Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
NCT ID: NCT05161169
Last Updated: 2025-11-12
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
NA
500 participants
INTERVENTIONAL
2022-12-21
2025-06-30
Brief Summary
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Detailed Description
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Investigators will enroll a cohort of 500 healthy, ethnically and racially diverse infants from Boston, Massachusetts; New York City, New York; and Birmingham, Alabama, with planned expansion to other U.S. cities and recruitment sites. As part of this study, a stakeholder board comprised of diverse community members will provide early and regular feedback throughout the study on anticipated and ongoing community reaction to the work with sensitivity to historical injustices and cultural diversity
Primary care pediatricians from each recruitment site will be enrolled for a brief genomics education curriculum. Only infants whose healthcare providers have joined the study will be enrolled.
A small blood sample will be obtained from each enrolled infant. Participants will randomized (1:1) to receive either a family history report or a family history report plus whole genome sequencing.
Genome sequencing data will be analyzed for pathogenic and likely pathogenic variants in genes associated with childhood-onset disease risks, as well as highly actionable adult-onset disease risks. If infants have a dominant risk identified, parents may choose to be screened as part of the study.
The study team will disclose the infant's randomization status and study results during a consultation with each family, and results will be sent to the infant's pediatrician.
Parents will be surveyed at three time points over the 12 months after enrollment: baseline, immediately post-disclosure (approximately 3 months after enrollment), and 6 months post-disclosure. Surveys will assess psychosocial impacts of newborn sequencing.
Chart reviews will be performed to assess the medical outcomes and healthcare utilization costs of newborn genome sequencing.
Conditions
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Keywords
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Study Design
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RANDOMIZED
PARALLEL
SCREENING
DOUBLE
Study Groups
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Sequencing cohort
Infants receive genome sequencing with analysis of approximately 1000 genes associated with childhood-onset and highly actionable adult-onset disease risks. Pathogenic and likely pathogenic variants are reported to the child's parents and pediatrician. Participants also receive a detailed family history report and standard well-child care.
Genome Sequencing
20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis.
Control cohort
Infants receive a detailed family history report plus standard well-child care.
No interventions assigned to this group
Interventions
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Genome Sequencing
20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis.
Eligibility Criteria
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Inclusion Criteria
* Has not previously had exome or genome sequencing
* Age 0-12 months
* Seen for well-baby pediatric care at a recruiting site
* Primary healthcare provider completed the genomics education program
* At least one parent or guardian able to participate in the study
Parent participants
* Biological parent or legal guardian of an infant participating in the study
* 18 years of age or older
* Unimpaired decision-making capacity
* English or Spanish speaking
* Available to have genetic counseling and provide consent for testing the infant
Exclusion Criteria
* Any infant in which clinical considerations preclude collecting blood via heel stick
0 Months
12 Months
ALL
Yes
Sponsors
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Baylor College of Medicine
OTHER
Boston Children's Hospital
OTHER
Broad Institute of MIT and Harvard
OTHER
Dartmouth-Hitchcock Medical Center
OTHER
Harvard Pilgrim Health Care
OTHER
Howard University
OTHER
HudsonAlpha Institute for Biotechnology
OTHER
Massachusetts General Hospital
OTHER
Icahn School of Medicine at Mount Sinai
OTHER
University of Alabama at Birmingham
OTHER
National Center for Advancing Translational Sciences (NCATS)
NIH
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Brigham and Women's Hospital
OTHER
Responsible Party
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Robert C. Green, MD, MPH
Professor of Medicine (Genetics)
Principal Investigators
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Robert C. Green, MD, MPH
Role: PRINCIPAL_INVESTIGATOR
Brigham and Women's Hospital
Ingrid A. Holm, MD, MPH
Role: PRINCIPAL_INVESTIGATOR
Boston Children's Hospital
Locations
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University of Alabama at Birmingham
Birmingham, Alabama, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Beaumont - Corewell Health East
Royal Oak, Michigan, United States
Icahn School of Medicine at Mount Sinai
New York, New York, United States
Countries
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Provided Documents
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Document Type: Study Protocol and Statistical Analysis Plan
Other Identifiers
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The BabySeq2 Project
Identifier Type: -
Identifier Source: org_study_id