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

Bethany Torr; Subin Choi; Sophie Allen; Grace Kavanaugh; Monica Hamill; Alice Garrett; Suzanne MacMahon; Lucy Loong; Alistair Reay; Lina Yuan; Mikel Valganon Petrizan; Kathryn Monson; Nicky Perry; Lesley Fallowfield; Valerie Jenkins; Rochelle Gold; Amy Taylor; Rhian Gabe; Jennifer Wiggins; Anneke Lucassen; Ranjit Manchanda; Ashu Gandhi; Angela George; Michael Hubank; Zoe Kemp; D Gareth Evans; Stephen Bremner; Clare Turnbull

doi:10.1136/jmg-2022-108655

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

Bethany Torr, Subin Choi, Sophie Allen, Grace Kavanaugh, Monica Hamill, Alice Garrett, Suzanne MacMahon, Lucy Loong, Alistair Reay, Lina Yuan, Mikel Valganon Petrizan, Kathryn Monson, Nicky Perry, Lesley Fallowfield, Valerie Jenkins, Rochelle Gold, Amy Taylor, Rhian Gabe, Jennifer Wiggins, Anneke LucassenRanjit Manchanda, Ashu Gandhi, Angela George, Michael Hubank, Zoe Kemp, D Gareth Evans, Stephen Bremner, Clare Turnbull

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Journal	Journal of Medical Genetics
DOIs	https://doi.org/10.1136/jmg-2022-108655
Publication status	Published - 22 Jul 2022

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Manchester Cancer Research Centre

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10.1136/jmg-2022-108655

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Torr, B., Choi, S., Allen, S., Kavanaugh, G., Hamill, M., Garrett, A., MacMahon, S., Loong, L., Reay, A., Yuan, L., Valganon Petrizan, M., Monson, K., Perry, N., Fallowfield, L., Jenkins, V., Gold, R., Taylor, A., Gabe, R., Wiggins, J., ... Turnbull, C. (2022). A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot. Journal of Medical Genetics. https://doi.org/10.1136/jmg-2022-108655

@article{280b74463bb846d5a6bd9809431c46fb,

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

abstract = "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.",

author = "Bethany Torr and Subin Choi and Sophie Allen and Grace Kavanaugh and Monica Hamill and Alice Garrett and Suzanne MacMahon and Lucy Loong and Alistair Reay and Lina Yuan and {Valganon Petrizan}, Mikel and Kathryn Monson and Nicky Perry and Lesley Fallowfield and Valerie Jenkins and Rochelle Gold and Amy Taylor and Rhian Gabe and Jennifer Wiggins and Anneke Lucassen and Ranjit Manchanda and Ashu Gandhi and Angela George and Michael Hubank and Zoe Kemp and Evans, {D Gareth} and Stephen Bremner and Clare Turnbull",

note = "{\textcopyright} Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.",

year = "2022",

month = jul,

day = "22",

doi = "10.1136/jmg-2022-108655",

language = "English",

journal = "Journal of Medical Genetics",

issn = "1468-6244",

publisher = "BMJ ",

}

Torr, B, Choi, S, Allen, S, Kavanaugh, G, Hamill, M, Garrett, A, MacMahon, S, Loong, L, Reay, A, Yuan, L, Valganon Petrizan, M, Monson, K, Perry, N, Fallowfield, L, Jenkins, V, Gold, R, Taylor, A, Gabe, R, Wiggins, J, Lucassen, A, Manchanda, R, Gandhi, A, George, A, Hubank, M, Kemp, Z, Evans, DG, Bremner, S & Turnbull, C 2022, 'A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot', Journal of Medical Genetics. https://doi.org/10.1136/jmg-2022-108655

TY - JOUR

T1 - A digital pathway for genetic testing in UK NHS patients with cancer

T2 - BRCA-DIRECT randomised study internal pilot

AU - Torr, Bethany

AU - Choi, Subin

AU - Allen, Sophie

AU - Kavanaugh, Grace

AU - Hamill, Monica

AU - Garrett, Alice

AU - MacMahon, Suzanne

AU - Loong, Lucy

AU - Reay, Alistair

AU - Yuan, Lina

AU - Valganon Petrizan, Mikel

AU - Monson, Kathryn

AU - Perry, Nicky

AU - Fallowfield, Lesley

AU - Jenkins, Valerie

AU - Gold, Rochelle

AU - Taylor, Amy

AU - Gabe, Rhian

AU - Wiggins, Jennifer

AU - Lucassen, Anneke

AU - Manchanda, Ranjit

AU - Gandhi, Ashu

AU - George, Angela

AU - Hubank, Michael

AU - Kemp, Zoe

AU - Evans, D Gareth

AU - Bremner, Stephen

AU - Turnbull, Clare

PY - 2022/7/22

Y1 - 2022/7/22

N2 - 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.

AB - 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.

U2 - 10.1136/jmg-2022-108655

DO - 10.1136/jmg-2022-108655

M3 - Article

C2 - 35868849

SN - 1468-6244

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -

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

Abstract

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