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Challenges and practical solutions for managing secondary genomic findings in primary care.
Sebastian, Agnes; Carroll, June C; Vanstone, Meredith; Clausen, Marc; Kodida, Rita; Reble, Emma; Mighton, Chloe; Shickh, Salma; Aronson, Melyssa; Eisen, Andrea; Elser, Christine; Lerner-Ellis, Jordan; Kim, Raymond H; Bombard, Yvonne.
Afiliación
  • Sebastian A; University of Toronto, Toronto, Ontario, Canada; The Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Carroll JC; University of Toronto, Toronto, Ontario, Canada; Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
  • Vanstone M; McMaster University, Hamilton, Ontario, Canada.
  • Clausen M; The Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Kodida R; The Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Reble E; The Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Mighton C; University of Toronto, Toronto, Ontario, Canada; The Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Shickh S; University of Toronto, Toronto, Ontario, Canada; The Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Aronson M; University of Toronto, Toronto, Ontario, Canada; Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
  • Eisen A; Sunnybrook Hospital, Toronto, Ontario, Canada.
  • Elser C; Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
  • Lerner-Ellis J; University of Toronto, Toronto, Ontario, Canada; Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
  • Kim RH; Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada; University Health Network, Toronto, Ontario, Canada.
  • Bombard Y; University of Toronto, Toronto, Ontario, Canada; The Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada. Electronic address: yvonne.bombard@utoronto.ca.
Eur J Med Genet ; 65(1): 104384, 2022 Jan.
Article en En | MEDLINE | ID: mdl-34768014
Primary care providers will increasingly be tasked with managing most secondary findings from genomic sequencing, but literature exploring their capacity to manage findings beyond conventional genetic testing is limited. This study aimed to explore primary care providers' challenges and potential solutions for managing secondary findings. Providers were recruited in two groups. Group 1 providers had a patient in their practice who received secondary findings and all potential group 1 providers were invited to participate. Group 2 providers were provided with the secondary findings of a hypothetical patient and were purposefully sampled for maximal variation in sex, practice setting, and geographic location. Providers were interviewed about their challenges and solutions managing secondary findings from a patient in their practice or a hypothetical patient. Using interpretive description methodology, transcripts were analysed thematically complemented by constant comparison. Out of the fifty-five providers invited, 15 family physicians participated across community and academic settings in Ontario, Canada (range 6-40 years in practice; 10/15 female). Providers described a responsibility to manage secondary findings, but limited capacity for this, describing practice, knowledge, and technical challenges. Providers expressed concern that compared to other incidental findings, secondary genomic findings might be reported directly to patients and result in longer-term anxiety. Potential solutions were a structured letter with categorized results and summary tables highlighting key secondary findings with follow-up recommendations and resources, as well as electronic medical records (EMRs) that store and integrate genomic information for prescribing or referrals. These solutions were deemed essential to address knowledge and technical challenges faced by primary care physicians and ultimately promote clinical utility of secondary findings.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hallazgos Incidentales / Médicos de Atención Primaria / Secuenciación Completa del Genoma Tipo de estudio: Diagnostic_studies / Guideline / Qualitative_research Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hallazgos Incidentales / Médicos de Atención Primaria / Secuenciación Completa del Genoma Tipo de estudio: Diagnostic_studies / Guideline / Qualitative_research Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Países Bajos