Add Jewish Genetic Disease Screening to Your Wedding 'To Do' List
Planning your wedding can be a mixed bag of fun and stress, requiring a great deal of thought and organization. With so many logistics to manage, couples are probably not thinking about being screened for Jewish genetic diseases. One in five individuals of Ashkenazi Jewish descent is a carrier for one of several diseases that can cause a devastating illness in a child of a couple who are both carriers.
"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.
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. There could be a long history of carriers in a family that no one knows about. These are autosomal recessive conditions so in order to have an affected child, both parents must be carriers. There is a one in four chance of having an affected child with each pregnancy if two people who are carriers of a mutation in the same gene have a child together. "This is why it's a good idea to be proactive and ask your doctor about testing," says Dr. Schneider.
Cost is a consideration for many couples since a full panel screening can cost up to $3,000. Most health insurance covers testing for pregnant women, but doctors and public health advocates believe the tests should be done before pregnancy. "Couples should check with their insurance companies before starting a family to find out what coverage they offer," advises Dr. Schneider.
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).
It's recommended that even if a person's parents were tested and found not to be carriers, their children should still be tested. For today's young adults whose parents were tested before they were born, the only test available in the 1970s and early 1980's was for Tay-Sachs disease. Testing is more accurate now. Also, people should consider getting screened even if their partner isn't an Ashkenazi Jew since these disorders occur in the general population, but at a lower rate than Ashkenazi Jews.
As people make arrangements for their wedding, they may want to think about having a simple blood test, an activity that will impact their life well beyond their special day.
For more information about the Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center, contact Shoshana Rosen, Outreach Coordinator, at 215-456-7875 or visit www.victorcenters.org. (There is a Victor Center at the Floating Hospital for Children at Tufts Medical Center in Boston, and a Victor Center at the University of Miami Miller School of Medicine in Miami).