Genomes galore

I see that the $1000 genome is now an official US government project. NIH's genome institute (NHGRI) just announced this genetic equivalent of going to the moon. The agency is spending $32 million to develop technology aimed explicitly at sequencing genomes of individual patients for $1000, long an informal goal among genome scientists. NHGRI's announcement comes on the heels of (and was perhaps provoked by?) papers describing two new sequencing methods that would bring the cost of the Human

By | August 11, 2005

I see that the $1000 genome is now an official US government project. NIH's genome institute (NHGRI) just announced this genetic equivalent of going to the moon. The agency is spending $32 million to develop technology aimed explicitly at sequencing genomes of individual patients for $1000, long an informal goal among genome scientists. NHGRI's announcement comes on the heels of (and was perhaps provoked by?) papers describing two new sequencing methods that would bring the cost of the Human Genome Project down to a million or two. (The original cost nearly $3 billion. Yes, that's a "b".) NHGRI's goal is medical because that's what NIH does. This futuristic vision is about desktop sequencing in a doc's office that will tell you whether you're at risk for heart disease or cancer. But of course that's not the only potential application. Look for more sequencing in the criminal justice system. I like cheap sequencing's possibilities for peering into the genome of any organism that takes our fancy. Top of my list would be Axolotl. We could all use regenerating. But amid the huzzahs, let us pause to recall that--as usual--spiffy new technology will hand us quandaries. Do you really want to know whether you're headed for heart disease or cancer? Worse, do you want your employer and your health insurer to know? And that's not all, as another paper published this week shows. It explores the public health consequences of what the authors demurely call "paternal discrepancy." When I served time in a genetics clinic back in the last century, occasionally lab results showed that the man sitting in front of us could not be the father of the patient. We called it "nonpaternity." (Although not, of course, to his face. To his face the doc beamed and announced, "Great news! There is hardly any risk of this disease in your future children!" In those days it was still OK to tell a medical lie if you meant well.) At the clinic, the rule of thumb was that nonpaternity would confound the diagnosis and risk calculations in about 10% of cases. Great news! The paper suggests that monogamy is not wholly dead after all. Overall population occurrence looks to be lower than 10% (median under 4%), although the range is huge, up to 30% in some groups. Still, one result of cheap genomes will be a big increase in this distressing disclosure. Even today, well over 300,000 paternity tests are carried out annually in the US--many with the help of home test kits. As the paper points out, we're unprepared for the ensuing family disruptions and medical records messes. Another paper in the same journal suggests an additional worry: It reports that men who are anxious or nervous have a significantly increased risk of suicide.
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