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Paula Kashtan

Genetic Testing Basics

None of my relatives has a rare disease that I know of — should I still get genetic testing?

Knowledge is power, forewarned is forearmed... all those clichés apply to pre-conception genetic testing. Even if you have no obvious inherited illnesses in your family, there could be things you’re not considering. For instance, your racial profile alone can put you at elevated  risk of having a baby with certain illnesses. For example, Caucasian babies have a 1 in 3000 chance of being born with cystic fibrosis and African Americans babies have a 1 in 400 chance of having sickle cell anemia.

A genetic counselor will analyze your ethnic background and do a complete review of your and your mate's family trees. Based on this, she'll recommend one or more blood tests to will screen for the genes and genetic mutations that increase your odds of conceiving a child with an inherited disease. In the unlikely event that your results show you do have an above average risk of having a child with a genetic disorder, you’ll be able to educate yourself about what it means well in advance of having to make any big decisions. And if the tests come back negative, you’ll have greater peace of mind once you get pregnant.