One in five individuals of Ashkenazi Jewish descent is a carrier for one of several conditions which can cause devastating illness in the child of parents who are both carriers.
In the 1970s and early 1980s, the only test available was for Tay-Sachs. Due to major Jewish community testing, the incidence of this condition has dropped by 90%. In the early days of testing, accuracy was not as good, and some couples whose parents had been tested very early found that out the tragic way. Even if the parents have been tested and found not to be carriers, their children should still be screened as the results are now more accurate.
Another consideration is if a partner is not of Ashkenazi Jewish background. Again, because of Jewish history over the centuries, many people do not really know their origins. Many non-Jewish individuals today may have Jewish origins of which they are unaware. There are also some genetic conditions found in the Sephardic community.
The Victor Center for Jewish Genetic Diseases has branches at several medical centers in Philadelphia, Boston and Miami. Experts from the center were interviewed here on the importance of this screening.
"Taking time for a quick blood test to screen for these diseases can give you peace of mind," says Adele Schneider, MD, director of Medical Genetics at Albert Einstein Medical Center in Philadelphia, where screening and counseling are offered through the Victor Center for Jewish Genetic Diseases. "So we encourage young couples to add this simple blood test to their wedding 'To Do' list," she adds.The fragmenting of good genealogical health records due to immigration and historical events means that there could be a long history of carriers in a family that no one knows about.
Getting screened before starting a family offers more reproductive options to couples for having healthy children. It also means that decisions can be made in a more relaxed way, rather than under extremely stressful circumstances as often happens during pregnancy.
Ashkenazi Jews, those of Eastern European descent, have a higher risk of being a carrier for a mutation in a gene for a Jewish genetic disease of which Tay-Sachs is the best known. There are at least 11 diseases that occur more often among this group. These diseases include: Familial Dysautonomia, Canavan disease, Gaucher disease, and Bloom syndrome, among others. Some of the conditions are fatal in early childhood, and some result in the need for lifelong medical care.
They are difficult to manage and greatly impair the affected person's quality of life and the lives of family members.
Since a carrier is healthy, there is usually no family history of any of these diseases. So there are two ways to find out if you are a carrier - to have a blood test or have an affected child. Even though carriers do not have the disease, they can pass the gene mutation to their offspring.
Couples should check with their insurance companies to find out what coverage is offered. A full panel screening can cost a few thousand dollars. While most insurance covers testing for pregnant women, doctors believe tests should be done before pregnancy.
The Victor Center offers screening tests and genetic counseling at a reduced fee for adults, college students, newly engaged couples and newlyweds for the 11 diseases (Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia Type C, Gaucher Disease, Glycogen Storage Disease Type 1a, Maple Syrup Urine Disease, Mucolipidosis IV, Niemann-Pick Disease Type A, and Tay-Sachs Disease).
Check the Victor Center's website for more information.