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A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

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,...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691828/
https://www.ncbi.nlm.nih.gov/pubmed/35868849
http://dx.doi.org/10.1136/jmg-2022-108655
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author 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
author_facet 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
author_sort Torr, Bethany
collection PubMed
description 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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spelling pubmed-96918282022-11-26 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 J Med Genet Cancer Genetics 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. BMJ Publishing Group 2022-12 2022-07-22 /pmc/articles/PMC9691828/ /pubmed/35868849 http://dx.doi.org/10.1136/jmg-2022-108655 Text en © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
spellingShingle Cancer Genetics
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
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
title A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
title_full A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
title_fullStr A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
title_full_unstemmed A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
title_short A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
title_sort digital pathway for genetic testing in uk nhs patients with cancer: brca-direct randomised study internal pilot
topic Cancer Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691828/
https://www.ncbi.nlm.nih.gov/pubmed/35868849
http://dx.doi.org/10.1136/jmg-2022-108655
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