Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

Summary

This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks. The study will enroll a diverse cohort of 500 healthy infants and their parents from Boston, MA; New York City, NY; and Birmingham, AL. A small blood sample will be collected from each infant, and whole genome sequencing will be performed in 1/2 of the cohort following a randomized controlled trial design. 3 months later, the randomization status and sequencing results will be shared with parents and pediatricians. Investigators will study the medical, behavioral, and economic outcomes of genomic sequencing to better understand how this technology can be implemented in outpatient primary care settings.

Conditions

• Genetic Predisposition to Disease
• Hereditary Diseases

Interventions

GENETIC

Genome Sequencing

20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis.

Sponsors & Collaborators

• Baylor College of Medicine

  collaborator OTHER

• Boston Children's Hospital

  collaborator OTHER

• Broad Institute of MIT and Harvard

  collaborator OTHER

• Dartmouth-Hitchcock Medical Center

  collaborator OTHER

• Harvard Pilgrim Health Care

  collaborator OTHER

• Howard University

  collaborator OTHER

• HudsonAlpha Institute for Biotechnology

  collaborator OTHER

• Massachusetts General Hospital

  collaborator OTHER

• Icahn School of Medicine at Mount Sinai

  collaborator OTHER

• University of Alabama at Birmingham

  collaborator OTHER

• National Center for Advancing Translational Sciences (NCATS)

  collaborator NIH

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

  collaborator NIH

• Brigham and Women's Hospital

  lead OTHER

Principal Investigators

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

• Ingrid A. Holm, MD, MPH · Boston Children's Hospital

Study Design

Allocation

RANDOMIZED

Purpose

SCREENING

Masking

DOUBLE

Model

PARALLEL

Eligibility

Min Age

0 Months

Max Age

12 Months

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2022-12-21

Primary Completion

2025-06-30

Completion

2025-06-30

Countries

• United States

Study Locations