More than two decades ago, dramatic efforts were begun to improve the Newborn Screening programs. With the development of new technologies, clinicians were able to begin screening for multiple disorders using a single platform. Challenges, nonetheless, still existed. One cannot characterize the full range of disease expression or discover genetic and environmental modifiers without the availability of a large study population. Since its onset, the Newborn Screening Translational Research Network (NBSTRN) has strived to eliminate these challenges by pursuing an organized, collaborative, multisite, national-global effort to achieve statistically significant and unselected patient populations. According to lead researchers, the most efficient way to enact these pursuits is to develop a core infrastructure with centralized databases and accumulated expertise to be used by any investigators working in this field. Today, NBSTRN offers a centralized platform for state based NBS programs to access information for their decision-making processes. As of 2019, NBSTRN’s information technology tools have been used in 26 research projects, 30 clinical sites in 22 states, and in multistate pilots of four conditions altogether screening over 1.2 million births. Ultimately, these efforts will enhance collaborative opportunities in NBS while distribution cost sharing and the sharing of resources across the public health system.
Author, Michele Lloyd-Puryear, MD, PhD, is a pediatrician, geneticist, and consultant to the American College of Medical Genetics and Genomics. Dr. Lloyd-Puryear has made dramatic and positive impacts on newborn screening for over two decades.
Read more about the foundation of the Newborn Screening Translational Research Network and its tools for research at:
Lloyd-Puryear M, Brower A, Berry SA, Brosco JP, Bowdish B, Watson MS. Foundation of the Newborn Screening Translational Research Network and its tools for research. Genet Med. 2019;21(6):1271-1279. doi:10.1038/s41436-018-0334-8