Prevention of Jewish Genetic Diseases
Preventable Jewish Genetic Diseases
Knowledge is power
1 in 2 Jews is at risk of being a carrier for preventable Jewish genetic diseases. If both parents are carriers of a mutation in the same disease gene, there is a 25 percent chance with each pregnancy of having a child affected by that disease, and a 50 percent chance of having a child who is a carrier for the same disease(s), just like their parents.
Healthy carriers can pass gene mutation from one generation to the next. Many of the diseases are devastating and fatal but, with screening, these diseases can be prevented.
What are Jewish genetic diseases?
Jewish genetic diseases are "autosomal recessive" disorders that occur with greater frequency in the Ashkenazi Jewish population. Individuals of Ashkenazi Jewish or Eastern European ancestry have higher carrier rates for these diseases than members of other ethnic groups. A child will only be affected if his/her parents both carry a mutation or change in the gene for the same genetic disease. With each pregnancy, carrier-carrier couples have a 25 percent chance of having a child affected by the disorder and a 50 percent chance of having a child who is also a carrier.
Since carriers are generally healthy and being a carrier has no impact on an individual's health, a recessive gene can be passed down many generations without manifesting. It is impossible to know if a mutation for a genetic disease exists in any family without testing or having an affected child. Screening before pregnancy is the best way to ensure you know your carrier status and to enable you to have the most reproductive options when you plan your family.
If you are a carrier and planning a family, it’s critical that your partner get tested too, because parents who are carriers for a mutation in the same gene are at risk of having an affected child.
If you are carriers, you have options and can choose to have a healthy child. Through medical science and community support, you can choose egg/sperm donation, in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) and prenatal diagnosis.
Who should be screened?
Even if you are in an interfaith relationship, ensure that the Jewish partner is screened for all Jewish genetic diseases. If the Jewish partner is a carrier, the non-Jewish partner can be screened since these diseases also occur in the general population. Optimally, everybody of reproductive age should be screened.
Sephardic and Mizrachi Jews are at increased risk of carrying mutations in genes for different diseases than individuals of Ashkenazi ancestry. A genetic counselor can explain your options.
If you are already pregnant, speak with your medical provider about genetic testing for you and your partner as soon as possible.
If you are in a same sex relationship, screening is recommended if either you or your egg/sperm donor are Jewish.
Screening before pregnancy, also known as preconception screening, is recommended especially when the following family history is present:
- You are Jewish, have a Jewish parent, grandparent, or any Jewish ancestry
- You are the Jewish member of an interfaith or interethnic couple
- You are considering the use of donor eggs, sperm, or the donor is Jewish
- You or your partner are considering becoming pregnant
Carrier screening is a blood or saliva test used to identify mutations in genes for specific diseases that are severe and where the test has a high detection rate. The American College of Medical Genetics and Genomics provides guidelines for optimal screening protocols. Clinical geneticists and OB/GYNs agree the HexA blood test for Tay-Sachs is the best way to identify almost all Tay-Sachs carriers. This test cannot be done on saliva.
There is no preparation for the testing and you usually have the results within four weeks.
A genetic counselor will provide you with the results of your testing and a report will be provided. It takes four weeks to receive this information. Your results are confidential, protected by the 2008 Genetic Information Nondiscrimination Act (GINA) which provides federal protection from genetic discrimination by health insurers or employers. You will receive a copy of your results that you should share with your doctor(s).
Know your options
There are reproductive options for carrier-carrier couples, including prenatal genetic diagnosis with Chorionic Villi Sampling (CVS) or amniocentesis if you are already pregnant. If you know your carrier status before pregnancy, in vitro fertilization (IVF) with embryo testing, known as preimplantation genetic diagnosis (PGD), is available, as well as egg or sperm donation. A genetic counselor or geneticist will explain the full range of options to you and your partner.
National Tay-Sachs and Allied Diseases Association of Delaware Valley (NTSAD-DV) is a non-profit, volunteer health agency dedicated to the prevention and elimination of Tay-Sachs, Canavan and the allied diseases.
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