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Sunday, April 19, 2009

Do You Want to Know the Sequence of Your Genome?

It's very likely that each one of us carries several recessive lethal alleles and many alleles that make us more susceptible to various diseases. You can count on it.

Do you want to know which of the many known deleterious alleles you have in your genome? That's one of the questions asked in an article published in The Economist: Getting Personal.
Though he has the world’s most advanced gene-sequencing technology at his fingertips, Dr Altshuler refuses to get his own genome sequenced: “If someone gave it to me on a CD, I’d refuse to look at the disc. The information is meaningless.” Bill Gates agrees. He has not had his genome sequenced either, nor does he plan to, though after a moment’s reflection he adds, “unless I find out I have cancer.”
Keep in mind that there's nothing much you can do if you find out that you have a predisposition for cancer or some other disease, like Alzheimer's. You can change your lifestyle but it's not clear whether that will change the probabilities significantly. Furthermore, there are so many claims out there about how to prevent disease that you'll never be sure you're doing the right thing.

And what do you do if you want to have children with someone who also knows their genome sequence? Figure out the probabilities that your children will not inherit any of your bad alleles. Is that a responsibility that you want? Why?

I'm with David Altshuler on this one and so was John Hawks until recently. Now John is changing his mind—Turning ACGT into poetry. Part of my problem is that I don't feel very comfortable seeking advice from a for-profit company when it comes to interpreting my genome sequence. But we won't have much choice; there's absolutely no way that the average person is going to be able to do the interpretation, so they will have to pay for it. And they'll have to get an update every few years as we learn more about human genes. (Whole genome interpretation is not a service that will be covered by socialized medicine.)

Do you want to know the sequence of your genome? Assuming that you can afford the sequencing cost, how do you intend to use the information and how will you interpret it?


  1. I know someone who is getting an advanced degree in genetic counseling for couples--to help them process/understand sequencing their results. Unfortunately, it's a psychology degree, so I'm not sure how helpful this service will be.

  2. I'd have my genome sequenced if I could afford it (a proper sequence, not a SNP-chip). I don't know how anyone, especially a genome biologist, could say that 'the information is meaningless'. Of course it's not. If anything, it's meaningless if you'd like to predict *now* complex diseases you may be susceptible to, but it's not meaningless if you want to know some recessive harmful mutations you may have (especially if you want to have kids), or even beneficial ones ;-) (the inversion polymorphism on 17q21 comes to mind), or if you want to learn about your ancestry (doh).
    And I would like to know about my Alzheimer future, as I could do couple of things sooner in my life, and arrange other things differently, before the disease hits me.

    But I can dig in the genome myself and I understand it a bit more than the average guy. It is true that for most people a proper 'genome counseling' is crucial so that they don't overdo themselves (or their kids - ACTN3, anyone?). The companies are OK if they're clear about what they do and what it means, and when there are people (like Mr. MacArthur) who can do the unbiased informing of the public about the services (but AFAIK the current businesses are rather good in this respect).

    And imagine if those companies collect hundreds of thousands of sequences which could be used in research. Having 100k genomes would increase the power of genomic analyses a bit, wouldn't it?