Newborn screening programs currently screen more than 4 million U.S. infants per year. The intent of newborn screening is to detect potentially fatal or disabling conditions in newborns, thereby providing a window of opportunity for early treatment, often while the child is still asymptomatic. This public health program has saved countless lives through the identification of infants who are at risk for congenital disorders for which early interventions and treatments have the potential to reduce morbidity and mortality. In 2006 the American College of Medical Genetics (ACMG) developed newborn screening guidelines that recommend that all newborn infants be screened for 29 """"""""core conditions"""""""" and that 25 secondary conditions identified during the core evaluations be reported. These recommendations have been accepted by the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (authorized by the Children's Health Act of 2000), and the Secretary of HHS. Most states now use this or very similar panels for newborn screening. There has been broad acceptance of these screening guidelines by state screening laboratories, and interest in adding new tests that have been appropriately vetted to the recommended panel. In addition, under the Newborn Screening Saves Lives Act of 2007, the Hunter Kelly Newborn Screening Research Program within NICHD is authorized to carry out, coordinate, and expand research in newborn screening. Currently, policies related to newborn screening are determined through analysis of the severity and incidence of each condition under consideration, the specificity and sensitivity of the screening test, the natural history of the disorder, and the efficacy, safety, and effectiveness of treatments available for the disorder. Newborn Screening Translational Research Network (NBSTRN) websiteThe Newborn Screening Translational Research Network (NBSTRN) is a resource for investigators engaged in newborn screening related research. As part of the Newborn Screening Saves Lives Act mandated by Congress, the Hunter Kelly Newborn Screening Program was established, with the NBSTRN Coordinating Center as a key component. The NBSTRN Coordinating Center is funded by a contract to the American College of Medical Genetics and Genomics (ACMG) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Intellectual and Developmental Disabilities Branch (IDDB). The primary goals of the NBSTRN are to: Enable biomedical investigators, with appropriate IRB permission and privacy protections, to access dried bloodspots and other biological specimens in a site-independent manner for research Support the needs of investigators to: Evaluate the predictive value of biomarkers through early phase clinical/epidemiological studies Facilitate the development and assessment of new methods and technologies to improve the capacity for early identification through newborn screening Identify candidate diseases for inclusion in expanded newborn screening Determine the effectiveness of treatments and long-term outcomes by means of studies involving screened and treated patients Encourage collaboration among researchers and rapid dissemination of information to promote progress and avoid fragmentation of effort Develop policies and procedures that support privacy and confidentiality of patient-related information as well as appropriate rules by which to conduct the research The NBSTRN works collaboratively with other organizations involved in newborn screening related activities. These groups include both federal programs (the Health Resources and Services Administration, the National Library of Medicine, and the Centers for Disease Control and Prevention) and organizations such as the Association for Public Health Laboratories, the Genetic Alliance, and the National Newborn Screening and Genetics Resource Center.
