Plan Ahead with Pre-Conception Gene Tests

One simple blood test can sidestep 19 genetic diseases—and for about $25 if you are insured. Now that’s money well spent.

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Hopeful parents-to-be can pass on genetic diseases based on their ancestry—and with no way of knowing it since their own health is unaffected.

“People of every ethnic group can potentially be carriers of certain diseases,” explains Adele Schneider, M.D, FACMG, Director of Clinical Genetics and Medical Director, Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center in Philadelphia. “But the carriers themselves are healthy and usually have no prior family history of the disease.”

Basically, a child can only inherit a disease if both parents carry the gene mutation for that condition, and each passes it down to the child.

Here’s the good news: Simple pre-conception blood tests can now detect carriers of certain mutations and predict a couple’s chance of conceiving children with the genetic disease.  All those thinking about starting or expanding a family should assess their odds of passing on a disease because of their genetic blueprint. Certain couples, however, may have a higher than average risk.

“We now know that one in four Jewish individuals of Central and Eastern European descent from countries such as Poland, Russia, Germany, Austria, and Lithuania, is a carrier for at least one of 19 genetic diseases.  Most of these conditions strike in childhood and have no cure; all are debilitating, and in many instances life-threatening,” says Dr. Schneider.

Through the Victor Center Screening Program, adults with health insurance who are at risk for Jewish genetic diseases can now be tested at clinics nationwide for about $25. Those with Health Savings Accounts or no health insurance may obtain further information by calling the Victor Center at 877-401-1093.

So, who should get this test?

“Through interfaith marriages and adoption, people who may not identify as Jewish or are unaware of their ancestry may have unknowingly inherited ‘Jewish’ genes and be carriers of a Jewish genetic disease,” counsels Dr. Schneider. “But individuals with one Jewish grandparent should be screened, and interfaith couples also need to be tested, with the Jewish partner being tested first.”

Learn more about pre-conception tests and counseling for genetic diseases from the National Library of Medicine.

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