Advances in diagnostic technology and medical treatment for inherited
disorders have prompted calls to expand the number of these conditions screened
at birth. A task force commissioned by the Department of Health and Human
Services (DHHS) is recommending that all states test newborns for 29 genetic
disorders that are detectable through blood analysis.
This recommendation comes following a 3-year study by the American College
of Medical Genetics, in Bethesda, Md. The group said publication of the study’s
findings was imminent, and health officials hope that public comment will
help refine the official recommendations made by the DHHS.
Hampton T. Expanded Newborn Genetic Testing Urged. JAMA. 2004;292(19):2325-2326. doi:10.1001/jama.292.19.2325