Remember, you heard it here first! The Houston Chronicle appears to have advance news that two companies, Family Tree DNA and Seqwright, are planning to launch products that will analyze DNA for genes associated with disease, similar to services offered by 23andMe and deCODEme. The news is casually mentioned in a news story published yesterday in that newspaper, and on one of the paper’s blogs.
In the first article, “Public Can Get Genes Tested“, there is a quote from Bennett Greenspan, president and chief executive of Family Tree DNA:
“[FTDNA is] betting that public demand will soar for health testing as well, despite the skepticism of some physicians. Greenspan said Family Tree will begin testing for specific disease genes in a month or two. ‘We’ve been peppered with requests from customers for this kind of service during the last 18 months,’ he said.”
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.
A report published in the New England Journal of Medicine entitled “Letting the Genome Out of the Bottle – Will We Get Our Wish?” is getting a lot of coverage elsewhere, but I thought I’d add my two cents. The report’s authors are largely concerned with quality control, clinical validity (the actual predictive value of genetic tests), and utility (the balance of family history and genetic testing) of genome scans offered by companies such as 23andMe, deCODEme, and Navigenics. They also suggest that people wait for the science to catch up before purchasing genome scans. There is an NEJM audio interview with Muin Khoury, one of the authors of the study about the subject. Note that this particular report is about medical implications of genetic testing, not about genetic genealogy (two very different topics that were very confusingly jumbled in the recent article “A High-Tech Family Tree” from U.S. News & World Report).
If you stop by the Journal of Genetic Genealogy‘s front page and look through the list of Associate Editors, you might see a new name there! If you’re not familiar with the JoGG, there’s a brief write-up here. The JoGG is a free, open-access journal that presents peer-reviewed articles about genetic genealogy to the public. The first issue of the JoGG was released in the Spring of 2005.
I’m honored to be a part of this endeavor, and to join this wonderful group of individuals. I believe that this represents a great opportunity to contribute to the community that I enjoy and respect.
Genizon BioSciences, a private firm in Quebec with about 135 employees, has been awarded $31 million from the Dutch venture capital firm Biotechnology Turnaround Fund to uncover associations between genes and diseases such as obesity, diabetes, and Alzheimer’s.
There are a number of companies concentrating on the correlation between genetics and disease, but the reason that Genizon BioSciences stood out to me is the source of the DNA that the company studies. Genizon uses DNA from descendants of the Quebec Founder Population. This population began with roughly 2,600 individuals who settled Quebec between 1608 and 1760 (although more than 15,000 French had immigrated to Quebec in this period, the vast majority continued to travel westward across Canada) and is estimated to be over 6 million people today. Genizon uses this unique population for a number of beneficial reasons, including:
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).
I started The Genetic Genealogist nearly a year ago, in February of 2007. To celebrate the approaching one-year anniversary of the blog, I am announcing a contest to give away a FREE genetic genealogy test from one of my sponsors, DNA Heritage.
Why offer a free genetic genealogy test? I know that there are many genealogists out there who are interested in genetic genealogy, but are reticent to spend the money for a test or think they know too little about genetic genealogy to buy a test. Hopefully, readers of The Genetic Genealogist know a lot more about the technology than they did before they were readers, and now one of you will win a free test! The winner may choose from the following tests offered by the company:
The Y-chromosome STR (23 marker) Test valued at over $135
The mtDNA Test (HVR-I, HVR-II, and HVR-III for a total of 1145 bases) valued at $219 (sample report).
The contest rules are below, but I wanted to point out that DNA Heritage has an FAQ section, as well as a Tutorial section and a Glossary. I would highly recommend that anyone who is not familiar with DNA testing or genetic genealogy read these sections carefully and completely to understand all the benefits and limitations of genetic genealogy. It is important that anyone who is interested in any form of genetic testing understand all the implications of that testing. Note also that genetic genealogy does NOT instantly reveal the names and dates of ancestors – this can only be accomplished by comparing your results to others (using free public DNA databases) in conjunction with traditional genealogical techniques!
Scientists from the University of Utah have traced a mutation in the adenomatous polyposis coli (APC) gene to a Mr. and Mrs. George Fry, who arrived in the New World aboard the William & Mary around 1630.
The mutation, c.426_427delAT, is believed to increase the carrier’s chances of developing colon cancer from 2 in 3 by age 80, a significant increase from the normal of 1 in 24. The study is available here for FREE – thank you open access – and is entitled “American Founder Mutation for Attenuated Familial Adenomatous Polyposis.”
Scientists traced two branches (from two of the Fry’s four children) of the family back to the Fry family, one in Upstate New York and one in Utah. The family in Utah, with more than 5,000 people, has been the focus of scientific study for over 14 years because of their unfortunately high risk of colon cancer. In fact, members of the Utah branch constitute 0.15% of all colon cancer in the state of Utah!