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!


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.’


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


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!


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!


The Full mtDNA Genome of Ötzi is Sequenced (Twice?)

Großglockner seen from the southwest. The Groß... Image via Wikipedia Ötzi the Iceman is the popular name for a 5,000 year-old mummy discovered frozen in the ice of the Alps in 1991.  Studies of the Iceman has revealed an immense amount of information about him, including details of his life, his death, and his culture.  Although Ötzi’s mtDNA has previously been studied, researchers had only examined short segments which suggested that his mtDNA belonged to Haplogroup K.  A new paper in Current Biology (subscription only darn it) details Ötzi’s full mtDNA genome for the first time:

"Using a mixed sequencing procedure based on PCR amplification and 454 sequencing of pooled amplification products, we have retrieved the first complete mitochondrial-genome sequence of a prehistoric European. We have then compared it with 115 related extant lineages from mitochondrial haplogroup K. We found that the Iceman belonged to a branch of mitochondrial haplogroup K1 that has not yet been identified in modern European populations."

The full sequence (which has been deposited in GenBank with accession number EU810403) was then compared to 115 published full mtDNA Haplogroup K sequences.  The comparison suggests that Ötzi belonged to a previously uncharacterized … Click to read more!


The Retail DNA Test Named the #1 Invention of 2008 by TIME Magazine

Image representing 23andMe as depicted in Crun...
Old 23andMe logo via CrunchBase

The latest issue of TIME Magazine lists the top 50 inventions of 2008, and the invention of the year is the Retail DNA Test.  The article is mostly about the product currently offered by 23andMe.  From the article:

“We are at the beginning of a personal-genomics revolution that will transform not only how we take care of ourselves but also what we mean by personal information. In the past, only élite researchers had access to their genetic fingerprints, but now personal genotyping is available to anyone who orders the service online and mails in a spit sample. Not everything about how this information will be used is clear yet — 23andMe has stirred up debate about issues ranging from how meaningful the results are to how to prevent genetic discrimination — but the curtain has been pulled back, and it can never be closed again. And so for pioneering retail genomics, 23andMe’s DNA-testing service is Time’s 2008 Invention of the Year.”

As the past year has shown, many people are opposed to this type of product for various reason, including that the test doesn’t involve genetic counseling, it isn’t ordered or interpreted by your personal doctor, and issues of genetic discrimination.  However, the article doesn’t shy away from these issues and provides a brief but interesting look into both sides.

This award highlights the fact that we are in the midst of a vast genetic revolution.  We are the first generation to be able to peer into the DNA inherited … Click to read more!


Another Consideration For Genetic Sequencing and Privacy

James Watson (February, 2003)
(Jim Watson via Wikipedia)

As if there wasn’t enough to worry about during the genetic revolution, researchers have found a way to characterize redacted genetic sequences from whole-genome or large-scale sequencing.

Here’s how it works.  Let’s say that Mr. X has had his genome sequenced, but doesn’t want to know the results of some genes known to influence the development or progression of Alzheimer’s Disease.  So when he receives his genomic sequencing, these genes have been ‘redacted’, or removed from the data.  This is exactly what James Watson decided to do when he received his data.

Characterizing Redacted Genes

However, researchers have characterized one of Watson’s redacted genes by examining the sequences surrounding the gene in question.  … Click to read more!


Genetic Genealogy Tidbits

Image created by Abizar Lakdawalla - fair use.
Image via Wikipedia

This week I was quoted in the November issue of Wired Magazine about the use of autosomal DNA for genetic genealogy testing.

A Controversy

At “Adoptees use DNA to find surname,” Larry Moran at Sandwalk comments on my recent articles (here, here, and here) regarding the use of genetic genealogy (or genetic sequencing in general) test results to find unknown biological parents.  Although Dr. Moran accuses me of being a “cheerleader” who is blind to any ethical concerns associated with using DNA to find biological parents, he obviously didn’t do his research!  Less than a month ago I wrote this on the blog:

“For most people, being able to identify your own ancestors based on your own DNA poses few if any ethical dilemmas. However, what if your neighbor or your stalker or even law enforcement wants to use a sample of your DNA to identify your ancestors? Additionally, what if your living ancestor doesn’t wish to be identified? Does the ancestor have that right, or is possible identification through genetic genealogy just one of the consequences of parenting a child anonymously or simply having sex with another person?”

In response to a write-up at Genome Technology, Discovering Biology in a Digital World wrote “Hey sperm donors, could DNA testing be hazardous to your wealth?“.

Blending Genetic Genealogy and Personal Genomics

Often, articles that discuss both genetic genealogy and whole-genome scans … Click to read more!


More On Revealing Surnames Using Genetic Genealogy

Image by gravitywave via Flickr

Last week I wrote about using genetic genealogy databases to identify someone’s surname (see “DNA Could Reveal Your Surname, Of Course.”)  The article discussed results from researcher Dr. Turi King which suggested that there is a 24% to 50% chance that two men who share the same surname share a common ancestor through that name, with chances increasing if the surname is rare.

Somehow I completely missed “Adoptees use DNA to find surname“, an article at BBC News this June.  Men who were adopted as children are using genetic genealogy databases in an attempt to identify their biological surname.  This is Dr. King’s research in motion.  Family Tree DNA, for example, has a project for Adopted people that is over 2 years old, and has a success rate of more than 30%, thanks in large part to their database … Click to read more!


DNA Could Reveal Your Surname, Of Course

allelic length variation among 6 individuals
Image via Wikipedia

New research from Mark Jobling’s lab at the University of Leicester suggests that Y-DNA can be used to determine a male’s surname.

I know, I know, this is obvious to anyone who is familiar with genetic genealogy.  Just check out the many instances of this type of determination at ISOGG’s Success Stories website, for example.  However, as you’ll see below, this research has resulted in some new and interesting information.


Dr. Turi King, who conducted the research, recruited over 2,500 men with roughly 500 different surnames to submit Y-DNA samples.  The sample set included a group not sharing surnames as well as sets of men (between 2 and 180) who shared a surname (including recognized variants).  She then typed 9 SNPs and 17 STRs.  There’s much … Click to read more!