Newborn Sequencing in Genomic Medicine and Public Health

作者：Berg Jonathan S; Agrawal Pankaj B; Bailey Donald B Jr; Beggs Alan H; Brenner Steven E; Brower Amy M; Cakici Julie A; Ceyhan Birsoy Ozge; Chan Kee; Chen Flavia; Currier Robert J; Dukhovny Dmitry; Green Robert C; Harris Wai Julie; Holm Ingrid A; Iglesias Brenda; Joseph Galen; Kingsmore Stephen F; Koenig Barbara A; Kwok Pui Yan; Lantos John; Leeder Steven J; Lewis Megan A; McGuire Amy L; Milko Laura V; Mooney Sean D; Parad Richard B; Pereira Stacey

来源：Pediatrics, 2017, 139(2): e20162252.

DOI：10.1542/peds.2016-2252

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.

• 出版日期2017-2