Newborn Sequencing in Genomic Medicine and Public Health

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.

Conflict of interest statement

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

Copyright © 2017 by the American Academy of Pediatrics.

Figures

FIGURE 1

A, Diagram of the protocol in progress at BWH and BCH, Boston, Massachusetts. Infants are recruited from the well baby nursery at BWH and from the ICUs at BCH and BWH. After a pre-enrollment session with a study genetic counselor and completion of baseline outcomes, enrolled infants are randomly assigned to receive NBS and family history or NBS, family history, and exome sequencing. Results are disclosed to the family by a study genetic counselor and physician, and postdisclosure outcomes are collected. Follow-up is performed at 3 and 10 months after disclosure. Medical, behavioral, and economic outcomes are collected throughout the study from surveys, medical record reviews, and consultation with the families. B, Diagram of the protocol in progress at NICUs at Children’s Mercy Hospital, Kansas City (CMH) and Rady Children’s Hospital, San Diego (RCHSD). Eligible patients are infants