In 2023, the newborn screening (NBS) community of researchers, healthcare professionals, parents, families, advocates, and state newborn screening programs are celebrating the 60th anniversary of NBS. On May 18-19, 2023, the Newborn Screening Translational Research Network (NBSTRN) is marking this significant milestone with a two-day virtual meeting that will showcase the important role of advocacy and research in NBS. In 1963 Dr. Robert Guthrie’s discovery of a biomarker for phenylketonuria (PKU) that could be detected in a newborn’s blood ignited six decades of ground-breaking investigations by researchers have delivered new screening, diagnostic technologies and therapies that have expanded NBS to over 80 conditions. Advocacy from parents, families, and communities have collectively accelerated this expansion of NBS and continues to highlight important areas where the NBS community can work to ensure the timely diagnosis, treatment, and lifelong management of newborns identified with a condition through NBS.
2023 also marks the 15th year of ACMG leading the NBSTRN. Since 2008 the NBSTRN has facilitated ground-breaking research in NBS and facilitated the expansion of NBS and the translation of research into clinical practice and public health. The NBSTRN team at ACMG has a mission to facilitate the discovery and validation of novel technologies to screen and diagnose disease, pilot new technologies and treatments, describe the ethical, legal, and social implications of NBS research, and collect longitudinal health and genomic data. By joining the NBSTRN network, the ACMG community can help build new connections and strengthen partnerships across government, academia, clinical care, public health, and industry; support collection, analysis, storage, and sharing of phenotypic and genomic data; guide newborn screening research studies and pilot studies; and support the validation of new technologies and treatments for newborn screening.