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A Centralized Approach for Practicing Genomic Medicine.
Biswas, Sawona; Medne, Livija; Devkota, Batsal; Bedoukian, Emma; Berrodin, Donna; Izumi, Kosuke; Deardorff, Matthew A; Tarpinian, Jennifer; Leonard, Jacqueline; Pyle, Loiusa; Gray, Christopher; Montgomery, Jasmine; Williams, Tyrah; Fortunato, Sierra; Weatherly, Jamila; McEldrew, Deborah; Kaur, Manindar; Raible, Sarah E; Wilkens, Alisha; Spinner, Nancy B; Skraban, Cara; Krantz, Ian D.
Afiliación
  • Biswas S; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Medne L; Contributed equally as co-first authors.
  • Devkota B; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Bedoukian E; Contributed equally as co-first authors.
  • Berrodin D; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Izumi K; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Deardorff MA; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Tarpinian J; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Leonard J; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Pyle L; Departments of Pediatrics and.
  • Gray C; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Montgomery J; Departments of Pediatrics and.
  • Williams T; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Fortunato S; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Weatherly J; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • McEldrew D; Departments of Pediatrics and.
  • Kaur M; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Raible SE; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Wilkens A; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Spinner NB; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Skraban C; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
  • Krantz ID; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Pediatrics ; 145(3)2020 03.
Article en En | MEDLINE | ID: mdl-32102930
Next-generation sequencing has revolutionized the diagnostic process, making broadscale testing affordable and applicable to almost all specialties; however, there remain several challenges in its widespread implementation. Barriers such as lack of infrastructure or expertise within local health systems and complex result interpretation or counseling make it harder for frontline clinicians to incorporate genomic testing in their existing workflow. The general population is more informed and interested in pursuing genetic testing, and this has been coupled with the increasing accessibility of direct-to-consumer testing. As a result of these changes, primary care physicians and nongenetics specialty providers find themselves seeing patients for whom genetic testing would be beneficial but managing genetic test results that are out of their scope of practice. In this report, we present a practical and centralized approach to providing genomic services through an independent, enterprise-wide clinical service model. We present 4 years of clinical experience, with >3400 referrals, toward designing and implementing the clinical service, maximizing resources, identifying barriers, and improving patient care. We provide a framework that can be implemented at other institutions to support and integrate genomic services across the enterprise.
Asunto(s)

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pediatría / Pruebas Genéticas / Atención a la Salud Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Pediatrics Año: 2020 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pediatría / Pruebas Genéticas / Atención a la Salud Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Pediatrics Año: 2020 Tipo del documento: Article