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

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2024 Mar 3

PMID 38431799

Authors

Blake Vuocolo

Ryan J German

Seema R Lalani

Chaya N Murali

Carlos A Bacino

Stephanie Baskin

Rebecca Littlejohn

John D Odom

Scott McLean

Carrie Schmid

Morgan Nutter

Melissa Stuebben

Emily Magness

Olivia Juarez

Dina El Achi

Bailey Mitchell

Kevin E Glinton

Laurie Robak

Sandesh C S Nagamani

Lisa Saba

Adasia Ritenour

Lilei Zhang

Haley Streff

Katie Chan

K Jordan Kemere

Kent Carter

Nichole Owen

Liesbeth Vossaert

Pengfei Liu

Hugo Bellen

Michael F Wangler

Affiliations

Soon will be listed here.

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.

Citing Articles

Community-oriented, hospital level genetics: a new approach to improve access for underserved communities.

Gofin Y, Tibi F, Fanous E, Ben-Shachar S, Sukenik-Halevy R Pediatr Res. 2025; .

PMID: 39972153 DOI: 10.1038/s41390-025-03908-2.

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