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. 2024 Jun;26(6):101102.
doi: 10.1016/j.gim.2024.101102. Epub 2024 Feb 29.

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

Blake Vuocolo  1 , Ryan J German  1 , Seema R Lalani  2 , Chaya N Murali  2 , Carlos A Bacino  2 , Stephanie Baskin  3 , Rebecca Littlejohn  4 , John D Odom  3 , Scott McLean  4 , Carrie Schmid  4 , Morgan Nutter  4 , Melissa Stuebben  4 , Emily Magness  2 , Olivia Juarez  4 , Dina El Achi  4 , Bailey Mitchell  4 , Kevin E Glinton  2 , Laurie Robak  2 , Sandesh C S Nagamani  5 , Lisa Saba  6 , Adasia Ritenour  2 , Lilei Zhang  2 , Haley Streff  5 , Katie Chan  2 , K Jordan Kemere  7 , Kent Carter  8 ; Texome Project; Nichole Owen  9 , Liesbeth Vossaert  9 , Pengfei Liu  9 , Hugo Bellen  1 , Michael F Wangler  10
Collaborators, Affiliations

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

Blake Vuocolo et al. Genet Med. 2024 Jun.

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 out of 60 (30%) of Texome participants. Plus, in 11 out of 60 (18%) participants, a partial or probable diagnosis was identified. 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.

Keywords: Access to genomic medicine; Diagnostic odyssey; Exome sequencing; Genetic testing; Under-represented populations.

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Conflict of interest statement

Conflict of Interest Lilei Zhang owns equity and consults for Pelagos Pharmaceuticals, Inc. Scott McLean is a medical consultant for Face2Gene. Baylor College of Medicine (BCM) and Miraca Holdings Inc have formed a joint venture with shared ownership and governance of Baylor Genetics (BG), which performs genetic testing and derives revenue. Pengfei Liu is an employee of BCM and derives support through a professional services agreement with BG. All other authors declare no conflicts of interest.

Figures

Figure 1 |
Figure 1 |. Texome participant and research pipelines.
Participants partake in 5 study visits over 2 years. If proband exome is considered unsolved or possibly solved, the Texome research team performs duo or trio ES (i.e., proband and available parent samples) and reanalyzes the data using MAARVEL AI technology. Any promising candidate variants from reanalysis will be studied further using model organisms (MO). Probably solved cases do not undergo reanalysis but warrant additional genomic/functional studies. Regardless of whether a participant receives a genetic diagnosis through Texome, they will participate in Visits 3–5 to provide updates on clinical symptoms and review their genetic test results and medical management recommendations. * indicates timepoints in which we collect survey data from families (including demographic information, medical symptoms, and experiences with genetic testing).
Figure 2 |
Figure 2 |. Financial barrier to receiving clinical exome (n=69).
Provider- or participant-reported financial reason for obtaining exome sequencing through the Texome project, stratified into financial barriers provided on application survey. “Other” financial barriers were not specified for the two cases. Three applicants did not complete this survey question, but participants were confirmed to meet eligibility via further correspondence with the applicant.
Figure 3 |
Figure 3 |. Exome sequencing results for first 60 Texome cases.
Exome sequencing outcomes for pediatric and adult patients stratified into the cases that were solved, partially solved, probably solved, possibly solved, and unsolved.
See this image and copyright information in PMC

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