| Literature DB >> 28096516 |
Jonathan S Berg1, Pankaj B Agrawal2,3, Donald B Bailey4, Alan H Beggs3, Steven E Brenner5, Amy M Brower6, Julie A Cakici7, Ozge Ceyhan-Birsoy8, Kee Chan9, Flavia Chen10, Robert J Currier11, Dmitry Dukhovny12, Robert C Green13, Julie Harris-Wai10,14, Ingrid A Holm3, Brenda Iglesias15, Galen Joseph16, Stephen F Kingsmore7, Barbara A Koenig14, Pui-Yan Kwok10,17, John Lantos18, Steven J Leeder18, Megan A Lewis4, Amy L McGuire19, Laura V Milko20, Sean D Mooney21, Richard B Parad22, Stacey Pereira19, Joshua Petrikin18, Bradford C Powell20, Cynthia M Powell23, Jennifer M Puck24, Heidi L Rehm8, Neil Risch10, Myra Roche23, Joseph T Shieh10,25, Narayanan Veeraraghavan7, Michael S Watson6, Laurel Willig18, Timothy W Yu3, Tiina Urv26, Anastasia L Wise15.
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.Entities:
Mesh：
Year: 2017 PMID： 28096516 PMCID： PMC5260149 DOI： 10.1542/peds.2016-2252
Source DB: PubMed Journal: Pediatrics ISSN： 0031-4005 Impact factor: 7.124