For Healthcare Professionals

1 in 4 Ashkenazi Jews is a carrier for at least one of 19 preventable genetic diseases.

As a healthcare professional your role is crucial!

 
Genetic counseling and preconception screening for 19 Jewish genetic diseases and updated screening for new diseases before each subsequent pregnancy should be standard protocol.
Adele Schneider, MD, FACMG,
Director of Clinical Genetics
Einstein Medical Center, Philadelphia

Arnold W. Cohen, MD,
Chairman, Department of Obstetrics and Gynecology
Einstein Medical Center, Philadelphia
 
WHAT ARE THE CURRENT JEWISH GENETIC DISEASES FOR WHICH SCREENING IS NOW AVAILABLE?

Download the full list here including approximate carrier frequency, symptoms and available treatments.

WHICH PATIENTS SHOULD YOU TALK TO ABOUT BEING SCREENED?
  • Jews of eastern or central European descent (Ashkenazi)…1 in 4 is a carrier for at least one of 19 preventable genetic diseases.
  • Patients who have any Jewish heritage, even if just one of their grandparents was Jewish. When in doubt, screen!
  • Interfaith couples. The Jewish partner should be screened first. If a Jewish partner is a carrier, the non- Jewish partner should be screened. These diseases occur in the general population, although at a lower frequency.
  • Once an individual is identified as a carrier, refer him or her for genetic counseling to review the results and discuss screening for other family members.
  • Anyone who is considering becoming pregnant through donor egg/sperm and has Ashkenazi ancestry should be screened. If either the patient or donor has Jewish ancestry the Ashkenazi Jewish person should be screened first.
WHICH COUNTRIES ARE EASTERN OR CENTRAL EUROPEAN?

Austria, Czech Republic, Estonia, Germany, Hungary, Latvia, Lithuania, Poland, Romania, Russia, Slovakia and the Ukraine.

WHEN SHOULD YOUR PATIENTS BE SCREENED?
  • Ideally before becoming pregnant.
  • Update screening before every subsequent pregnancy. Advances in technology may enable testing for new diseases.
WHERE CAN PATIENTS GO FOR SCREENING?
  • In your office. Blood samples should be sent to a CLIA-certified lab.
  • Contact Karen Grinzaid at the Atlanta Jewish Gene Screen at 404-778-8516 or Karen@atljewishgenescreen.org.
  • Please click here to view upcoming screenings.
  • Click here to sign up for email updates.
WHAT DO YOUR PATIENTS NEED TO KNOW ABOUT INSURANCE COVERAGE?
  • Patients should ask their insurance company about coverage for each disease to ensure that it covers each of the 19 diseases for which testing is recommended. To download an insurance script click here.
  • To download our financial assistance guidelines, click here.
  • To apply for financial assistance, click here
  • If you or your patients have questions about navigating the verification process for medical insurance, contact the Victor Center at info@victorcenters.org or 877-401-1093.

Please also visit www.jewishgeneticanswers.org to ask genetics experts about Jewish genetic diseases and how they can be prevented.