Improving genomic screening for hereditary diseases in diverse populations
Facilitating the Implementation of Population-wide Genomic Screening across Diverse Populations and Settings (FOCUS)
['FUNDING_R01'] · MEDICAL UNIVERSITY OF SOUTH CAROLINA · NIH-10991958
This study is working to improve genetic testing for hereditary conditions like breast and ovarian cancer, aiming to help people find out if they have genes that could increase their risk for serious health issues, and it will create helpful resources for communities to make this testing more accessible to everyone.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MEDICAL UNIVERSITY OF SOUTH CAROLINA (nih funded) |
| Locations | 1 site (CHARLESTON, UNITED STATES) |
| Trial ID | NIH-10991958 on ClinicalTrials.gov |
What this research studies
This research focuses on enhancing population-wide genomic screening (PGS) for hereditary conditions such as breast and ovarian cancer syndromes, Lynch syndrome, and familial hypercholesterolemia. By identifying individuals who unknowingly carry genetic variants that increase their risk for serious diseases, the project aims to develop best practices and an online toolkit to facilitate the implementation of PGS across various communities. The approach includes engaging stakeholders and conducting qualitative assessments to ensure that diverse populations are represented and effectively recruited into genomic initiatives.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals under 21 years old who may have a family history of hereditary cancers or hypercholesterolemia.
Not a fit: Patients who do not have a family history of the targeted hereditary conditions may not receive benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to earlier detection and prevention of hereditary diseases for individuals at risk.
How similar studies have performed: Previous research has shown success in implementing genomic screening programs, but this project aims to establish new guidelines and tools specifically for diverse populations.
Where this research is happening
CHARLESTON, UNITED STATES
- MEDICAL UNIVERSITY OF SOUTH CAROLINA — CHARLESTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ALLEN, CAITLIN GLOECKNER — MEDICAL UNIVERSITY OF SOUTH CAROLINA
- Study coordinator: ALLEN, CAITLIN GLOECKNER
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.
Conditions: Cardiovascular Diseases