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Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
Sponsor: Brigham and Women's Hospital
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 over 500 healthy infants and their parents from Boston, MA; New York City, NY; Birmingham, AL; and additional U.S. cities. 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.
Official title: Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants (1U01TR003201-01A1)
Key Details
Gender
All
Age Range
0 Months - 12 Months
Study Type
INTERVENTIONAL
Enrollment
640
Start Date
2022-12-21
Completion Date
2027-10
Last Updated
2026-10-02
Healthy Volunteers
Yes
Interventions
Genome Sequencing
20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis.
Locations (3)
University of Alabama at Birmingham
Birmingham, Alabama, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Icahn School of Medicine at Mount Sinai
New York, New York, United States