Using genomic sequencing to help diagnose children with genetic conditions
Utility of Genomic Sequencing in Community Care Contexts
This study is looking at how using advanced genetic testing can help diagnose children with unknown genetic conditions in community healthcare settings, and it aims to understand how these diagnoses can improve access to treatments and support for families.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Louisville NIH-funded |
| Lab location | 1 site (Louisville, United States) |
| Project ID | NIH-10867345 on NIH RePORTER |
What this research studies
This research investigates how genomic sequencing technologies, such as exome and genome sequencing, can be effectively utilized in community healthcare settings to diagnose children with undiagnosed genetic conditions. The study aims to understand the benefits and drawbacks of receiving a genomic diagnosis, particularly in terms of how it impacts access to therapies and services that improve children's quality of life. By focusing on the experiences of families and the utility of genomic information outside of traditional medical settings, the research seeks to identify ways to enhance the value of genomic diagnoses for affected children and their caregivers.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who have undiagnosed genetic conditions and their families seeking answers and support.
Not a fit: Patients with well-defined genetic conditions that are already diagnosed and managed may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide valuable insights that improve the diagnosis and management of children with complex genetic conditions, leading to better access to supportive therapies.
How similar studies have performed: While genomic sequencing has been explored in clinical settings, this research aims to fill a gap by examining its utility specifically in community healthcare contexts, making it a novel approach.
Where this research is happening
Louisville, United States
- University of Louisville — Louisville, United States (Active)
Researchers
- Principal investigator: Brothers, Kyle Bertram — University of Louisville
- Study coordinator: Brothers, Kyle Bertram
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.