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Screening Disease Away

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Science  16 Apr 2010:
Vol. 328, Issue 5976, pp. 300
DOI: 10.1126/science.328.5976.300

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When it comes to genetic diseases, deciding who to screen can be difficult. Many early programs targeted specific populations whose members are more likely to carry the disease mutations. For example, the Jewish community began aggressive enzyme testing for Tay-Sachs in the early 1970s, and that disease has almost vanished among Jews. But Tay-Sachs shows up in non-Jews as well. While about 1 in 27 Ashkenazis are carriers, about 1 in 250 in the general population are. Most new cases of Tay-Sachs are now in non-Jews, whose physicians don't think to offer them carrier testing or consider it cost-effective.