully sequenced ticks higher and direct-to-consumer gene profiling companies push the limits of what medical genetics can do, the once fantastical notion that any given human can walk into a doctor’s office with his or her genome on a hard drive looks more and more like a reality. Still the question remains to be answered: how do we use this wealth information? In this Nature web focus we proudly present the challenges this approaching reality poses for technology, the legal and ethical confines of research, and the ability of genomics to translate into clinical utility.”

Here are just a few of the interesting news & opinion articles:

And unlike other bloggers who will undoubtedly mention these articles, I recommend that you read or peruse all the articles, not just the ones I happen to agree with!

In addition to the articles, Nature has a podcast (mp3) of special features on personal human genomes.  And lastly, follow along as Nature blogs from the 58th Annual Meeting of the American Society of Human Genetics in Philadelphia from November 11-15.  It looks like this is going to be quite a meeting.

HT: tweet from attilacsordas – are you … Click to read more!