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A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
Torr, Bethany; Jones, Christopher; Choi, Subin; Allen, Sophie; Kavanaugh, Grace; Hamill, Monica; Garrett, Alice; MacMahon, Suzanne; Loong, Lucy; Reay, Alistair; Yuan, Lina; Valganon Petrizan, Mikel; Monson, Kathryn; Perry, Nicky; Fallowfield, Lesley; Jenkins, Valerie; Gold, Rochelle; Taylor, Amy; Gabe, Rhian; Wiggins, Jennifer; Lucassen, Anneke; Manchanda, Ranjit; Gandhi, Ashu; George, Angela; Hubank, Michael; Kemp, Zoe; Evans, D Gareth; Bremner, Stephen; Turnbull, Clare.
Afiliação
  • Torr B; Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
  • Jones C; Clinical Trials Unit, Brighton and Sussex Medical School, Brighton, UK.
  • Choi S; Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
  • Allen S; Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
  • Kavanaugh G; Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
  • Hamill M; Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
  • Garrett A; Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
  • MacMahon S; Centre for Molecular Pathology, Institute of Cancer Research Sutton, Sutton, UK.
  • Loong L; Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
  • Reay A; Centre for Molecular Pathology, Institute of Cancer Research Sutton, Sutton, UK.
  • Yuan L; Centre for Molecular Pathology, Institute of Cancer Research Sutton, Sutton, UK.
  • Valganon Petrizan M; Centre for Molecular Pathology, Institute of Cancer Research Sutton, Sutton, UK.
  • Monson K; Sussex Health Outcomes, Research and Education in Cancer (SHORE-C), Brighton and Sussex Medical School, Brighton, UK.
  • Perry N; Clinical Trials Unit, Brighton and Sussex Medical School, Brighton, UK.
  • Fallowfield L; Sussex Health Outcomes, Research and Education in Cancer (SHORE-C), Brighton and Sussex Medical School, Brighton, UK.
  • Jenkins V; Sussex Health Outcomes, Research and Education in Cancer (SHORE-C), Brighton and Sussex Medical School, Brighton, UK.
  • Gold R; BRCA Journey, Patient Representative, Leeds, UK.
  • Taylor A; Clinical Genetics, East Anglian Medical Genetics Service, Cambridge, UK.
  • Gabe R; Wolfson Institute of Population Health, Queen Mary's University of London, London, UK.
  • Wiggins J; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK.
  • Lucassen A; Clinical Ethics and Law at Southampton (CELS), University of Southampton, Southampton, UK.
  • Manchanda R; Department of Medicine, Univerity of Oxford Nuffield, Oxford, UK.
  • Gandhi A; Wolfson Institute of Population Health, Queen Mary's University of London, London, UK.
  • George A; Department of Gynaecological Oncology, Barts Health NHS Trust, London, UK.
  • Hubank M; Department of Health Services Research, Faculty of Public Health & Policy, London School of Hygiene and Tropical Medicine, London, UK.
  • Kemp Z; School of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
  • Evans DG; Prevent Breast Cancer Centre, Wythenshawe Hospital Manchester Universities Foundation Trust, Manchester, UK.
  • Bremner S; Institute of Cancer Research, Division of Genetics and Epidemiology, Sutton, UK.
  • Turnbull C; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK.
J Med Genet ; 59(12): 1179-1188, 2022 12.
Article em En | MEDLINE | ID: mdl-35868849
BACKGROUND: Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and only a minority of breast cancer cases access testing. METHODS: We designed a rapid, digital pathway, supported by a genetics specialist hotline, for delivery of germline testing of BRCA1/BRCA2/PALB2 (BRCA-testing), integrated into routine UK NHS breast cancer care. We piloted the pathway, as part of the larger BRCA-DIRECT study, in 130 unselected patients with breast cancer and gathered preliminary data from a randomised comparison of delivery of pretest information digitally (fully digital pathway) or via telephone consultation with a genetics professional (partially digital pathway). RESULTS: Uptake of genetic testing was 98.4%, with good satisfaction reported for both the fully and partially digital pathways. Similar outcomes were observed in both arms regarding patient knowledge score and anxiety, with <5% of patients contacting the genetics specialist hotline. All progression criteria established for continuation of the study were met. CONCLUSION: Pilot data indicate preliminary demonstration of feasibility and acceptability of a fully digital pathway for BRCA-testing and support proceeding to a full powered study for evaluation of non-inferiority of the fully digital pathway, detailed quantitative assessment of outcomes and operational economic analyses. TRIAL REGISTRATION NUMBER: ISRCTN87845055.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encaminhamento e Consulta / Neoplasias da Mama Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Female / Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encaminhamento e Consulta / Neoplasias da Mama Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Female / Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article