Newborn Sequencing in Genomic Medicine and Public Health | Zendy

Jonathan S. Berg | Zendy; Pankaj B. Agrawal | Zendy; Donald B. Bailey | Zendy; Alan H. Beggs | Zendy; Steven E. Brenner | Zendy; Amy Brower | Zendy; Julie A. Cakici | Zendy; Özge Ceyhan-Birsoy | Zendy; Kee Chan | Zendy; Flavia Chen | Zendy; Robert J. Currier | Zendy; Dmitry Dukhovny | Zendy; Robert C. Green | Zendy; Julie Harris-Wai | Zendy; Ingrid A. Holm | Zendy; Brenda Iglesias | Zendy; Galen Joseph | Zendy; Stephen F. Kingsmore | Zendy; Barbara A. Koenig | Zendy; PuiYan Kwok | Zendy; John D. Lantos | Zendy; Steven J. Leeder | Zendy; Megan A. Lewis | Zendy; Amy L. McGuire | Zendy; Laura V. Milko | Zendy; Sean D. Mooney | Zendy; Richard B. Parad | Zendy; Stacey Pereira | Zendy; Joshua E. Petrikin | Zendy; Bradford C. Powell | Zendy; Cynthia M. Powell | Zendy; Jennifer M. Puck | Zendy; Heidi L. Rehm | Zendy; Neil Risch | Zendy; Myra I. Roche | Zendy; Joseph T.C. Shieh | Zendy; Narayanan Veeraraghavan | Zendy; Michael S. Watson | Zendy; Laurel K. Willig | Zendy; Timothy W. Yu | Zendy; Tiina K. Urv | Zendy; Anastasia L. Wise | Zendy

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Newborn Sequencing in Genomic Medicine and Public Health

Author(s) -

Jonathan S. Berg,

Pankaj B. Agrawal,

Donald B. Bailey,

Alan H. Beggs,

Steven E. Brenner,

Amy Brower,

Julie A. Cakici,

Özge Ceyhan-Birsoy,

Kee Chan,

Flavia Chen,

Robert J. Currier,

Dmitry Dukhovny,

Robert C. Green,

Julie Harris-Wai,

Ingrid A. Holm,

Brenda Iglesias,

Galen Joseph,

Stephen F. Kingsmore,

Barbara A. Koenig,

PuiYan Kwok,

John D. Lantos,

Steven J. Leeder,

Megan A. Lewis,

Amy L. McGuire,

Laura V. Milko,

Sean D. Mooney,

Richard B. Parad,

Stacey Pereira,

Joshua E. Petrikin,

Bradford C. Powell,

Cynthia M. Powell,

Jennifer M. Puck,

Heidi L. Rehm,

Neil Risch,

Myra I. Roche,

Joseph T.C. Shieh,

Narayanan Veeraraghavan,

Michael S. Watson,

Laurel K. Willig,

Timothy W. Yu,

Tiina K. Urv,

Anastasia L. Wise

Publication year - 2017

Publication title -

pediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.611

H-Index - 345

eISSN - 1098-4275

pISSN - 0031-4005

DOI - 10.1542/peds.2016-2252

Subject(s) - medicine , genomic sequencing , genomic medicine , dna sequencing , whole genome sequencing , genomics , personalized medicine , public health , precision medicine , newborn screening , genome , computational biology , genetics , pediatrics , biology , pathology , gene

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.

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