The New Medical Consensus: MDs Recommend Offering Testing

The American College of Medical Genetics (ACMG) has recommended that every adult of reproductive age be offered carrier testing for cystic fibrosis and spinal muscular atrophy. As members of minority groups are at even greater risk for genetic disease — whether it be sickle cell disease in African Americans, Tay-Sachs in the Jewish community, or thalassemia in Asian Americans — testing is indicated for virtually every population.

What is Carrier Testing?

Carrier testing is a way to see whether we "carry" certain mutations in our DNA that may not affect us, but can cause our children to inherit a disease. If both parents are "carriers" of the same mutation, their child has a significant chance of suffering from a serious genetic disease, like cystic fibrosis, spinal muscular atrophy (SMA), sickle cell disease, or Tay-Sachs disease.

We Are All Carriers

Approximately 10% of childhood deaths and an unknown number of stillbirths and miscarriages are caused by inherited genetic diseases. Carriers of serious genetic diseases are surprisingly common — in fact, on average, each person is estimated to be a carrier of 4 or 5 lethal recessive mutations.

Because the majority of genetic mutations are passed down quietly through the generations, more than 80% of children born with a preventable genetic illness lack a family history of that disease. As a result, the only way to know your carrier status for certain is through testing."

Learn more about genetic carrier testing from the Counsyl Web site.