8 results match your criteria: "American College of Medical Genetics and Genomics (ACMG)[Affiliation]"
Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey.
Int J Neonatal Screen
September 2024
American College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USA.
From 2008 to 2024, the Newborn Screening Translational Research Network (NBSTRN), part of the National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Program, served as a robust infrastructure to facilitate groundbreaking research in newborn screening (NBS), public health, rare disease, and genomics. Over its sixteen years, NBSTRN developed into a significant international network, supporting innovative research on novel technologies to screen, diagnose, treat, manage, and understand the natural history of more than 280 rare diseases. The NBSTRN tools and resources were used by a variety of stakeholders including researchers, clinicians, state NBS programs, parents, families, and policy makers.
View Article and Find Full Text PDFNewborn sequencing is only part of the solution for better child health.
Lancet Reg Health Am
September 2023
American College of Medical Genetics and Genomics (ACMG), Bethesda, MD, United States.
Newborn screening (NBS) aims to detect newborns with severe congenital diseases before the onset of clinical manifestations. Advancements in genomic technologies have led to proposals for the development of genomic-based NBS (G-NBS) in concert with traditional NBS. Proponents of G-NBS highlight how G-NBS could expand the number of diseases screened at birth to thousands and spur the development of new drugs and treatments for rare diseases.
View Article and Find Full Text PDFNewborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.
Int J Neonatal Screen
September 2022
American College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USA.
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot.
View Article and Find Full Text PDFPopulation-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Front Genet
July 2022
Washington University School of Medicine (Adjunct), St. Louis, MO, United States.
Article Synopsis
- Each year, 1 in 294 newborns is identified with a condition through newborn screening (NBS), which can lead to early treatment and potentially life-saving interventions.
- Advances in genomic technologies are expected to broaden the scope of NBS, but the process of expanding screening occurs slowly and inconsistently across the US.
- The NBS Expansion Study analyzed current NBS practices and identified four main factors that complicate expansion, averaging a 9.5-year delay for nationwide adoption of new conditions.
Article Synopsis
- - Each year, neonatal screening in the U.S. identifies about 1 in 220 newborns with treatable conditions, sometimes lifesaving.
- - New research focuses on creating better technologies for screening and treating more diseases, expanding the range of conditions that can be screened nationally.
- - The NICHD Hunter Kelly Newborn Screening Research Program supports this research, and the NBSTRN has been coordinated by the ACMG for fourteen years to enhance newborn screening efforts.
The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.
Int J Neonatal Screen
June 2021
American College of Medical Genetics and Genomics (ACMG), 7101 Wisconsin Avenue Suite 1101, Bethesda, MD 20814, USA.
The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn Screening Translational Research Network (NBSTRN) developed the Longitudinal Pediatric Data Resource (LPDR) to capture, store, analyze, visualize, and share genomic and phenotypic data over the lifespan of NBS identified newborns to facilitate understanding of genetic disease and to assess the impact of early identification and treatment.
View Article and Find Full Text PDFArticle Synopsis
- The Human Phenotype Ontology (HPO) was established in 2008 to standardize the description and analysis of phenotypic abnormalities in human diseases, and has become a global reference for phenotype data.
- Recent updates to the HPO include expansions in various medical fields, with improvements such as the seizure subontology aligning with international epilepsy guidelines, demonstrating their clinical validity.
- Ongoing efforts focus on harmonizing phenotypic definitions across the HPO and other ontologies, enhancing computational tools for cross-species disease research, and translating the HPO into indigenous languages for broader accessibility.