Prevention of Jewish Genetic Diseases

Healthcare Providers

You can make a difference.

Healthcare providers can help prevent Jewish genetic diseases. Talk to young-adult patients with any Jewish heritage, and encourage them to be screened for preventable Jewish genetic diseases. It is affordable, accessible, and virtual.

In collaboration with genomic labs, healthcare providers can order testing for their patients. The path is simple to prevent Jewish genetic diseases; for additional information about ordering counseling and screenings, medical providers can reach out to preventJGD@jefferson.edu or 1.800.346.7834.

If a patient has ANY Jewish ancestry, they should be screened for preventable Jewish genetic diseases. Medical providers should encourage patients who meet, any of the following criteria, to be tested for Jewish genetic diseases.

  • Are Jewish, have a Jewish parent, grandparent, or any Jewish ancestry
  • Are the Jewish member of an interfaith or interethnic couple
  • Are considering the use of donor eggs, sperm, or the donor is Jewish
  • Are considering becoming pregnant

1 in 2 people of Jewish descent is at risk of being a carrier of an inherited Jewish genetic disease

1 in 4 chances that if both parents are carriers for the same gene mutation, their child will be affected by the genetic disease

1 in 100 chances of both parents being a carrier for the same disease

It IS possible for patients who are carriers of these genetic diseases to have their own healthy children through IVF or PGD. Financial assistance to support a couple’s reproductive options is available through community organizations.

Einsetein's Prevention of Jewish Genetic Diseases staff recommends screening for more than 280 diseases in the pan-ethnic panel which includes the extended Jewish panel of 101 Jewish genetic diseases. Because we want to ensure that each patient and couple receive proper education and the most appropriate testing, we require pre-screening counseling. Patients and couples are also offered post-screening counseling.

Patients are offered approved virtual genetic counseling and mobile phlebotomy, or saliva kit which has been in place since 2018. The patient’s medical provider will need to be the ordering provider. Genomic lab representatives work with healthcare providers to complete the appropriate paperwork. The ordering provider acts as a referring provider and does not take on the responsibility of interpreting results. Although the ordering provider will receive a copy of the results when the genetic counselor receives the results, the genetic counselor will review the results with the patient and answer questions or make appropriate referrals. If desired, referrals can be done in consultation with the patient’s personal physician.

Einstein works with genomic labs and insurance providers to give the patient the best possible price. Genomic lab staff review details about payment plans for balances not covered by insurance. Genetic counselors guide patients and help navigate the process. Finances are not be a barrier to screening, and patients are encouraged to contact EVC staff it they have concerns about their ability to pay for tests.

Patients are encouraged to share their results with their healthcare providers. Depending upon when they were screened, patients who were previously screened for Jewish genetic diseases should be informed that it may be beneficial to learn about new diseases added to the panel before each pregnancy.

Screening is safe, affordable, and accessible.

For more information about partnering with a genominc lab for patient counseling and screening, contact Einstein's staff: 1.800.EINSTEIN | preventJGD@jefferson.edu.

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