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Gaucher disease is relatively common among Ashkenazi Jews, and screening for the disease is offered to all couples in Israel in which both partners are at least partly Ashkenazi Jewish. To determine the outcomes of nationwide screening for Gaucher disease and examine how couples responded to counseling about the severity of disease and availability of treatment, investigators analyzed data from 1995 to 2003 from the 10 genetic centers in Israel that offer Gaucher disease carrier screening.
Among nearly 30,000 individuals screened, carrier frequency for Gaucher disease was 5.7%. Among 83 couples in which both individuals were carriers, 70 couples were at risk for having asymptomatic or mildly affected offspring, 12 couples were at risk for mo…