Wednesday, March 24, 2010

A bullet in the head

He was only 35 years old, when he wrote a few cordial notes to friends and family. He carefully folded them, addressed their envelopes, and then called the police to let them know where to find him. Then he put a bullet through his head.

Our young acquaintance suffered from Marfan syndrome. This is a genetic disorder in which for most instances the gene is known. It leads to disproportionately tall stature, and a variety of health problems. They often affect the heart and its major vessels. They contribute to a life of pain, and the need for repeated major invasive surgery, such as to patch aneurysms in the aorta, the main blood vessel running through the body. At present, this surgery is necessary throughout life--in our friend's case every two years forever. Marfan victims suffer a not surprising range of social and adjustment problems as well. There is no known cure.

This is a clearly genetic problem, with focused tissue effects. It should be a suitable target for genetic research if ever there was one. Of course, there are geneticists working on ways to engineer a patient's way out of Marfan syndrome, and hopefully measures can be developed to replace a defective gene in a mutation carrier, though upwards of 30% of cases are due to mutations that arise anew, and need a different approach (such as the one described here, just the kind of application of genetics that we're talking about).

This is what genetic research should be doing, and on a much more intensive scale, for the many diseases that really are genetic. Instead of the huge and swelling investment in large association studies for traits that are mainly due to lifestyle factors, whose fraction of genetic 'cause' is due to tiny variation in hundreds of genes. Geneticizing things that aren't really genetic draws attention, funds, and talent away from the real problems--from research in genetics for things that are truly genetic, and effective prevention for the major, common traits that aren't.

It is instances like our friend's that motivate our criticism of the system that insists on major investment in genetics, for everything and anything, when for most of us genes aren't responsible for our major health problems. If the same funds were to go where they might do some much greater good, traits that are genetic could be those that could really be prevented.

And then fewer people would feel they have to put a bullet through their head.

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