What are “Jewish genetic diseases”?

A group of autosomal recessive inherited disorders that occur with greater frequency in the Ashkenazi Jewish population. This means individuals of Ashkenazi Jewish or Eastern European ancestry have higher carrier rates for these diseases than members of other ethnic groups.Frequently asked questions (FAQ) or Questions and Answers (Q&A), are listed questions and answers, all supposed to be commonly asked in some context, and pertaining to a particular topic.

How are Jewish genetic diseases inherited?

Jewish genetic diseases are “autosomal recessive” disorders, meaning 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.

What happens if I’m a carrier?

Being a carrier usually has no impact on an individual’s health; however, as a carrier you can pass a genetic mutation to your children. If you’re 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.

What is carrier screening and who should be screened?

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. Screening before pregnancy is recommended for all:

  • Ashkenazi Jewish ancestry (who came from Eastern or Central Europe, such as Russia, Poland, Germany, Ukraine, Lithuania…), Sephardic (Northern Africa or Spain) or Mizrachi (Mid-East).
  • Any patient whose partner has Ashkenazi, Sephardic or Mizrachi Jewish ancestry.
  • Any partner of a patient found to be a carrier for a Jewish genetic disease.
  • Any patient interested in pre-conception population carrier screening.
  • Interfaith couples.
  • Gay or Lesbian couples who will be using an egg or sperm donor.
  • You have at least one Jewish grandparent
  • You are the Jewish member of an interfaith and interethnic couple
  • You are considering the use of egg or sperm donation where you or the donor has Ashkenazi Jewish ancestry.

There’s no history of genetic disease in my family. Do I still need to get screened?

Yes. Since carriers are generally healthy a recessive gene can be passed down many generations without manifesting. It’s 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.

I’m Jewish, but my partner isn’t. Do I still need to get screened?

Yes. The disorders described as “Jewish genetic diseases” occur in the general population, but at lower carrier frequency rate still occurs in the general population.

What if I’m Jewish, but not of Ashkenazi descent?

Sephardic and Mizrachi Jews are at increased risk of carrying mutations in genes for different diseases than individuals of Ashkenazi ancestry. The Victor Center panel is a pan-ethnic screening which means we can test anyone of any ethnic background.

Should I be screened if I’m already pregnant?

Yes. Talk with your medical provider about genetic testing as soon as possible. If you’re pregnant, you and your partner will be screened simultaneously. The results will dictate what steps your doctor or genetic counselor recommend moving forward.

What options do we have if my partner and I are both carriers?

There are reproductive options for carrier-carrier couples, including prenatal genetic diagnosis with CVS (chorionic villi sampling) 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, is available, as well as egg or sperm donation. A genetic counselor can explain the full range of options to you and your partner.

What if I’m in a same sex relationship?

Screening is recommended for you or your egg/sperm donor.

What happens to my test results? Are they confidential?

Copies of your results are held by the Victor Center and the testing laboratory. Your results are completely confidential, protected by the 2008 Genetic Information Nondiscrimination Act (GINA) which provides federal protection from genetic discrimination by health insurers or employers. The test results are only sent to you or a physician you request they be sent to. Without your permission, these records cannot be given to anyone, even your spouse!