School of Medicine Publications and Presentations
Document Type
Article
Publication Date
6-2024
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.
Recommended Citation
Vuocolo, B., German, R. J., Lalani, S. R., Murali, C. N., Bacino, C. A., Baskin, S., Littlejohn, R., Odom, J. D., McLean, S., Schmid, C., Nutter, M., Stuebben, M., Magness, E., Juarez, O., El Achi, D., Mitchell, B., Glinton, K. E., Robak, L., Nagamani, S. C. S., Saba, L., … Wangler, M. F. (2024). Improving access to exome sequencing in a medically underserved population through the Texome Project. Genetics in medicine : official journal of the American College of Medical Genetics, 26(6), 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
Comments
Original published version available at https://doi.org/10.1016/j.gim.2024.101102