Genetic Testing

 In Pregnancy, Prevention

You’re planning on getting pregnant.  Or, you know eventually you will want to get pregnant.  You’re being proactive, and have made an appointment to talk with your Ob/Gyn about what you need to know (a.k.a. “Preconception Counseling”).  At some point during that visit, he/she asks you “Have you ever been tested for genetic diseases?”  Your first thoughts – “Why? Do I look sick?” or “Nobody in my family has any genetic diseases, so why should I need to be tested?”

“Carriers” of a genetic disorder are people who do not have the disease, but they do carry a gene for it. Two carrier parents can pass on the gene to their baby, and give that baby the disease.  More and more genetic disorders can now be tested in potential parents, and the likelihood that their baby will be affected can be calculated, before pregnancy even occurs.  This is known as “Genetic Carrier Screening”.

So, who needs to be screened? Several genetic disorders are more common in people of certain ancestries.  A few of these associations are:

  • Sickle Cell Disease – a blood disorder more common in African-Americans
  • Thalassemia – a blood disorder which is more common in those of Mediterranean, African and Far East Asian descent
  • Tay-Sachs and several other disorders – more common in those of Eastern European (Askenazi) Jewish descent.

This is not a complete list – there are other disorders common in certain populations, as well as disorders that may run in your family, which may be tested.

Even though some tests are considered “elective screening”, insurance often will cover all or part of the cost.  For those whose insurance does not cover it, or who cannot afford whatever portion the insurance doesn’t cover, several organizations are trying to help.  Two such organizations, specifically offering carrier screening for Jewish genetic diseases, are the Victor Center for the Prevention of Jewish Genetic Diseases and the Mathew Forbes Romer Foundation (MFRF).  The Victor center and MFRF are both sponsoring a Jewish Genetic Diseases Educational and Screening Fair on Sunday, December 5, 2010 at the David Posnack Jewish Community Center in Davie, FL (5850 South Pine Island Rd, Davie, FL).  To register, visit www.victorcenters.org/screenings or www.mfrfoundation.org and select the December 5 South Florida event link.  Other screening events may exist in your area.  Alternatively, testing may also be offered by your physician.

Knowing your risk for having a baby with a genetic disorder is powerful information which can help you to make appropriate decisions about pregnancy and prenatal care.  The best time to get tested is before you are pregnant.  And all it takes is a simple blood test.  So, make an appointment now to speak with your Ob/Gyn about Genetic Carrier Screening.

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