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7 Common Misconceptions About Jewish Genetic Diseases

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To quote the opening slogan of the classic MTV show “Diary”: “You think you know, but you have no idea.” While many Jewish parents are familiar with Jewish genetic diseases, there have been amazing advances in screening over recent years. I think it’s safe to assume that we all have the same vision of raising happy and healthy children–with an emphasis on healthy. While true that sometimes there are ailments and disorders that we cannot control or change, there are also many ways–thanks to scientific advancement–that allow us to identify risks for particular disease mutations before you even begin to think about having a baby.

So what do you need to know? Here are seven genetic screening misconceptions and misnomers, along with some pretty shocking statistics. Be sure to share the love (and information) with your friends and family.

1. Each pregnancy is at an INDEPENDENT risk. If you’ve never been screened and already have one healthy child, you should get screened before planning baby number 2. That said, even if you have been screened, it’s important to make sure your disease panel is up-to-date before growing your family: A lot of diseases have been added in the past few years.

2. There are 40 Jewish genetic diseases, not just Tay-Sachs. Twenty years ago, the only disease commonly screened for via blood test was Tay-Sachs. With advances in technology, 40 diseases have been identified that occur with increased frequency in the Ashkenazi, Mizrahi, and Sephardic communities. Examples include Cystic Fibrosis, Familial Dysautonomia, and Gaucher’s Disease.

OldJScreenBox - NO Counsyl(1)3. You can now screen affordably at home using just saliva. The national non-profit initiative JScreen is a program out of Emory University that allows people from anywhere in the United States to access screening from the comfort of their own homes, with genetic counseling provided over the phone once the results are ready.

4. 80% of babies born with a devastating genetic disease have no family history of that disease. The diseases which are screened for are recessive, meaning it takes two carriers of the same disease to potentially pass it on. A healthy carrier can go generations without knowing they are a carrier of a specific disease trait. It’s not until they have a child with another healthy carrier that they know. The only way to know your carrier status is to get screened or to have an affected child.

5. Screening is essential for anyone using a donor. Individuals planning on using a sperm or egg donor should be screened themselves and make sure the donor has also been screened for the same comprehensive panel.

6. You’re Sephardic so it doesn’t affect you? Not true! There are many diseases that are specific to your country of origin. This is even true for those with Sephardic and Mizrahi ancestry. Some examples of these include Beta Thalassemia, Familial Mediterranean Fever, and Ataxia Telangiectasia. Before getting screened, make sure that the test includes the most common diseases for your background, listed here.

7. You CAN still have a healthy baby even if you and your partner are carriers. The great news is there are viable options to still have a healthy baby even if couples are both carriers for the same disease. Options include IVF with pre-implantation genetic diagnosis, using a donor sperm or egg from a non-carrier, prenatal testing, and others.

JScreen is an innovative, national genetic screening program based out of Emory University. Through online registration and saliva-based screening, JScreen is making genetic screening convenient, easy, and affordable. Testing is available for over 80 diseases, including those more common in people with Ashkenazi, Mizrahi, and Sephardic backgrounds. Complimentary genetic counseling is provided when the results are ready.

Whether a child is in your immediate future or down the road, get screened ahead of time to make the right decisions for you and your family. Finished having children? Give a JGift to offset the cost of screening for a friend or loved one.

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