Format

Send to

Choose Destination
Pediatrics. 2017 Feb;139(2). pii: e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.

Newborn Sequencing in Genomic Medicine and Public Health.

Author information

1
Departments of Genetics and jonathan_berg@med.unc.edu.
2
Divisions of Newborn Medicine and.
3
Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
4
RTI International, Research Triangle Park, North Carolina.
5
University of California, Berkeley, California.
6
American College of Medical Genetics and Genomics, Bethesda, Maryland.
7
Rady Children's Institute for Genomic Medicine, San Diego, California.
8
Laboratory for Molecular Medicine.
9
Chicago School of Public Health, University of Illinois, Chicago, Illinois.
10
Institute for Human Genetics.
11
Genetic Disease Screening Program, California Department of Public Health, Sacramento, California.
12
Department of Pediatrics and Division of Neonatology, Oregon Health & Science University, Portland, Oregon.
13
Division of Genetics, and.
14
Institute for Health and Aging.
15
National Human Genome Research Institute and.
16
Department of Anthropology, History, and Social Medicine.
17
Cardiovascular Research Institute, and Department of Dermatology.
18
Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
19
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas; and.
20
Departments of Genetics and.
21
University of Washington, Seattle, Washington.
22
Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
23
Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina.
24
Department of Pediatrics, University of California, San Francisco, California.
25
Department of Pediatrics, Benioff Children's Hospital, and.
26
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland.

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.

PMID:
28096516
PMCID:
PMC5260149
DOI:
10.1542/peds.2016-2252
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for HighWire Icon for PubMed Central
Loading ...
Support Center