Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
| العنوان: | Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement. |
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| المؤلفون: | Vuocolo B; Baylor College of Medicine., Sierra R; Baylor College of Medicine., Brooks D; Baylor College of Medicine., Holder C; Baylor College of Medicine., Urbanski L; Baylor College of Medicine., Rodriguez K; The University of Texas Rio Grande Valley., Gamez JD; DHR Health., Mulukutla SN; DHR Health., Berry L; The University of Texas Rio Grande Valley., Hernandez A; The University of Texas Rio Grande Valley., Allegre A; The University of Texas Rio Grande Valley., Hidalgo H; The University of Texas Rio Grande Valley., Rodriguez S; The University of Texas Rio Grande Valley., Magallan S; The University of Texas Rio Grande Valley., Gibson J; The University of Texas Rio Grande Valley., Bernini JC; Texas Children's Hospital., Watson M; Milestones Therapeutic Associates., Nelson R; The University of Texas Rio Grande Valley., Mellin-Sanchez L; University of Florida Department of Pediatrics., Dai H; Baylor College of Medicine., Soler-Alfonso C; Baylor College of Medicine., Carter K; The University of Texas Rio Grande Valley., Lee B; Baylor College of Medicine., Lalani SR; Baylor College of Medicine. |
| المصدر: | Research square [Res Sq] 2023 Dec 13. Date of Electronic Publication: 2023 Dec 13. |
| نوع المنشور: | Preprint |
| اللغة: | English |
| بيانات الدورية: | Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE |
| مستخلص: | Background: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with low socioeconomic status, and other vulnerable populations. The Rio Grande Valley at the Texas-Mexico border is predominantly Hispanic with a high poverty rate and an increased prevalence of birth defects, with very limited access to genetics services. The cost of a diagnosis is often times out of reach for these underserved families. Funded by the National Center for Advancing Translational Sciences (NCATS), Project GIVE ( G enetic I nclusion by V irtual E valuation) was launched in 2022 to shorten the time to diagnosis and alleviate healthcare inequities in this region, with the goal of improving pediatric health outcomes. Methods: Utilizing Consultagene, an innovative electronic health record (EHR) agnostic virtual telehealth and educational platform, we designed the study to recruit 100 children with rare diseases over a period of two years from this region, through peer-to-peer consultation and referral. Conclusions: Project GIVE study has allowed advanced genetic evaluation and delivery of genome sequencing through the virtual portal, effectively circumventing the recognized socioeconomic and other barriers within this population. This paper explores the successful community engagement process and implementation of an alternate genomics evaluation platform and testing approach, aiming to reduce the diagnostic journey for individuals with rare diseases residing in a medically underserved region. Competing Interests: Competing interests The authors declare that they have no competing interests. |
| التعليقات: | Update in: J Neurodev Disord. 2024 Sep 9;16(1):52. doi: 10.1186/s11689-024-09560-x. (PMID: 39251895) |
| References: | J Pers Med. 2021 Mar 13;11(3):. (PMID: 33805616) Acad Med. 2020 Sep;95(9S A Snapshot of Medical Student Education in the United States):S517-S520. (PMID: 33626757) Birth Defects Res A Clin Mol Teratol. 2006 Nov;76(11):787-92. (PMID: 17094140) BMC Public Health. 2017 May 25;17(1):503. (PMID: 28545429) Public Health Genomics. 2021 Sep 7;:1-10. (PMID: 34515218) Ethn Dis. 2009 Spring;19(2):166-71. (PMID: 19537228) Pediatr Res. 2021 Jan;89(2):295-300. (PMID: 32932427) Cancer. 2017 Jul 1;123(13):2497-2505. (PMID: 28182268) Genet Med. 2019 Dec;21(12):2781-2790. (PMID: 31189963) Am J Public Health. 2014 Feb;104(2):e16-31. (PMID: 24328648) JAMA Netw Open. 2021 Nov 1;4(11):e2133205. (PMID: 34748007) Genet Med. 2021 Aug;23(8):1381-1390. (PMID: 34012068) Genet Med. 2022 Aug;24(8):1630-1639. (PMID: 35482015) J Clin Transl Sci. 2020 Apr 24;4(6):537-546. (PMID: 33948230) Ethn Dis. 2012 Summer;22(3):267-73. (PMID: 22870568) Nat Rev Genet. 2021 Oct;22(10):621-622. (PMID: 34244675) |
| معلومات مُعتمدة: | P50 HD103555 United States HD NICHD NIH HHS; UG3 TR004047 United States TR NCATS NIH HHS |
| فهرسة مساهمة: | Keywords: Consultagene; Virtual access to genomics; genome sequencing; medically underserved population |
| تواريخ الأحداث: | Date Created: 20240103 Latest Revision: 20240924 |
| رمز التحديث: | 20240924 |
| مُعرف محوري في PubMed: | PMC10760238 |
| DOI: | 10.21203/rs.3.rs-3699740/v1 |
| PMID: | 38168160 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2693-5015 |
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| DOI: | 10.21203/rs.3.rs-3699740/v1 |