Using a fake name so he would not get preferential treatment, Collins sent in DNA samples to three testing services - 23andme, Navigenics and Decodeme - to assess their accuracy in determining his genetic pre-dispositions to diseases, according to the MIT Technology Review. Collins, rumored to be in line to head the National Institutes of Health, just reported his on experiment and findings at Consumer Genetics Conference in Boston.
The results of testing for his disease risk were inconclusive. One found him at low risk, another average and the other high (some of the sites admit the evidence at best only suggests pre-dispositions). Indeed, each used a different number of genetic variations known as Single Nucleotide Polymorphisms or SNPs (pronounced snips) to assess his risk of disease. And he was provided little information in what diseases could to be passed on to his future generations. On the plus side, the genotype generated for Collins was virtually identical across all three sets of results, suggesting a high degree of accuracy in analyzing the samples he gave.
Perusing the three sites offers a wonderful lessons in genomics and all the intimidating lingo that comes with it. My favorite site is 23andme.com because it's well-organized, uncluttered, informative and uses videos to explain genes, SNPs and phenotypes in its terrific Genetics 101 section. And at $399 for DNA testing, it is also one of the cheapest. Depending how much you want including hand-holding from a counselor, you can spend up to $2,500. Decodeme has an a la carte menu whose lowest price is $195 for a "Cardio" scan.
23andme also has a blog called The Spittoon if you want delve more deeply into consumer genomics. The name plays off the fact that two of three of the services to gather DNA use saliva which you spit into a tube and send in. Decodeme uses a buccal (means in the mouth) collection kit, but never says what it's collecting. After several weeks, the results are published in your online account at the service you chose. The tests will also provide ancestry information and help trace where your genetic clan came from geographically through the ages.
There's reasons to do it and not do it. Spending the money, privacy and wanting to know or not about where your genes are aiming you strike me as the obvious arguments. I'm very curious, following the adage that information is power. If I got overwhelming evidence that my arteries were going to clog, I might watch my diet a little more and boost my statin dosage.
Meanwhile, there's much to learn from exploring these sites. The video below is 23and me co-founder Linda Avey explaining the benefits of consumer genotyping at a conference last month.