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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."

3 of 97 comments (clear)

  1. Re:Why would you do this? by JoshuaZ · · Score: 4, Interesting

    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?"

  2. Re:Francis Collins and "cdesign proponentism" by spiffmastercow · · Score: 2, Interesting

    Francis Collins also believes that Jesus rode dinosaurs. He was once a respected scientist, but then he took a short step off a long intellectual pier. Why should I give his advice any consideration?

    Because you don't want to commit an ad hominim fallacy?

  3. Re:Why would you do this? by Moridin42 · · Score: 2, Interesting

    I know its tempting to think of hypotheticals such as your cancer sufferer. Unfortunately in the current climate, it isn't a choice between "hmm, I know I'm prone to x disease let me take y preventative action" and "let me blow off knowing anything about my genetics." If I look at it from the position of your example, testing won't do any good whatsoever. He already has the condition. I might wish to have the option to swap money for having this information in the past. Fantasies are nice, sometimes very nice, but they are by definition not reality.

    The gp is being pragmatic, not idealistic. The question you must ask, given the current climate and behavior of the healthcare industry, would I want to know about my dna if that information is also likely to land in the hands of others. It is somewhat similar to playing the lottery, hitting the roulette tables, or dropping some coins into a slot machine. Gambling. Yes, you can learn something about yourself. But you do so at the risk of letting other people learn the same information. The healthcare industry can take two routes, basically, to pay for the cases that come up. A) Healthy people overpay to cover the costs of the sick people or B) the company can charge you more when you're healthy to cover the costs of when you're sick. In the absence of information as to the at-risk, A is the only viable option. Start digging up such information and B suddenly becomes possible.

    Yes, I know those cases aren't spot on. But I'm not writing a detailed analysis of any particular industry here.

    --
    I don't expect morality, equality, consistency, or justice from the law. I expect only legality.