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BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1.

The BabySeq project: implementing genomic sequencing in newborns.

Author information

1
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. ingrid.holm@childrens.harvard.edu.
2
Department of Pediatrics, Harvard Medical School, Boston, MA, USA. ingrid.holm@childrens.harvard.edu.
3
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
4
Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
5
Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.
6
Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
7
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
8
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
9
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
10
Harvard Medical School, Boston, MA, USA.
11
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
12
Department of Psychological, Health and Learning Sciences, University of Houston College of Education, Houston, TX, USA.
13
Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, MA, USA.
14
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
15
The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
16
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. Beggs@enders.tch.harvard.edu.
17
Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Beggs@enders.tch.harvard.edu.

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.

KEYWORDS:

Ethical, legal, social implications; Methods; Newborn screening; Newborn sequencing; Randomized trial; Whole exome sequencing

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