title: Newborn Sequencing in Genomic Medicine and Public Health.
abstract: The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.
authors.affiliation: Departments of Genetics and jonathan_berg@med.unc.edu.
authors.forename: Jonathan S
authors.initials: JS
authors.lastname: Berg
authors.affiliation: Divisions of Newborn Medicine and.|Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: Pankaj B
authors.initials: PB
authors.lastname: Agrawal
authors.affiliation: RTI International, Research Triangle Park, North Carolina.
authors.forename: Donald B
authors.initials: DB
authors.lastname: Bailey
authors.affiliation: Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: Alan H
authors.initials: AH
authors.lastname: Beggs
authors.affiliation: University of California, Berkeley, California.
authors.forename: Steven E
authors.initials: SE
authors.lastname: Brenner
authors.affiliation: American College of Medical Genetics and Genomics, Bethesda, Maryland.
authors.forename: Amy M
authors.initials: AM
authors.lastname: Brower
authors.affiliation: Rady Children's Institute for Genomic Medicine, San Diego, California.
authors.forename: Julie A
authors.initials: JA
authors.lastname: Cakici
authors.affiliation: Laboratory for Molecular Medicine.
authors.forename: Ozge
authors.initials: O
authors.lastname: Ceyhan-Birsoy
authors.affiliation: Chicago School of Public Health, University of Illinois, Chicago, Illinois.
authors.forename: Kee
authors.initials: K
authors.lastname: Chan
authors.affiliation: Institute for Human Genetics.
authors.forename: Flavia
authors.initials: F
authors.lastname: Chen
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Sacramento, California.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Currier
authors.affiliation: Department of Pediatrics and Division of Neonatology, Oregon Health & Science University, Portland, Oregon.
authors.forename: Dmitry
authors.initials: D
authors.lastname: Dukhovny
authors.affiliation: Division of Genetics, and.
authors.forename: Robert C
authors.initials: RC
authors.lastname: Green
authors.affiliation: Institute for Human Genetics.|Institute for Health and Aging.
authors.forename: Julie
authors.initials: J
authors.lastname: Harris-Wai
authors.affiliation: Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: Ingrid A
authors.initials: IA
authors.lastname: Holm
authors.affiliation: National Human Genome Research Institute and.
authors.forename: Brenda
authors.initials: B
authors.lastname: Iglesias
authors.affiliation: Department of Anthropology, History, and Social Medicine.
authors.forename: Galen
authors.initials: G
authors.lastname: Joseph
authors.affiliation: Rady Children's Institute for Genomic Medicine, San Diego, California.
authors.forename: Stephen F
authors.initials: SF
authors.lastname: Kingsmore
authors.affiliation: Institute for Health and Aging.
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Koenig
authors.affiliation: Institute for Human Genetics.|Cardiovascular Research Institute, and Department of Dermatology.
authors.forename: Pui-Yan
authors.initials: PY
authors.lastname: Kwok
authors.affiliation: Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
authors.forename: John
authors.initials: J
authors.lastname: Lantos
authors.affiliation: Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Leeder
authors.affiliation: RTI International, Research Triangle Park, North Carolina.
authors.forename: Megan A
authors.initials: MA
authors.lastname: Lewis
authors.affiliation: Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas; and.
authors.forename: Amy L
authors.initials: AL
authors.lastname: McGuire
authors.affiliation: Departments of Genetics and.
authors.forename: Laura V
authors.initials: LV
authors.lastname: Milko
authors.affiliation: University of Washington, Seattle, Washington.
authors.forename: Sean D
authors.initials: SD
authors.lastname: Mooney
authors.affiliation: Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: Richard B
authors.initials: RB
authors.lastname: Parad
authors.affiliation: Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas; and.
authors.forename: Stacey
authors.initials: S
authors.lastname: Pereira
authors.affiliation: Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
authors.forename: Joshua
authors.initials: J
authors.lastname: Petrikin
authors.affiliation: Departments of Genetics and.
authors.forename: Bradford C
authors.initials: BC
authors.lastname: Powell
authors.affiliation: Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina.
authors.forename: Cynthia M
authors.initials: CM
authors.lastname: Powell
authors.affiliation: Department of Pediatrics, University of California, San Francisco, California.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
authors.affiliation: Laboratory for Molecular Medicine.
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Rehm
authors.affiliation: Institute for Human Genetics.
authors.forename: Neil
authors.initials: N
authors.lastname: Risch
authors.affiliation: Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina.
authors.forename: Myra
authors.initials: M
authors.lastname: Roche
authors.affiliation: Institute for Human Genetics.|Department of Pediatrics, Benioff Children's Hospital, and.
authors.forename: Joseph T
authors.initials: JT
authors.lastname: Shieh
authors.affiliation: Rady Children's Institute for Genomic Medicine, San Diego, California.
authors.forename: Narayanan
authors.initials: N
authors.lastname: Veeraraghavan
authors.affiliation: American College of Medical Genetics and Genomics, Bethesda, Maryland.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Watson
authors.affiliation: Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
authors.forename: Laurel
authors.initials: L
authors.lastname: Willig
authors.affiliation: Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: Timothy W
authors.initials: TW
authors.lastname: Yu
authors.affiliation: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland.
authors.forename: Tiina
authors.initials: T
authors.lastname: Urv
authors.affiliation: National Human Genome Research Institute and.
authors.forename: Anastasia L
authors.initials: AL
authors.lastname: Wise
mesh_terms: D059472:Exome / Q000235:genetics; D006580:Genetic Carrier Screening; D036281:Genetic Research; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D056914:Genomic Structural Variation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D015997:Neonatal Screening; D011237:Predictive Value of Tests; D011446:Prospective Studies; D011634:Public Health; D017422:Sequence Analysis, DNA; D014481:United States