Slashdot Mirror
Renowned Geneticist Analyzes Consumer DNA Tests
pdragon04 sends in the hardly surprising news that direct-to-consumer genetic testing isn't predicting diseases as well as they claim. "...[Francis] Collins, who played a central role in the Human Genome Project and is rumored to be the next head of the National Institutes of Health, announced at the Consumer Genetics Conference in Boston last week that he had had his genome analyzed [using a made-up name] by the big three of direct-to-consumer genetic testing: 23andMe, Navigenics, and DecodeMe. Collins said that sequence-wise, the tests 'appear to be highly accurate': there were almost no differences in the genotype information generated in the three different analyses. But there were significant differences in the numbers of genetic variations used to calculate disease risk, as well as the final risk score. ... For example, one company used 5 single nucleotide polymorphisms, or SNPs, to calculate risk for a particular disease, pronouncing Collins at low risk. Another used 10 SNPs, placing him at high risk, and the third used 15, concluding that he is at average risk."
Genotype doesn't completely determine phenotype but it does provide some input. Genotype with environmental effects and stochastic elements determines phenotype (broadly speaking, I'm oversimplifying slightly since how one classifies epigenetic factors is complicated). Moreover, genotype is a major factor. So if I know information about the genotype I can prepare a lot. If for example I have an allele that is connected to increase risk of colon cancer, I know to have colonoscopies more often. If I'm a female with a bad BRCA1 allele I know that I should have my breasts checked much more regularly. Etc. Your comment is sort of like saying "why should I learn about my family medical history if knowing about it can make my insurance premium go up?"