Approval for newborn genetics test has S.C. link

jholleman@thestate.comJanuary 23, 2014 

South Carolina-based Greenwood Genetic Center played a major role in gaining regulatory approval for an important breakthrough in genetic testing for developmental and intellectual concerns in newborns.

The U.S. Food and Drug Administration last week gave medical technology company Affymetrix Inc. approval to market a blood test known as CytoScan Dx Assay. The information from those tests can help quickly diagnose genetic conditions such as Down Syndrome and DiGeorge Syndrome.

In some cases, those diagnoses now take months or years, thus delaying appropriate care for the conditions. The National Institutes of Health estimates 2 percent to 3 percent of children in the U.S. have some sort of intellectual disability, often genetic.

The approval for the first-of-its-kind test is expected to be a major boost for Santa Clara, Calif.-based Affymetrix. It is a feather in the cap for Greenwood Genetic Center, which played a role in the study that gathered data for the FDA approval process. Most of the 960 samples used to prove the efficiency of the test were provided by Greenwood Genetic Center.

“Participating in this clearance process is a wonderful opportunity for GGC to play an important role in guaranteeing the high quality of the testing we offer,” said Barbara DuPont, senior director of the company’s Cytogentics Laboratory.

Greenwood Genetic Center, a nonprofit that provides clinical genetic services, is based in Greenwood and has offices in Columbia, Charleston, Florence and Greenville.

The CytoScan examines a patient’s entire genome to search for the cause of developmental and intellectual disabilities. The studies done as part of the regulatory process indicate the full genome tests offer improvements over standard chromosome testing.

The CytoScan was not approved for pre-natal use or for screening for genetic aberrations that occur later in life, such as cancer. But CytoScan screening of newborns can confirm physicians’ suspicions about genetic disorders.

“When there’s something about the child that strikes us as unusual or pointing to a potential genetic disease, that’s when we would use this testing,” Dr. Annemarie Stroustrup, an assistant professor of pediatrics at Mount Sinai Hospital in New York, told The Associated Press.

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