Genetic testing: A rising star in preventive screening

By David Nash, MedPage Today

Although we tend to think of population-wide genetic testing as a relative newcomer, it made its debut more than half a century ago when we began to test all newborns for phenylketonuria (PKU), an inborn metabolic error that, left untreated, resulted in mental retardation.

In the 1970s, population-wide testing was initiated for two other serious, life-threatening conditions that are passed to children by their parent carriers – sickle cell disease in the African-American population and Tay-Sachs disease in the Jewish population. Serum marker screening tests were introduced as well (e.g., Down syndrome, cystic fibrosis) and offered to all pregnant women.

I can still recall hearing about one early direct-to-consumer (DTC) genetic testing campaign – a “Spit Party” that launched 23and Me – and thinking that it wouldn’t take long for these tests to become part of a routine patient workup. Today, DTC genetic testing is evolving at breakneck speed as a result of market competition, mounting consumer interest, and ongoing research into the effect of genetics on personal health; employee genetic testing is becoming a bona fide trend. Read more …



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