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

Autor:	Vuocolo B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., German RJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Baskin S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Odom JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., McLean S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Schmid C; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Nutter M; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Stuebben M; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Magness E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Juarez O; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., El Achi D; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Mitchell B; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital Department of Pathology, Houston, TX., Saba L; Texas Children's Hospital Department of Pathology, Houston, TX., Ritenour A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Zhang L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital Department of Pathology, Houston, TX., Chan K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Kemere KJ; Department of Internal Medicine, Section Transition Medicine, Baylor College of Medicine and Texas Children's Hospital, Houston, TX., Carter K; Department of Pediatrics, University of Texas Rio Grande Valley, Harlingen, TX., Owen N; Baylor Genetics Laboratories, Houston, TX., Vossaert L; Baylor Genetics Laboratories, Houston, TX., Liu P; Baylor Genetics Laboratories, Houston, TX., Bellen H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX. Electronic address: mw147467@bcm.edu.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101102. Date of Electronic Publication: 2024 Feb 29.
DOI:	10.1016/j.gim.2024.101102
Abstrakt:	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. Competing Interests: 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. (Copyright © 2024. Published by Elsevier Inc.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu