Genomic Sequencing for Childhood Risk and Newborn Illness

Summary

The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study.

The investigators will enroll 240 healthy infants and their parents from the Brigham and Women's Hospital (BWH) Well Newborn Nursery and 240 sick infants and their parents at Boston Children's Hospital (BCH) or the BWH Neonatal Intensive Care Unit (NICU). A small blood sample will be collected from each infant and genome sequencing may be performed. Six weeks later, results are returned and explained. Over 12 months the investigators are studying the experiences of parents and pediatricians of infants who receive sequencing to help understand how best to use genomics in pediatric care.

Conditions

• Hereditary Disease
• Genetic Predisposition to Disease

Interventions

GENETIC

Genomic sequencing

Both sick and healthy infants randomized to receive genomic sequencing will receive a 'Genomic Newborn Sequencing Report' (GNSR) which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset disease.

OTHER

Family history report

Participants from all arms of the study will have a family history taken by a study genetic counselor. Information collected through the family history will be summarized in a family history report that will be reviewed with all participants.

Sponsors & Collaborators

• Boston Children's Hospital

  collaborator OTHER

• Baylor College of Medicine

  collaborator OTHER

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  collaborator NIH

• National Human Genome Research Institute (NHGRI)

  collaborator NIH

• Massachusetts General Hospital

  collaborator OTHER

• Brigham and Women's Hospital

  lead OTHER

Principal Investigators

• Robert C. Green, MD, MPH · Brigham and Women's Hospital

• Alan Beggs, PhD · Boston Children's Hospital

Study Design

Allocation

RANDOMIZED

Purpose

OTHER

Masking

SINGLE

Model

PARALLEL

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2015-05-31

Primary Completion

2020-04-30

Completion

2021-08-05

Countries

• United States

Study Locations