Journal article

Genomic newborn screening: public health policy considerations and recommendations.

Jan M Friedman, Martina C Cornel, Aaron J Goldenberg, Karla J Lister, Karine Sénécal, Danya F Vears, undefined Global Alliance for Genomics and Health Regulatory and Ethics Working Group Paediatric Task Team

BMC Medical Genomics | Published : 2017


BACKGROUND: The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today. METHODS: The Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers. RESULTS: Before genome-wide sequencing can be implemented in newborn screening programs, its clinical ..

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University of Melbourne Researchers