title: Genomic newborn screening: public health policy considerations and recommendations.
abstract: 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.
  
  
  
  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.
  
  
  
  Before genome-wide sequencing can be implemented in newborn screening programs, its clinical utility and cost-effectiveness must be demonstrated, and the ability to distinguish disease-causing and benign variants of all genes screened must be established. In addition, each jurisdiction needs to resolve ethical and policy issues regarding the disclosure of incidental or secondary findings to families and ownership, appropriate storage and sharing of genomic data.
  
  
  
  The best interests of children should be the basis for all decisions regarding the implementation of genomic newborn screening.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. jan.friedman@ubc.ca.|Child & Family Research Institute, Vancouver, Canada. jan.friedman@ubc.ca.
authors.forename: Jan M
authors.initials: JM
authors.lastname: Friedman
authors.affiliation: Section Clinical Genetics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, Holland.|EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, Holland.
authors.forename: Martina C
authors.initials: MC
authors.lastname: Cornel
authors.affiliation: The Center for Genetic Research Ethics and Law, Department of Bioethics, Case Western Reserve University, Cleveland, OH, USA.
authors.forename: Aaron J
authors.initials: AJ
authors.lastname: Goldenberg
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
authors.forename: Karla J
authors.initials: KJ
authors.lastname: Lister
authors.affiliation: Centre of Genomics and Policy, Department of Human Genetics, McGill University, Montreal, Canada.
authors.forename: Karine
authors.initials: K
authors.lastname: Sénécal
authors.affiliation: Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.
authors.forename: Danya F
authors.initials: DF
authors.lastname: Vears
mesh_terms: D001800:Blood Specimen Collection; D059472:Exome / Q000235:genetics; D005820:Genetic Testing / Q000941:ethics / Q000331:legislation & jurisprudence; D023281:Genomics; D006291:Health Policy; D006801:Humans; D033162:Incidental Findings; D007231:Infant, Newborn; D016247:Information Storage and Retrieval; D009154:Mutation; D033282:Parental Consent; D011634:Public Health
keywords: Ethics; Exome Sequencing; Newborn Screening; Public Health Genetics; Public Policy; Whole Genome Sequencing