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I don’t want a 23andMe — I want the real genetic tests

Started by Andrew Yates · 9 months ago

Our friendly government lists some available genetic tests: these are the real deal, high penetrance tests for things you already have or conditions you will get.
Unlike Sergey Brin, I don’t particularly care about a mutation that gives me a slightly increased risk for a disease. ... Continue reading »

10 comments

  • Andrew Yates

    9 months ago

    You could probably do this, Kevin, if you had the technical ability, a PCR machine, and knew which primers to order...
    reply
  • Kevin

    9 months ago

    "--" is automatically changed to an em dash in Wordpress -- that is quite possibly one of the best features I have ever seen in a program.
    reply
  • saxonov

    9 months ago

    One clarification re "I don’t particularly care about a mutation that gives me a slightly increased risk for a disease. " The increased risk is not slight.

    This mutation is actually quite penetrant. It increases one's baseline risk by a factor of about 20, which is why Sergey said that his chances of developing PD are between 20 and 80%.
    reply
  • Kevin Fischer

    9 months ago

    Do you have a source for that? I was going off of Steve Murphy's post here: http://thegenesherpa.blogspot.com/2008/09/lrrk2...
    reply
  • saxonov

    9 months ago

    Yeah, the high penetrance is very well established. So there are many references.
    For example, here is a pretty big paper that came out in July: http://www.ncbi.nlm.nih.gov/pubmed/18539534
    Also, this is a good resource:
    http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?b...
    (scroll down to penetrance).
    reply
  • helixhealth

    9 months ago

    Not really well established if you rely on the 3 papers which published different results and penetrance rates all over the place....

    I am writing the authors of the gene tests article, b/c there is hype in it.

    -Steve
    www.thegenesherpa.blogspot.com
    reply
  • drb

    9 months ago

    You really should be careful with referencing random blogs like that. They can claim anything. Sergey's post is quite clear about the penetrance. There is enough misinformation about genetics on the web already.
    reply
  • helixhealth

    9 months ago

    Kevin, DId you read the paper or the abstract?
    -Steve
    www.thegenesherpa.blogspot.com
    reply
  • neandrothal

    9 months ago

    According to the Sherpa's own blog post (http://thegenesherpa.blogspot.com/2008/09/lrrk2...

    "And even if you are Jewish, the penetrance of this mutation is 24 to 85%."

    Sergey Brin is Jewish. Penetrance is defined as the probability of disease given the mutation. "24 to 85%" is completely consistent with Brin's 20-80% quote.

    So Sergey's post is completely relevant. He has found out information about himself that according to studies *specific to his ethnicity* give him a 20-80% chance of getting Parkinson's, a dramatic increase above the <1% chance in the general population.
    reply
  • cags

    9 months ago

    Legally, any medical test must be ordered by a physician. What Brin did was not legal, and he really should not have done it outside of the context of a physician, particularly one with a genetics background. This is dangerous territory
    reply

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