Using whole genome sequencing to screen healthy infants for genetic diseases
Official title: Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
Funded at Brigham and Women's Hospital · NIH-10865032 · Data updated 2026-11-12
This study is looking at whether whole genome sequencing can help find genetic risks for diseases in healthy newborns, so families can better understand their baby's health and take steps to prevent problems down the line.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | July 1, 2021 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $1,237,762 |
| NIH project number | 5U01TR003201-04 |
| Project ID | NIH-10865032 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are healthy infants aged 0-4 weeks, particularly those from diverse ethnic backgrounds.
✕Less likely to help
Patients who are not newborns or those with known genetic disorders may not benefit from this research.
What this research studies
This research investigates the use of whole genome sequencing (GS) as a screening tool for identifying genetic predispositions to diseases in healthy infants. By enrolling a diverse cohort of newborns, the study aims to assess the clinical utility of GS and its impact on early disease prevention. Families will be randomized into two groups: one receiving standard family history assessments and the other receiving both family history and genomic sequencing. The study will analyze the results to determine the effectiveness of GS in uncovering genetic risks and its implications for healthcare.
Why it matters
Potential benefit: If successful, this research could lead to early identification and management of genetic diseases in infants, potentially improving long-term health outcomes.
How similar studies have gone: Previous studies, such as the BabySeq Project, have shown promising results in identifying genetic risks through genomic sequencing in newborns.
Where this research is happening
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Green, Robert C. — Brigham and Women's Hospital
- Study coordinator: Green, Robert C.
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.