image: On the left upper side is the Newborn Screening Translational Research Network (NBSTRN) logo of a foot with DNA strand in the middle to depict the usual site where a newborn's sample is taken, the foot, and the DNA strand to communicate that the conditions that are screened are genetic. Across the bottom of the page is six circles to depict aspects of the newborn screening research community of (from left to right): 1) a baby in the hospital, 2) two hands hovering over two baby feet, 3) an empty circle to symbolize the invitation of new discovery through research and use of NBSTRN, 4) closeup of a baby's face, 5) a father, mother and a newborn, and 6) the DNA code spelled out in nucleotide bases of ACT and G. view more
Credit: Cover design by BWNP Designs
In celebration of both the 200th anniversary of the birth of the “father of modern genetics”, Gregor Mendel, and the 60th 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)
- Dr. Melissa Parisi and Dr. Mollie Minear, from Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Research Program, describes NICHD efforts to foster the development of novel technologies, treatments, and interventions through the development of resources, tools, and expertise in their article “Newborn Screening Research Sponsored by the NIH: From Diagnostic Paradigms to Precision."
Families and Advocacy Groups
- Stacy Pike-Langenfeld, former Executive Director of the Legacy of Angels Foundation, describes the roles of parents, families, and advocacy groups in advancing NBS research in her article “Why Must the Debate Continue on Krabbe Disease Newborn Screening?”
- Dr. Matthew Ellinwood, from National MPS Society, provides his perspective of an advocacy group in establishing the evidence-base for NBS in their article “Newborn Screening and the Recommended Uniform Screening Panel: Optimal Submissions and Suggested Improvements based on an Advocacy Organization’s Decade-Long Experience."
- Nikki Armstrong and Dr. Norah L. Crossnohere (from The Ohio State University College of Medicine), both from Parent Project Muscular Dystrophy, describe the experiences from families and physicians on Duchenne NBS in two articles, respectively, “Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care” and “Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study."
NBS Pilot Studies
- Dr. Patricia Liane Hall, from Georgia Department of Public Health, describes efforts to improve screening for proximal urea cycle disorders (PUCD) in the State of Georgia the article “Proximal Urea Cycle Defects Are Challenging to Detect with Newborn Screening: Results of a Prospective Pilot Study Using Post-Analytical Tools."
- Dr. Kathryn Elkins, from Emory University School of Medicine, shares details on the screening, diagnosis, and treatment during a two-year pilot in their article” Georgia State Spinal Muscular Atrophy (SMA) newborn screening experience: screening assay performance and early clinical outcomes."
- Dr. Dorota Gruber, from Cohen Children's Medical Center, Northwell Health in New York, outlines an approach to the identification of female carriers and subsequent cascade testing of family members in a two-year pilot of an X-linked disorder in their article “Newborn Screening for Duchenne Muscular Dystrophy-Early Detection and Diagnostic Algorithm for Female Carriers of Duchenne Muscular Dystrophy."
Long-Term Follow-Up (LTFU)
- Sarah Viall, from NSB Program in the State of Oregon, describes a larger than expected number of cases and highlights the challenge of a missense variant in the galactosidase alpha (GLA) gene in their article “Newborn screening for Fabry Disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance."
NBS Expansion
- Melis Yilmaz, from Morsani College of Medicine, University of South Florida, reports on an effort to expand screening for Severe Combined Immune Deficiency (SCID) to include screening for Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome in their article, “Can we identify WHIM in infancy?”
- Dr. Wendy Chung, from Columbia University, outlines a framework for piloting NBS for neurodevelopmental disorders that includes the key technical, practical, and ethical consideration and challenges in their article “Newborn Screening for Neurodevelopmental Diseases: Are We There Yet?”
- Dr. Ferdinand Dhombes, from Sorbonne University in France, provides guidelines for using Human Phenotype Ontology (HPO) for prenatal phenotyping in their article “Prenatal phenotyping: a community effort to enhance the Human Phenotype Ontology."
- Dr. Stephen Kingsmore, from Rady Children's Institute for Genomic Medicine, proposes the Begin NBS which stands for BeginNGSTM (Newborn Genomic Sequencing to end the diagnostic and therapeutic odyssey) a new international, precompetitive, public-private consortium to support a self-learning healthcare delivery system for screening all newborns for hundreds of genetic diseases by rWGS, diagnostic confirmation, implementation of effective treatment, and acceleration of drug development world-wide in their article “ Beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey."
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
Journal
American Journal of Medical Genetics Part C Seminars in Medical Genetics
Article Publication Date
10-Oct-2022