By: Dan Even

A team of experts is considering adding tests for diseases that develop in adulthood to the routine genetic tests that are done to young couples, when they plan to start a family. Now tests include diseases that develop in childhood. The team intends to recommend adding tests for hereditary diseases in adults, but the couple will have to receive genetic counseling first and then have the right to refuse the tests. "It is important that couples receive a detailed explanation of the tests and their meaning, and they will be allowed to refuse to perform them," explains a senior geneticist.

The National Council for Bioethics, which advises the Ministry of Health, established the team in response to a proposal to add one specific test for a mutation of the GNE gene that is common in Jews of Persian origin and causes HIBM, a neuromuscular disease that is currently incurable. HIBM begins as muscle weakness, only, when the patient is in his thirties and reaches complete paralysis. In a recent discussion held by the team of experts, supporters claimed that the introduction of such tests would stop the transmission of the disease to the next generation. But opponents argue that it will expose people to information they don't want to know. In this case they will probably become paralyzed. "Many people refuse to have tests, they say, they don't want to know if they will die young" says the senior geneticist. Opponents also fear that the expansion of testing will lead to an increase in the number of abortions. An Israeli study published in the monthly JAMA in 2007, that even in diseases that can be treated, such as Gaucher's disease, 25% of couples who were carriers performed an abortion.

"The tests included in the survey now are for diseases that begin in childhood," notes Professor Efrat Levy-Lahad, who shares the presidency of the National Council for Bioethics. "The question that should be asked is whether it is justified to terminate a pregnancy because of a disease that will only develop in adulthood."

The council is also considering the expansion of the genetic counseling that accompanies the standard hereditary tests, the decision on this is expected within 6 weeks.

Because the current tests check for childhood diseases, the genetic counseling affects only the couple's children, while ignoring the consequences for the parents. But a genetic mutation can affect the parent even if he does not develop the disease it causes. For example, a mutation in the FMR-1 gene can cause autism or developmental delay in children, but women who carry this mutation show a high level of risk for early menopause and the development of neurological diseases such as Parkinson's disease later in life.

Genetic fabrications are very common in Israel, about 50000 couples do them every year, according to the Ministry of Health. Not all tests in the standard package are covered by the health basket, but supplementary insurances offer discounts on the tests

 Haaretz website...