What is the NBSTRN?
The 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), National Institutes of Health (NIH). The goal of the NBSTRN is to facilitate research to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that provides the research community access to robust newborn screening resources.
Central to our work is:
Development of a comprehensive research infrastructure that includes:
- Links to patient registries and newborn screening related information (Related Links)
- Virtual Repository of Dried Blood Spots (VRDBS)
- Information about the rules, regulations, and requirements related to NBS and research (State Profiles)
- Guidance regarding some of the ethical and legal issues related to NBS research (Investigator FAQs)
- Longitudinal Pediatric Data Resource (LPDR)
- Clinical Laboratory Performance Repository (CLPR)
What is the role of the American College of Medical Genetics and Genomics in the NBSTRN?
For several years, the American College of Medical Genetics and Genomics (ACMG) has been working towards the development of a system through which national collaborative research into rare genetic diseases could be pursued. The NCI-funded national cancer cooperative study groups were formed for many of the same reasons (many rare diseases and disease subtypes requiring infrastructure that is too expensive to be replicated for every disease) that such programs are needed for genetic diseases.
In October 2008, the ACMG was awarded the 5-year contract by the NICHD to develop the National Coordinating Center for this network. Then in September 2013, the ACMG was renewed for another 5 years of maintaining the Newborn Screening Translational Research Network.