Improving Access to Exome Sequencing in a Medically Underserved Population Through the Texome Project.

Blake Vuocolo,Ryan J. German，Hugo Bellen,Michael F. Wangler

Genetics in Medicine（2024）

Baylor Coll Med | Texas Childrens Hosp Dept Pathol | Baylor Genet Labs

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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 fi nancial 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 fi rst 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 out of 60 (30%) of Texome participants. Plus, in 11 out of 60 (18%) participants, a partial or probable diagnosis was identi fi ed. Overall, 5 participants had a change in medical management. Conclusion: 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. (c) 2024 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.

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Key words

Access to genomic medicine,Diagnostic odyssey,Exome sequencing,Genetic testing,Under-represented populations

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