Improving access to exome sequencing in a medically underserved population through the Texome Project

Authors

Blake Vuocolo
Ryan J. German
Seema R. Lalani
Chaya N. Murali
Carlos A. Bacino
Stephanie Baskin
Rebecca Littlejohn
John D. Odom
Scott McLean
Kent Carter, The University of Texas Rio Grande Valley

Document Type

Article

Publication Date

2-2024

Abstract

Purpose

Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing.

Methods

The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project.

Results

We highlight the Texome Project process and describe the outcomes of the first 60 ES results for study participants. Participants received a genetic evaluation, ES, and return of results at no cost. We summarize the psychosocial or medical implications of these genetic diagnoses. Thus far, ES provided molecular diagnoses for 18/60 (30%) of Texome participants. Plus, in 11/60 (18%) participants, a partial or probable diagnosis was identified. Overall, five participants had a change in medical management.

Conclusions

To date, the Texome Project has recruited a racially, ethnically, and socioeconomically diverse cohort. The diagnostic rate and medical impact in this cohort support the need for expanded access to genetic testing and services. The Texome Project will continue reducing barriers to genomic care throughout the future study years.

Comments

Original published version available at https://doi.org/10.1016/j.gim.2024.101102

Recommended Citation

Vuocolo, B., German, R. J., Lalani, S. R., Murali, C. N., Bacino, C. A., Baskin, S., ... & Wangler, M. (2024). Improving access to exome sequencing in a medically underserved population through the Texome Project. Genetics in Medicine, 101102. https://doi.org/10.1016/j.gim.2024.101102

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-No Derivative Works 4.0 International License.

Publication Title

Genetics in Medicine

DOI

10.1016/j.gim.2024.101102

Academic Level

faculty

Mentor/PI Department

Pediatrics