Age-based genetic screening for babies and children
Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomics
This program offers targeted genetic checks at specific ages to help parents and doctors find treatable conditions early in babies and young children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project ID | NIH-11174543 on NIH RePORTER |
What this research studies
Your newborn or child would receive targeted genetic testing at set wellness visits instead of sequencing everything at birth. Experts will choose which conditions to test for based on when signs usually appear and whether early action can help. The team will work with community members to create clear materials and get feedback so families can make informed choices. A pilot at UNC-affiliated clinics will try the approach and identify barriers and solutions for wider use.
Who could benefit from this research
Good fit: Ideal candidates are newborns, infants, and young children seen at participating pediatric clinics whose parents are willing to consent to age-targeted genetic screening.
Not a fit: People seeking whole-genome sequencing for all conditions, adults outside the newborn/child age windows, or those without actionable variants may not get direct benefit from this targeted program.
Why it matters
Potential benefit: If successful, this could catch actionable genetic conditions earlier so treatments or monitoring can start before symptoms cause harm.
How similar studies have performed: This builds on newborn screening and prior genomic pilot projects that showed promise, but using age-based targeted panels is a relatively new approach.
Where this research is happening
Chapel Hill, United States
- Univ of North Carolina Chapel Hill — Chapel Hill, United States (Active)
Researchers
- Principal investigator: Berg, Jonathan S — Univ of North Carolina Chapel Hill
- Study coordinator: Berg, Jonathan S
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.