Gaucher Disease

Study Examines Implications of Genetic Screening for Certain Disease That Can Be Less Serious, Treatable

Published in Gene Therapy Weekly, October 4th, 2007

Some couples in Israel whose fetus screened positive for Gaucher disease, which can range from being mild and treatable to being a severe disease, decided to have the pregnancy terminated, raising questions concerning the appropriateness of certain types of genetic screenings, according to a study in JAMA.

“Carrier screening can reduce the burden of genetic disease, especially in populations in which specific diseases are common. Although generally performed for severe, untreatable disorders, carrier screening for less serious yet prevalent conditions is also possible, but there is little information on its implications, even though it is likely to become more common,”...

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Source: Gene Therapy Weekly (2007-10-04)

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