Screening healthy infants using whole genome sequencing
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants (1U01TR003201-01A1)
This study is testing whether using whole genome sequencing can help find genetic risks for diseases in healthy infants and how it affects their care.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 500 (estimated) |
| Ages | 0 Months to 12 Months |
| Sex | All |
| Sponsor | Brigham and Women's Hospital Academic / other |
| Locations | 4 sites (Birmingham, Alabama and 3 other locations) |
| Trial ID | NCT05161169 on ClinicalTrials.gov |
What this trial studies
This research explores the implementation of whole genome sequencing as a screening tool for healthy infants to identify genetic predispositions to diseases. The study will enroll 500 diverse infants from Boston, New York City, and Birmingham, collecting small blood samples for genomic analysis. Participants will be randomized to receive either a family history report or a report plus genome sequencing, with results shared with parents and pediatricians. The study aims to evaluate the medical, behavioral, and economic impacts of genomic sequencing in routine pediatric care.
Who should consider this trial
Good fit: Ideal candidates are healthy infants aged 0-12 months who are receiving well-baby care at participating sites and whose parents are willing to engage in the study.
Not a fit: Patients who have previously undergone exome or genome sequencing or those whose parents are unwilling to include genomic reports in their medical records may not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could lead to early identification of genetic risks, allowing for proactive healthcare interventions.
How similar studies have performed: Other studies have shown promise in using genomic sequencing for early disease detection, but this specific implementation in diverse populations is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: Infant participants * 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: * Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician * Any infant in which clinical considerations preclude collecting blood via heel stick
Where this trial is running
Birmingham, Alabama and 3 other locations
- University of Alabama at Birmingham — Birmingham, Alabama, United States (Recruiting)
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
- Beaumont - Corewell Health East — Royal Oak, Michigan, United States (Recruiting)
- Icahn School of Medicine at Mount Sinai — New York, New York, United States (Recruiting)
Study contacts
- Principal investigator: Robert C. Green, MD, MPH — Brigham and Women's Hospital
- Study coordinator: Bethany Zettler, MS, CGC
- Email: bzettler@bwh.harvard.edu
- Phone: (617) 264-5884
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.