In celebration of both the 200 th anniversary of the birth of the “father of modern genetics”, Gregor Mendel, and the 60 th anniversary of the beginning of newborn screening in the United States, Dr. Amy Brower and Dr. Kee Chan from the American College of Medical Genetics and Genomics (ACMG) led a special issue, “Newborn Screening Research” published in the American Journal of Medical Genetics ( AJMG ) Part C, Seminars in Medical Genetics (Volume 190, Issue 2). Dr. Mendel’s body of work coupled with six decades of population-based, neonatal screening have resulted in the use of genetics to create a multi-component, multi-stakeholder system of screening, diagnosis, and care for the ~4 million newborns born each year in the U.S. Newborn screening (NBS) has saved countless lives through early identification, treatment, and, in most cases, lifelong management.
The newborn screening community includes various stakeholders: researchers, healthcare professionals, families, advocacy groups, and state newborn screening programs working together to use genetics and genomics to save and improve lives. Dr. Brower and Dr. Chan conceived of this Special Issue to showcase innovation across these groups and provide a compendium of conversations and collaborations facilitated by the Newborn Screening Translational Research Network (NBSTRN). Dr. Brower, Co-Principal of the NBSTRN, states “We are delighted to announce this Special Issue to mark fifteen years of NBSTRN. The contributions from leaders across the NBS community showcase the important ways the NBSTRN has facilitated research and accelerated discoveries of novel technologies to screen, diagnose, and treat newborns.” Dr. Chan, Scientific Strategy Manager at ACMG, adds, “We welcome the opportunity to compile stories of discovery and advocacy from across our nation.”
The articles included this special issue include:
National Institute of Health (NIH)
Families and Advocacy Groups
NBS Pilot Studies
Long-Term Follow-Up (LTFU)
NBS Expansion
About the Newborn Screening Translational Research Network (NBSTRN):
The Hunter Kelly Newborn Screening Program at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) supports research in NBS. A key component of these efforts is the Newborn Screening Translational Research Network (NBSTRN), led for 14 years by the American College of Medical Genetics and Genomics (ACMG). NBSTRN accelerates effort to advance NBS by creating a research infrastructure that fosters collaborations and information sharing across the NBS community. Over the last decade, NBSTRN has developed data tools to support several landmark research projects. NBSTRN data tools are designed to help plan research studies, facilitate efforts, accelerate discoveries, and foster collaborations with key stakeholders and partners. NBSTRN has focused their effort in creating tools, databases, forum, and resources to help advance NBS research, which are available at www.nbstrn.org .
About the American College of Medical Genetics and Genomics (ACMG):
Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics, and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for nearly 2,500 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80 percent of whom are board certified in the medical genetics specialties. ACMG’s mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. www.acmg.net
American Journal of Medical Genetics Part C Seminars in Medical Genetics
10-Oct-2022