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Chasing a Disease to the Vanishing Point

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Science  16 Apr 2010:
Vol. 328, Issue 5976, pp. 298-300
DOI: 10.1126/science.328.5976.298

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Familial dysautonomia (FD), in which blood pressure and heart rate are improperly regulated, is just one of a rapidly expanding set of diseases for which carrier testing is available or soon will be (see sidebar). In 2001, the American College of Obstetricians and Gynecologists recommended that before having a child all couples be offered carrier testing for cystic fibrosis, the first such push to make carrier testing available to everyone. Last year, a California company called Counsyl began selling a genetic test for $349 that screens for mutations for more than 100 genetic diseases. Technology has advanced to the point that once an individual is being tested for one gene mutation, it's easy to include dozens more. Some of these diseases will become extraordinarily rare—as FD has—though they may never vanish completely. What does this mean for patients and families living with these conditions, and for physicians and researchers who have dedicated their careers to them? The communities are better off but shrinking at the same time.