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Improving access to exome sequencing in a medically underserved population through the Texome Project
Blake Vuocolo1, Ryan J German1, Seema R Lalani2
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.
Summary
The Texome Project provides free exome sequencing (ES) to underserved patients with rare diseases, achieving a 30% molecular diagnosis rate and improving medical management, highlighting the need for broader genomic healthcare access.
Area of Science:
- Genomic Medicine
- Rare Diseases
- Genetic Testing
Background:
- Genomic medicine offers solutions for complex phenotypes but faces access barriers.
- Insurance limitations and systemic issues hinder comprehensive genetic evaluations.
Purpose of the Study:
- To reduce barriers to genomic testing for underserved populations.
- To provide exome sequencing (ES) to individuals with undiagnosed rare diseases and financial constraints.
Main Methods:
- The Texome Project enrolled participants facing financial barriers to clinical exome sequencing.
- Provided genetic evaluation, ES, and results return at no cost.
Main Results:
- Exome sequencing yielded molecular diagnoses in 30% (18/60) of participants.
- Partial or probable diagnoses were identified in 18% (11/60) of participants.
- Medical management changed for 5 participants based on genetic diagnoses.
Conclusions:
- The Texome Project successfully recruited a diverse cohort.
- High diagnostic and medical impact rates underscore the need for expanded genetic testing access.
- The project continues to address barriers in genomic healthcare.
