by Dr. Hsien-Hsien Lei
Posted January 25, 2008 in DNA Testing
While David Hamilton of VentureBeat Life Sciences has been scrutinizing deCODEme’s sample reports for “demo user,” Dr. Ann Turner has been on the inside. Not only is she a customer of both deCODEme and 23andMe, Dr. Turner is the co-author (with Megan Smolenyak) of Trace Your Roots with DNA: Using Genetic Tests to Explore Your Family Tree. Trained as physician at Stanford University, she now develops software for neuropsychological testing as well as those for use in genetic genealogy. She is also the founder of the very active GENEALOGY-DNA mailing list at RootsWeb and is on the editorial board of the Journal of Genetic Genealogy.
Today at Eye on DNA, Dr. Turner shares her thoughts on deCODEme, 23andMe, and whole genome testing.
David Hamilton at VentureBeat finds the deCODEme demo to be “underwhelming.” Consumer access to whole genome testing is totally unprecedented, and we have no foundation for knowing what to expect, but I’m considerably more intrigued by the potential myself.
First of all, I expect deCODEme and 23andMe felt under intense competitive pressure to get a product out the door, since rumors had been circulating widely for months. I don’t regard either website as being mature, but they are each expandable as science learns more from whole genome association studies. The raw data will be constant, and I find myself scanning news releases about research studies to see if they mention any rs (Reference SNP) numbers. For instance, a recent article by Gina Kolata in the New York Times mentioned a commercial prostate cancer test to be marketed for $300, which will include five SNPs that seem to elevate the risk several-fold if many of them are present. The deCODEme and 23andMe download of raw data includes four of those SNPs. I expect both websites will be incorporating findings like these into their interpretive reports, too.
I agree that the website does not make for easy pickings — it takes some thought to grasp the principles behind the reports and graphics. The whole notion of relative risk is not something many people have even thought about. But, as Kevin Kelly said in a WIRED article reviewing the Genographic Project and my book Trace Your Roots with DNA, “a basic level of genetic literacy will be essential… ” and learning about our own DNA is a great motivator. When David Hamilton complained that clicking on the Relationship Check for “nephew” revealed a “rat’s nest of possible family ties” that’s exactly what he could have expected. All those relationships share about 25% of their DNA on the average, as the chart in the WIRED article illustrates.
Since I’m interested in genetic genealogy, I am more attuned to the ancestry components of the deCODEme results. The admixture results are interesting to anyone who suspects they may have ancestors from different geographical areas. The detailed chromosome graphs also show the potential for tracing segments of DNA shared with even more distant relatives. For instace, it was recently found that a block carrying a colon cancer gene could be traced back to a couple who arrived in the US in the early 1600’s. This sort of thing might very well show up in the “Compare Me” feature.
Early adopters do take some risks — I’m sure that prices will drop and features will increase as time goes on. But I’m in the game, as I want to start on the learning curve right away.
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