Gaucher disease study results prove disturbing

Thirty-five years after genetic screening was used to identify babies at risk of being born with debilitating diseases, a new study of a potentially serious but treatable illness among Ashkenazi Jews questions whether such testing has gone too far.

One-quarter of fetuses found to have Gaucher disease were aborted over an eight-year period, even though half of all children with the metabolic disorder will never experience any symptoms and the rest can lead normal lives with treatment.

The researchers found that among couples who met with a Gaucher expert and learned that the disease is treatable, only 8 percent chose to terminate their pregnancies. All of the couples who didn’t have those meetings opted for abortion.

The disparity underscores what some experts say is a flaw in genetic testing — it provides a bounty of knowledge that is not necessarily accompanied by wisdom.

The study, published Wednesday in the Journal of the American Medical Association , tracked nearly 29,000 Israelis who opted to be screened for mutations in their DNA that could lead to Gaucher disease in their children if they inherit faulty genes from both parents.

Dr. William Wilcox, who treats Gaucher patients at the Medical Genetics Institute at Cedars-Sinai Medical Center in Los Angeles and was not involved in the study, said that given the ambiguity inherent in some genetic tests, they should not be given for diseases that are imminently treatable.

“Personally, that horrifies me,” he said. “Why is it there? Because we can do it. But just because we can doesn’t mean we should.”

Others say abandoning the genetic test would unfairly deny couples genetic information about their offspring.

“It’s an opportunity to gain information which some people might want,” said Karen Grinzaid, a genetic counselor at Emory University in Atlanta who coordinates care for Gaucher patients there. “It’s their decision about what they want to do with that information.”

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