The BabySeq project: implementing genomic sequencing in newborns.

ABSTRACT:

Background

The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The "BabySeq Project" is a randomized trial that explores the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of healthy and sick newborns.

Methods

Families of newborns are enrolled from Boston Children's Hospital and Brigham and Women's Hospital nurseries, and half are randomized to receive genomic sequencing and a report that includes monogenic disease variants, recessive carrier variants for childhood onset or actionable disorders, and pharmacogenomic variants. All families participate in a disclosure session, which includes the return of results for those in the sequencing arm. Outcomes are collected through review of medic

SUBMITTER: Holm IA 

PROVIDER: S-EPMC6038274 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature