The AJMG SEQUENCE: Decoding news and trends for the medical genetics community

T he National Institutes of Health (NIH) has commissioned the American College of Medical Genetics (ACMG) to establish a research network that will limit variability in states' screening of newborns for rare-and often geneticdiseases and centers' treatment of these disorders.The $13.5 million, 5year contract tasks ACMG with establishing the Newborn Screening Translational Research Network Coordinating Center (NBSTRNCC).The center will help researchers evaluate the growing numbers of screening tests being considered for state newborn screening panels, diagnostic tests, and treatment for the rare diseases they identify [ACMG, 2008]."This contract will help ensure that states have the best information about screening tests and encourage more uniform screening programs and consistent treatment procedures across the US," says James Hanson, MD, director of the National Institute of Child Health and Human Development.A federal law passed in April 2008 requires the NIH to coordinate and expand research in newborn screening.Specifically, the law directs the NIH to identify, develop, and test the most promising technologies that might improve existing screening tests or identify additional disorders.The NIH must also fund research on disorders with screening tests but no proven treatments [Families of SMA]. Disparate State Screening PoliciesThe March of Dimes recommends that states require easy and inexpensive tests for 29 treatable core conditions (see "Newborn Screening," at right),