Home Testing for Jewish Genetic Conditions

In the U.S., it’s estimated that about 1 in 4 Ashkenazic Jews is a carrier for genetic diseases more common in that population. Carriers typically have no symptoms of the disease and unless they undergo genetic testing, may remain unaware of their carrier status – this despite a 25% risk of producing offspring with the actual disease if their mate is also a carrier. When considering starting a family, most Jewish couples know that Tay-Sachs disease commonly runs among Ashkenazic Jews and they will often get tested. But what about testing for other genetic diseases, such as Cystic Fibrosis or Spinal Muscular Atrophy, which are also more commonly found in those of Jewish descent?

Despite also being a public health concern, until recently, there has been no readily accessible resource providing testing information for various Jewish genetic conditions. This is no longer the case. An effort by an Atlanta based non-profit group JScreen, in collaboration with Emory University School of Medicine, has taken on the task of making it much simpler for anyone of a Jewish genetic background to have a saliva home-test prior to starting a family. JScreen will also provide phone counseling to the couple regarding available options. Where results are more involved, JScreen will suggest a consultation with a local genetic counselor.

Participants are mailed a “spit kit” directly to their home. The saliva sample is returned to a certified lab in a pre-paid envelope and results are ready in a few short weeks. An analysis for more than 85 diseases is done, 40 of which are common in people with Jewish ancestry and over 45 of which are common in the general population. JScreen is currently available in the U.S. and its cost is often covered by commercial medical insurance policies as well as Obamacare plans purchased on government exchanges.

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JScreen Kit for screening Jewish genetic disorders

JScreen claims that depending on the medical insurance policy, the maximum out of pocket costs would be $99, even if the insurance plan does not cover genetic testing or has a high deductible. For those who have no health insurance or have Medicare or Medicaid coverage, the current cost for the test is $999. Couples who need help paying for the test, are required to fill out a financial application for assistance determination. JScreen’s Project Coordinator, Rachael Gates, says that due to the generosity of donors, they’re generally able to subsidize balances of over $99 that insurance does not pay. In addition, they have set up a gift certificate program called JGifts which allows friends or family members to offset the cost of testing for aloved one.

While saliva genetic testing can accurately detect up to 99% of carriers for some conditions, they typically average 94% accuracy, which is comparable to blood testing. Anyone over age 18
with at least one Jewish grandparent and planning on having children, should request a genetic screening kit by going to their website, www.JScreen.org. They are also encouraged to view a brief video explaining the screening process as well as sign a consent form. The test request is normally coordinated with a physician. Test results are sent to the couple in approximately four weeks and a followup consultation with a genetic counselor is arranged to review results.

Jacob Klausner


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