Knowing about JGDs is a first step toward having healthy babies
Sometimes the process seems overwhelming…should I or shouldn’t I get screened? The simple answer is YES. If you are Jewish, if you have even one Jewish grandparent, in an interfaith relationship, straight or gay and between the ages of 18–44 and planning on having children, you should get screened.
1 in 4 Jews is a carrier for at least 1 of 19 preventable Jewish genetic diseases. If you and your partner are both carriers for the same genetic disease, there is a 25% chance with each pregnancy of having an affected child.
Getting screened before becoming pregnant, and before every subsequent pregnancy, if testing for additional diseases becomes available, can prevent the possibility of having an affected child. It’s a no-brainer… Here are some answers to common questions—
What does it mean to get screened for 19 JGDs?
It’s as simple as taking a blood test. *
If you are found to be a carrier, you are still healthy and not at risk for developing a JGD. What is at risk is the increased possibility that you will pass on a gene for Jewish genetic disease to your future children. That’s why we recommend that screening be performed before getting pregnant so that people have the most options to have a healthy baby. All individuals and couples who are screened through the Victor Center receive genetic counseling as part of the screening process.
* Testing for 19 with a saliva kit, an alternative method currently being offered, only measures for a limited number of mutations in the Tay-Sachs gene and some carrier individuals are likely to be missed. Therefore, we recommend that you get screened using a blood sample, not a saliva swab.
What diseases are screened for at the Victor Center?
The Jewish community across the U.S. remains generally unaware of the need to test for all 19 diseases. A simple blood test allows people to learn if they are carriers. This is where the Victor Center steps in. In the same way that public education about Tay-Sachs in the 1970s has all but eradicated the disease in the Jewish community, we have it within our power and within our lifetime the ability to ensure that no parent has to endure the heartache of a child born with one of these 19 diseases.
- Bloom Syndrome
- Canavan Disease
- Cystic Fibrosis (CF)
- Dihydrolipoamide Dehydrogenase Deficiency (DLD Deficiency)
- Familial Dysautonomia (FD)
- Familial Hyperinsulinism (FHI)
- Fanconi Anemia Type C
- Gaucher Disease Type I
- Glycogen Storage Disease Type IA (GSDIA)
- Joubert Syndrome
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis IV (ML IV)
- Nemaline Myopathy
- Niemann-Pick Disease Type A
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs Disease (enzyme and DNA)
- Usher Syndrome Type IF
- Usher Syndrome Type III
- Walker-Warburg Syndrome
Why should I be screened for JGDs?
Knowing if you are a carrier for one of the 19 preventable Jewish genetic diseases empowers you with knowledge that can be used to make the family planning decisions that are right for you. Since carriers show no sign of the disease, the only ways to find out that you are a carrier are to have a blood test or have a child with one of these diseases.
Discuss genetic testing with your healthcare provider if you are Jewish—or have even one grandparent who is Jewish—and are thinking about having a baby. Gay and interfaith couples who fit this profile should also be screened.
Where can I be screened?
- At your physician or OB/GYN. Request to be screened for all 19. If your doctor does not screen for 19, please contact Faye Shapiro, Victor Center genetic counselor, at 877.401.1093, or firstname.lastname@example.org.
- At a community or college campus screening, sponsored by the Victor Center. Check our website for upcoming dates.
- At a Victor Center location, if you live in or near Boston, Miami, Philadelphia or Pittsburgh.
What does genetic screening entail?
Genetic tests for JGDs are done on a small sample of blood (about a thimble-full). The sample is collected and sent to a lab that tests it for certain mutations in your DNA. You will usually receive results within a month. The Victor Center does not recommend saliva-based tests because it cannot measure the Hex A enzyme and does not offer the most accurate results. Only a limited number of mutations in the Tay-Sachs gene will be examined on DNA from saliva and likely will miss carriers.
How much does it cost to be screened through a Victor Center?
If you are screened at a Victor Center or a Victor Center community screening, and have ANY kind of insurance, the maximum cost to you is $99, depending on the state in which you live. If you do not have health insurance, the maximum cost is $350.