Author: Blaine Bettinger

Family Tree DNA Facts & Genes Newsletter

Blaine Bettinger 1 Comment
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 illegitimacy. ... Click to read more!

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

Blaine Bettinger 2 Comments
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.” ... Click to read more!

Security at Navigenics and 23andMe

Blaine Bettinger 9 Comments

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.” ... Click to read more!

The ASHG Ancestry Testing Task Force

Blaine Bettinger 2 Comments

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 here.

The ASHG Ancestry Testing Statement and Recommendations

Blaine Bettinger 11 Comments

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: ... Click to read more!

Genetic Genealogy at the ASHG Meeting in Philadelphia

Blaine Bettinger 1 Comment

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.” ... Click to read more!

A Lecture by Spencer Wells

Blaine Bettinger 6 Comments

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: ... Click to read more!

Nature Focuses on Personal Genomics

Blaine Bettinger 6 Comments

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.” ... Click to read more!

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

Blaine Bettinger 3 Comments
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." ... Click to read more!

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

Blaine Bettinger 8 Comments
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.” ... Click to read more!