Genomic newborn screening: addressing big questions for babies and families
Official title: Critical ELSI Issues to Address in Implementing Genomic Newborn Screening
Funded at Boston Children's Hospital · NIH-11455382 · Data updated 2026-11-12
This project looks at how to responsibly use genome sequencing for newborn screening and what it means for babies, families, and care systems.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 10, 2026 |
| Project end | August 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $823,366 |
| NIH project number | 1R01HD120961-01A1 |
| Project ID | NIH-11455382 on NIH RePORTER |
Who could benefit from this research
✓Could help
Newborns and their families in the U.S. where genome sequencing-based screening could be implemented, with attention to consent and follow-up care.
✕Less likely to help
Families or settings where genomic screening is not feasible or where risks outweigh benefits under current policies.
What this research studies
If this work progresses, it could help determine which genetic findings to report, how to obtain informed consent, and how to balance benefits with worries for families of newborns. The team has already screened over 25,000 babies and is now exploring the best practices and policies for genomic newborn screening and data use. The study focuses on practical, real-world questions about saving lives while protecting families from unnecessary anxiety. Results could inform guidelines for screening 0-4 weeks old and following children up to age 5 in diverse settings.
Why it matters
Potential benefit: Better, earlier detection and intervention for treatable conditions in newborns, with thoughtful policies to protect families.
How similar studies have gone: GUARDIAN has demonstrated feasibility with screening thousands of babies and identifying key policy questions for genomic newborn screening.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Chung, Wendy K — Boston Children's Hospital
- Study coordinator: Chung, Wendy K
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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.