Using whole genome sequencing to screen healthy infants for genetic diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
['FUNDING_U01'] · BRIGHAM AND WOMEN'S HOSPITAL · NIH-10865032
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
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BRIGHAM AND WOMEN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-10865032 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are healthy infants aged 0-4 weeks, particularly those from diverse ethnic backgrounds.
Not a fit: Patients who are not newborns or those with known genetic disorders may not benefit from this research.
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 performed: 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
BOSTON, UNITED STATES
- 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.
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 below.