Researchers question genetic screening programs

Sep 20 2007

Researchers in Israel are questioning issues involving genetic screening programs.

The researchers say telling couples their fetuses have a treatable genetic disorder leads many of them to terminate the pregnancy.

The study by a team at Shaare Zedek Medical Centre in Jerusalem, is the first to examine what couples actually did when they learned their unborn child had a condition called Gaucher disease, an inherited condition which can be effectively treated.

Ephrat Levy-Lahad, a geneticist at the medical centre says the story is a cautionary tale of the future of genetics in general.

The team used data from 10 Israeli genetic centers on people screened for the disease, where the tests showed that 16 of 68 participating couples had a fetus with type 1 Gaucher disease, which is the mildest form of the disease.

Of those sixteen, four couples, on the basis of the test, decided to end the pregnancy; this included two couples whose fetuses would probably have had no symptoms.

The researchers found that 66 percent of fetuses with mild Gaucher tendencies were aborted.

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.

The disease is far more common in Jews of Ashkenazi or European descent than in the general population, and symptoms range from fatigue to blood disorders and in more severe cases, respiratory problems.

Since 1995 Ashkenazi Jews have been offered screening globally and in Israel.

Genetic tests are often used by doctors to screen for diseases such as cystic fibrosis, in order to allow parents to end a pregnancy that would lead to a severely disabled child.

However when it comes to conditions such as Gaucher disease the issue is far less clear and raises the notion of genetic manipulation and whether tests for much less severe diseases should be given in the first place.

The researchers say before reaching a decision, parents should speak to a medical specialist in addition to a genetic counselor in order to learn more about the disease.

The researchers suggest that to avoid termination of pregnancies for mild conditions, screening programs would require a combination of traditional, nondirective genetic counseling with medical counseling professionals familiar with the specific diseases.

The study is published in the Journal of the American Medical Association.