Tuesday, January 3, 2012

Human genetics: Genomes on prescription

http://www.nature.com/news/2011/111005/full/478022a.html

As prices fall further, some say that prescribing a genome sequence or analysis will become akin to requesting a magnetic resonance imaging (MRI) scan. "It's just like any other test in medicine. There's nothing remotely special about it," says David Bick, a clinical geneticist at the Medical College of Wisconsin in Milwaukee. But, he adds, "people will cry and scream and yell about that statement". That's true: unlike the results of most medical tests, a genome sequence provides a vast amount of difficult-to-interpret data, not all of which will be necessary for diagnosing or treating the patient's condition and which could provide unwanted clues to future health risks.

they identified a mutation on the X chromosome in a gene called X-linked inhibitor of Apoptosis, or XIAP (ref. 3). A deficiency of the protein encoded by this gene is known to put patients at high risk for a deadly immune-cell disorder,
http://www.nature.com/news/2011/111005/full/478022a.html#B3

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