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Open Access 01-12-2018 | Study protocol

The BabySeq project: implementing genomic sequencing in newborns

Authors: Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, Robert C. Green, Alan H. Beggs, The BabySeq Project Team

Published in: BMC Pediatrics | Issue 1/2018

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 medical records and surveys of parents and health care providers and include the rationale for choice of genes and variants to report; what genomic data adds to the medical management of sick and healthy babies; and the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of healthy and sick newborns.

Discussion

The BabySeq Project will provide empirical data about the risks, benefits and costs of newborn genomic sequencing and will inform policy decisions related to universal genomic screening of newborns.

Trial registration

The study is registered in ClinicalTrials.gov Identifier: NCT02422511. Registration date: 10 April 2015.

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Title: The BabySeq project: implementing genomic sequencing in newborns
Authors: Ingrid A. Holm
Pankaj B. Agrawal
Ozge Ceyhan-Birsoy
Kurt D. Christensen
Shawn Fayer
Leslie A. Frankel
Casie A. Genetti
Joel B. Krier
Rebecca C. LaMay
Harvey L. Levy
Amy L. McGuire
Richard B. Parad
Peter J. Park
Stacey Pereira
Heidi L. Rehm
Talia S. Schwartz
Susan E. Waisbren
Timothy W. Yu
Robert C. Green
Alan H. Beggs
The BabySeq Project Team
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2018
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-018-1200-1

At a glance: The STEP trials

Springer Medicine

The BabySeq project: implementing genomic sequencing in newborns

Abstract

Background

Methods

Discussion

Trial registration

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Discussion

Trial registration

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