Evaluating the value of genomic sequencing for diagnosing rare diseases in children
Surfacing values in the economic evaluation of genomic sequencing for diagnosis of children with rare diseases
This study is looking at how using genetic testing can help find out what's causing rare diseases in kids, and it wants to hear from families and doctors to make sure it's helpful and fair for everyone involved.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11032010 on NIH RePORTER |
What this research studies
This research investigates how genomic sequencing can help diagnose rare diseases in children, aiming to understand its benefits and costs for patients and families. It focuses on gathering insights from various stakeholders, including patients, families, and healthcare providers, to ensure that the evaluation methods are both accurate and ethical. By identifying the potential impacts of genomic sequencing, the research seeks to improve decision-making in healthcare regarding its use for pediatric patients with rare diseases.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 12 years old who are suspected of having rare diseases and have not yet received a diagnosis.
Not a fit: Patients with well-defined diagnoses or those outside the pediatric age range may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and improved access to genomic sequencing for diagnosing rare diseases in children.
How similar studies have performed: Previous research has shown promising results in using genomic sequencing for diagnosing rare diseases, indicating that this approach has potential for success.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Halley, Meghan — Stanford University
- Study coordinator: Halley, Meghan
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.