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Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
Cohen, Ana S A; Berrios, Courtney D; Zion, Tricia N; Barrett, Cassandra M; Moore, Riley; Boillat, Emelia; Belden, Bradley; Farrow, Emily G; Thiffault, Isabelle; Zuccarelli, Britton D; Pastinen, Tomi.
Afiliación
  • Cohen ASA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA. Electronic address: a
  • Berrios CD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.
  • Zion TN; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA.
  • Barrett CM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA.
  • Moore R; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA.
  • Boillat E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA.
  • Belden B; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA.
  • Farrow EG; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.
  • Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.
  • Zuccarelli BD; Salina Pediatric Care, Salina Regional Health Center, Salina, KS 67401, USA; Department of Pediatrics, University of Kansas School of Medicine - Salina Campus, Salina, KS 67401, USA.
  • Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.
Am J Hum Genet ; 111(5): 825-832, 2024 05 02.
Article en En | MEDLINE | ID: mdl-38636509
ABSTRACT
Next-generation sequencing has revolutionized the speed of rare disease (RD) diagnoses. While clinical exome and genome sequencing represent an effective tool for many RD diagnoses, there is room to further improve the diagnostic odyssey of many RD patients. One recognizable intervention lies in increasing equitable access to genomic testing. Rural communities represent a significant portion of underserved and underrepresented individuals facing additional barriers to diagnosis and treatment. Primary care providers (PCPs) at local clinics, though sometimes suspicious of a potential benefit of genetic testing for their patients, have significant constraints in pursuing it themselves and rely on referrals to specialists. Yet, these referrals are typically followed by long waitlists and significant delays in clinical assessment, insurance clearance, testing, and initiation of diagnosis-informed care management. Not only is this process time intensive, but it also often requires multiple visits to urban medical centers for which distance may be a significant barrier to rural families. Therefore, providing early, "direct-to-provider" (DTP) local access to unrestrictive genomic testing is likely to help speed up diagnostic times and access to care for RD patients in rural communities. In a pilot study with a PCP clinic in rural Kansas, we observed a minimum 5.5 months shortening of time to diagnosis through the DTP exome sequencing program as compared to rural patients receiving genetic testing through the "traditional" PCP-referral-to-specialist scheme. We share our experience to encourage future partnerships beyond our center. Our efforts represent just one step in fostering greater diversity and equity in genomic studies.
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Población Rural / Pruebas Genéticas / Genómica / Enfermedades Raras / Accesibilidad a los Servicios de Salud Idioma: En Revista: Am J Hum Genet Año: 2024 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Población Rural / Pruebas Genéticas / Genómica / Enfermedades Raras / Accesibilidad a los Servicios de Salud Idioma: En Revista: Am J Hum Genet Año: 2024 Tipo del documento: Article