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Study Questions Genetic Screening for Treatable Diseases
Date:9/18/2007

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There were 82 couples at risk for children with type 1 GD. Seventy of the 82 couples (85 percent) were at risk for asymptomatic or mildly affected children, and 12 of the 82 couples (15 percent) were at risk for moderately affected children, the study found.

Prenatal diagnosis was performed in 68 of 90 (76 percent) pregnancies, and pregnancies were terminated in four of 16 (25 percent) cases of fetuses with Gaucher disease. Of the four aborted fetuses, two were predicted to have asymptomatic, or mild GD, and two were predicted to have moderate disease.

The study found that there were far fewer pregnancy terminations among couples who, in addition to receiving genetic counseling, also had medical counseling with a Gaucher disease expert -- one of 13 (eight percent) of pregnancies, compared with three of three (100 percent) among couples who did not receive medical counseling.

"With respect to the stated goal of carrier screening programs, the main practical outcome of GD screening was a 66 percent reduction in birth prevalence for moderate type 1 GD, for which the estimated frequency is 1 in 27,000, and a 15 percent reduction in the birth prevalence of asymptomatic or mild type 1 GD, for which the estimated frequency is 1 in 1,300. This was achieved through termination of pregnancy of fetuses either treatable or likely to be asymptomatic, and it is debatable whether this represents a true benefit," the study authors wrote.

They noted that the Israeli Medical Geneticists Association has recommended against Gaucher disease screening.

In an accompanying editorial in the journal, Dr. Ernest Beutler, of the Scripps Research Institute in La Jolla, Calif., said, "Not until clinicians and researchers better understand the factors that determine whether a patient homozygous for the N370S (GD) mutation will develop severe disease or none at all will screening for Gaucher disease become useful. Until then, screen
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