1:25PM EST: Senator Olympia Snowe is currently on the floor of the Senate speaking about GINA (see it live on C-SPAN 2). And yes, I realize that live-blogging C-SPAN coverage is dangerously boring, but I can’t help myself!
The Senate today passed the Genetic Information Nondiscrimination Act (GINA), approving by unanimous consent of 95-0 an amended version of H.R. 493, which passed the House April 25, 2007 by a vote of 420-3. The House is expected to take up the measure again quickly before sending it to President Bush to sign the measure into law.
“After a very long wait, Americans can now be confident that their genetic information cannot be used by health insurers or employers in harmful or hurtful ways,” says Kathy Hudson, director of the Genetics and Public Policy Center, established at Johns Hopkins University by The Pew Charitable Trusts. “Our challenge now is to make sure that doctors and patients are aware of these new protections so that fear of discrimination never again stands in the way of a decision to take a genetic test that could save a life.”
The International Society of Genetic Genealogy (ISOGG) has just launched a new newsletter. The first edition, March 2008, is available here. This edition discusses GINA, a DNA Success Story by Shoshone, a segment called “The Armchair Geneticist: Where Hobby Produces Science”, What’s New in ISOGG, and a Featured DNA Project.
The newsletter is well-written and has some great graphics, so be sure to subscribe to this FREE newsletter (see the bottom of the newsletter for subscription information).
I often get emails from people who are new to genetic genealogy asking questions about their newly-received DNA testing results. They are unsure about about what the results mean, how to find more information, or what to do next. I also see people ask these questions in all of the DNA forums and mailing lists that I subscribe to. Although I do my best to help the people that email me, I often wish there was more I could do.
In an attempt to assist people with the interpretation of their genetic genealogy testing results, I’ve written an eBook that takes the reader step-by-step through an analysis of their Y-DNA or mtDNA results, including estimating a haplogroup and sub-clade from testing results, finding resources to learn more about particular haplogroups, and finding haplogroup and haplotype matches, among many other topics. Here is the Table of Contents from the 28-page eBook:
With the popular African American Lives series on PBS and numerous news stories and magazine columns, Black History Month often results in increased attention to the genealogy and genetic history of African Americans. I saw a similar increased interest in genetic genealogy last February as well.
“One of the more fascinating developments with the new genealogy is the extent to which DNA testing is revealing the multi-racial ancestry of Americans. While thereâ€™s some controversy about the claims of DNA testing firms as to how accurately they can match individuals to ancestors from specific communities and ethnic groups, thereâ€™s a consensus that proper testing can roughly specify a personâ€™s relative mix of his or her ancestorsâ€™ geographic origins.”
As I was reading through the GENEALOGY-DNA list from Rootsweb this morning, I came across a great question about the frequency of mutation of mitochondrial DNA (mtDNA).
The listmember asks “I am wondering if anyone would know the odds of having a mutation between my brother and me in our mtDNA. Marker 16163 is G for one of us and A for the other…” This is a great question, and one that I’ve been asked as well.
In response, Ann Turner writes “The mutation rate hasn’t been studied in the detail I’d like to see. The largest study for the hypervariable regions was based on deep-rooting pedigrees from Iceland. They found 3 mutations out of 705 transmission events.”
The study, available here (pdf, HT: Ann Turner) was conducted through deCODE Genetics and Oxford University. They used 26 Icelandic ancestral trees to identify maternally-related individuals, and sequenced 272 mtDNA control regions representing a total of 705 transmission events. The researchers found a total of three mutations, resulting in a mutation rate of 0.0043 per generation, or 0.32/site/1 million years. A previous study (Parsons et al., 15 Nature Genetics 363 1997) found a total of 10 mutations in 327 transmission events for a frequency of 2.5/site/1 million years, and yet another study found 2 mutations in 81 transmissions for a rate of 0.75/site/1 million years (Howell et al., 59 Am J Hum Genet 501). The huge differences in these numbers suggests that much more research needs to be done, probably with a much larger dataset. If I had unlimited funds, I would also be interested to see if there are different mutation rates among haplogroups, as well as a number of other factors.
Although the world of genetic genealogy has slowed from the furor of November and December 2007, there is still plenty of discussion and consideration going on around the blogosphere.
First, Ann Turner , co-author of “Trace Your Roots With DNA” and moderator founder of the terrific Genealogy-DNA list has experimented with both deCODEme and 23andMe. Although she is still analyzing the results, she has a short write-up of deCODEme’s graphic presentations for comparing genomes (Word document here). The deCODEme comparison tool allows users to compare the degree of similarity between genomes, as long as the user has permission to compare. For those without a permissible genome to compare to, deCODEme provides reference samples from about 50 different populations. Ann points out that “it would be really interesting to hear if anybody is testing a number of close or distant relatives,” as their genome comparisons would be especially relevant.Â Update: A revised version of Ann’s document with comparisons to more individuals is available here (zip file).
Genealogists spend many of their days (and much of their money!) tracking the history of their ancestors. They hunt through ancient records to elucidate even the smallest clue as to some facet of their ancestors’ lives. Since the majority of genetic genealogists started their journey as traditional genealogists, it is only natural that they enjoy record-keeping and tracking as well.
The DNA Genealogy Timeline is a free public resource maintained by Georgia K. Bopp and hosted by rootsweb.com. The timeline attempts to track the significant developments associated with genetic genealogy. It begins with “Before 1980″ and was updated most recently as of October 2007.
What immediately stands out is that genetic genealogy has been around much longer than people realize, especially given the recent media attention. I began my exploration of genetic genealogy in 2003, but by 2000 there were already as many as 4 surname projects begun by hobbyists! As of September 2007, one company (Family Tree DNA) had over 4,200 surname projects that contained more than 66,000 surnames. There are even more surname projects hosted by other companies, including Heritage DNA.
If you’re thinking about jumping into the field of genetic testing (whether for genetic genealogy or any other form of genetic test), you should be sure to do some research first. The results of any genetic test are incredibly personal, and can potentially have a huge impact. As a result, the decision to undergo testing should only be made after doing some vital research.
Luckily, a fellow DNA Network blogger has written a post that will help you do this important pre-testing research. Hsien at Eye on DNA has written “How to Prepare Yourself for a Genetic Test.” Hsien provides the following advice:
“Although you canâ€™t change your DNA, it is possible to prep yourself for a DNA test just as itâ€™s possible to prep yourself for a driving test. It is critically important that anyone undergoing DNA testing learn as much as they can about the results they can expect to receive, the interpretation of these results, and the impact results may have on their life choices.”
“[The quest for identity] also leads unwary seekers of the past right into the hands of scam artists who claim they can trace anyone’s DNA back to its source.”
The sentence is extremely misleading:
First – a scam artist is by definition a person who engages in a “fraudulent business scheme.” Although genetic genealogy can be controversial, I’ve never heard a single customer accuse a company of running a scam. To the best of my knowledge, these testing companies are using the best science available to test DNA and compare results to their databases. Are physicians running a scam if they use open-heart surgery to fix a heart, rather than a simple pill that will be invented in 5 years? All technology is based on the best developed science right now. A company might have a limited database or only test a limited number of markers, but this does not qualify them as running a “scam.”