Newborn genome screening to find and prevent childhood and adult genetic diseases
Precision Medicine Policy and Treatment (PreEMPT) Model II
This project looks at whether adding genomic sequencing for newborns and targeted testing of their siblings can help find treatable heart, muscle, and metabolic conditions earlier.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard Pilgrim Health Care, INC. NIH-funded |
| Lab location | 1 site (Canton, UNITED STATES) |
| Project ID | NIH-11285269 on NIH RePORTER |
What this research studies
From my perspective as a parent, the team is using a computer simulation that models what would happen if newborns received genomic sequencing and if siblings of affected children were screened. The model extends earlier work on pediatric cancer and heart conditions to include neuromuscular and metabolic diseases and projects health outcomes into adulthood. Researchers will compare costs, long-term illness rates, and potential benefits of screening strategies. The work will also consider targeted sibling testing when a pathogenic variant is found in a child.
Who could benefit from this research
Good fit: Newborns and families with children who have known or suspected childhood-onset genetic conditions, plus siblings of children found to have pathogenic variants, are the most relevant groups.
Not a fit: People with purely non-genetic conditions or whose genetic findings lack preventive or treatment options are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could show that early genomic screening helps catch treatable genetic conditions sooner and may reduce future illness or costs.
How similar studies have performed: Earlier PreEMPT work supported possible benefits for pediatric cancer and cardiac conditions, but broader benefits and cost-effectiveness across more diseases remain uncertain.
Where this research is happening
Canton, UNITED STATES
- Harvard Pilgrim Health Care, INC. — Canton, United States (Active)
Researchers
- Principal investigator: Christensen, Kurt Derek — Harvard Pilgrim Health Care, INC.
- Study coordinator: Christensen, Kurt Derek
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.