Prevention of Jewish Genetic Diseases

Screening and Counseling

Prepare for the future safely with virtual screening now

If you have any Jewish heritage, screening for Jewish genetic diseases is safe, affordable, and accessible. Jewish genetic diseases are inherited disorders that have a higher carrier rate in the Jewish population, particularly among those of Eastern European ancestry. Many of these disorders are severe and life-threatening and most occur in families with no history of Jewish genetic diseases.

Genetic screening determines if someone is a carrier for an altered copy of a gene for a Jewish genetic disease. Being a carrier usually does not affect an individual's health, but if two carriers for the same diseases have children together, there is a 25 percent chance, with each pregnancy, that they will have a child with that identified illness.

With our changing population, the pan-ethnic panel is recommended. Patients can be screened for more than 280 diseases in the extended carrier screening or pan-ethnic panel which covers 101 Jewish genetic diseases. The pan-ethnic carrier screening panel is not based on specific ancestry. If you are unsure of your heritage, the pan-ethnic panel is recommended.

Each year the testing panels expand and it is recommended to learn about diseases added to the panel before each pregnancy. American College of Medical Genetics (ACMG) supports extended carrier screening in all populations.

Call 1.800.EINSTEIN or send an email to preventJGD@jefferson.edu for more information. 

Invest in your future

Virtual counseling and screening for preventable Jewish genetic diseases is safe, affordable, and accessible.

  • There is no preparation for the testing and usually results are available in four to six weeks.
  • You do not need to fast, and blood can be drawn at any time of day.
  • If you have a partner, it is recommended that your partner be screened at the same time.
  • It is recommended that you share your results with your PCP and OB/GYN.
  • If you are on your parent’s insurance plan, you may want to disclose to them that you are being screened.

Einstein works with genomic labs and insurance providers to give the patient the best possible price. Some insurance providers cover preconception screening and genomic lab staff will review details about payment plans for balances not covered by insurance. Testing costs and coverage vary depending upon genomic lab used and your insurance plan. Depending upon your co-pay/deductible you may have out-of-pocket cost; a genetic counselor will help navigate the process.

Your insurance may require medical verification from the genetic counselor before authorizing the screening. Genetic counseling is required prior to screening (bloodwork) and an appointment with a counselor may last 45 minutes to one hour. During that appointment, a brief history is taken and you will learn about genetic diseases and testing, as well as the chances of being affected so you can make an informed decision. The genomic lab staff will facilitate the steps to complete the insurance prior-authorization process.

Depending upon your deductible and co-pay, you may have out-of-pocket expenses for your appointment. Ability to pay is not a barrier to taking part in counseling and screening to prevent Jewish genetic diseases.

Get the facts

If you were previously tested, you may be able to obtain those results by contacting the Prevention of Jewish Genetic Diseases program at preventJGD@jefferson.edu. New genes/diseases have been identified and are now part of the screening panel. Depending on when you were screened, it may be beneficial to learn about new diseases added to the panel before each pregnancy.

Take Control - You CAN have healthy children if you are a carrier. If you and your partner are found to both be carriers for the same disease(s), a genetic professional can speak with you about your options. These include egg/sperm donation, in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) and prenatal diagnosis.

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