Improving newborn screening for cystic fibrosis to be more accurate and fair
Optimal newborn screening algorithms - efficacy and equity
Develops and compares newborn screening methods to improve detection of cystic fibrosis in newborns, with attention to fairness for African American babies.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama in Tuscaloosa NIH-funded |
| Lab location | 1 site (Tuscaloosa, United States) |
| Project ID | NIH-11190804 on NIH RePORTER |
What this research studies
If your baby is part of this work, researchers will examine how current newborn screening steps (a low-cost blood test, follow-up genetic testing, and confirmatory sweat testing) are combined across different places. They will use existing dried blood spot results and screening data to model alternative decision rules, such as different test thresholds and which genetic variants to include. The team aims to balance detecting true cases, avoiding unnecessary follow-ups, and keeping costs reasonable, while explicitly checking performance for African American infants. Results will be used to propose screening algorithms that states could adopt to reduce missed diagnoses and false alarms.
Who could benefit from this research
Good fit: Ideal candidates are newborns in the first days or weeks of life whose parents are willing to provide or allow use of their routine newborn screening bloodspot data and follow-up information.
Not a fit: Older children, adults, or families not involved in newborn screening programs are unlikely to benefit directly from this project.
Why it matters
Potential benefit: Could lead to earlier and more reliable cystic fibrosis detection for newborns, reduce unnecessary follow-up tests, and reduce racial disparities in screening outcomes.
How similar studies have performed: Past work changing screening thresholds and mutation panels has improved detection in some settings, but this project is broader and explicitly targets fairness across groups, so it is partly novel.
Where this research is happening
Tuscaloosa, United States
- University of Alabama in Tuscaloosa — Tuscaloosa, United States (Active)
Researchers
- Principal investigator: Bish, Douglas — University of Alabama in Tuscaloosa
- Study coordinator: Bish, Douglas
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.