CHICAGO — Before the flurry of wedding planning activity begins these days, some Jewish couples are getting screened for a variety of genetic disorders that strike Jews more frequently than the overall population.
“It’s important to know what your risks are and aren’t,” one bride said. “That way, when you decide to have children, you can go into the situation knowing all the facts. You can just plan better.”
Knowledge is the key to prevention when planning a family, according to Karen Litwack, director of the Chicago Center for Jewish Genetic Disorders. Before having children, Jewish couples ought to be screened for Jewish genetic disorders in order to play it safe, she said.
“If young couples get screened before they start a family, they present themselves with more options,” she said. “If they wait to be screened until after pregnancy, they have more limited options.”
Genetic screening — which consists of a simple blood test — involves large-scale testing of an entire population, the Jewish population in this case. Groups of individuals are tested to identify defective genes capable of causing hereditary conditions.
Abnormal genes for Jewish genetic disorders — such as Tay-Sachs disease, Canavan disease, Gaucher disease, Familial Dysautonomia, and Bloom syndrome — are silently handed down through the generations in an inheritance pattern called “autosomal recessive,” according to the National Foundation for Jewish Genetic Disorders.
In autosomal recessive inheritance, two copies of the same gene are needed to have an affected child. If both parents carry that particular gene, there is a 25 percent chance in each pregnancy of having a child with the disease. If a couple discovers that both carry the genetic defect, after the woman becomes pregnant they may determine, through prenatal diagnosis, whether or not the embryo or fetus has inherited the abnormal gene from both parents and has the disease.
The Chicago genetic center, created in 1999 and the only one of its kind in the country, acts as a voice in the Jewish community that translates medical research into accessible information for individuals and families through public education and awareness along with screening and prevention programs.
Most physicians advocate screening for the disorders, particularly for Ashkenazi Jews, the population most susceptible to Jewish genetic diseases. Although the disorders may affect Sephardi Jews and non-Jews, some diseases afflict Ashkenazi Jews as much as 20 to 100 times more often, according to the genetic center.
“Screening provides couples with much more freedom of choice,” Litwack said, “and avoids what could be a devastating decision later on.” A cooperative program, the Chicago center is supported by a three-year grant from the Michael Reese Health Trust.