Telling couples their fetuses have a treatable genetic disorder leads many of them to terminate the pregnancy, researchers said on Tuesday, raising issues about genetic screening programs.
The study — the first to show what couples actually did when they learned their unborn child had such conditions — found the rate of abortions dropped sharply if the parents-to-be consulted specialist physicians.
"The interesting thing is, as a genetic community this has been going on and we haven't looked back to see the consequences of putting these screening programs into place," Ephrat Levy-Lahad, a geneticist at Shaare Zedek Medical Centre in Jerusalem said in a telephone interview.
"This is a cautionary tale of the future of genetics in general."
Levy-Lahad's team used data from 10 Israeli genetic centers on people screened for Gaucher disease, an inherited condition which can be effectively treated, and they interviewed couples by telephone.
Writing in the Journal of the American Medical Association, the researchers said genetic tests showed that 16 of 68 participating couples had a fetus with type 1 Gaucher disease, the mildest form, Levy-Lahad said.
Of those, four couples decided to end their pregnancies, including two whose fetuses would likely have had no symptoms, the researchers said. Overall, 66 percent of fetuses with mild Gaucher tendencies were aborted, they found.
Gaucher disease is caused by a defective gene that prevents the body from producing an enzyme that plays a critical role in removing and recycling worn-out cells.
Symptoms of the disease, far more common in Jews of Ashkenazi or European descent than in the general population, range from fatigue to blood disorders and respiratory problems in more severe cases.
Doctors often use genetic tests to screen for diseases such as cystic fibrosis to allow parents to end a pregnancy that would lead to a severely disabled child.
But the issue is far less clear when it comes to conditions like Gaucher disease and raises the question if tests for much less severe diseases should be given, Levy-Lahad said.
"The question parents ask is why were they ever screened and then they are faced with a difficult dilemma," she said. "Here the problem is medically instigated."
"It is debatable whether this represents a true benefit," the researchers wrote.
A key factor in making a decision, they added, was speaking with a medical specialist in addition to a genetic counselor as a way to learn more about the disease.
"Our results suggest that to avoid termination of pregnancies for mild conditions, even in a highly educated population, screening programs would require a combination of traditional, nondirective genetic counseling with medical counseling professionals familiar with the specific diseases," they wrote.