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.
Newborn sequencing in genomic medicine and public health
Berg, J. S., Agrawal, P. B., Bailey, D. B., Beggs, A. H., Brenner, S. E., Brower, A. M., Cakici, J. A., Ceyhan-Birsoy, O., Chan, K., Chen, F., Currier, R. J., Dukhovny, D., Green, R. C., Harris-Wai, J., Holm, I. A., Iglesias, B., Joseph, G., Kingsmore, S. F., Koenig, B. A., ... Wise, A. L. (2017). Newborn sequencing in genomic medicine and public health. Pediatrics, 139(2), [20162252]. https://doi.org/10.1542/peds.2016-2252
Abstract
Publications Info
To contact an RTI author, request a report, or for additional information about publications by our experts, send us your request.
Meet the Experts
View All ExpertsRecent Publications
OCCASIONAL PAPER
The Preschool Entitlement
OCCASIONAL PAPER
Culturally informed community engagement
Article
Far-right and Jihadi terrorism within the United States
Article