BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

Bethany Torr; Grace Kavanaugh; Monica Hamill; Sophie Allen; Subin Choi; Alice Garrett; Mikel Valganon-Petrizan; Suzanne MacMahon; Lina Yuan; Rosalind Way; Helena Harder; Rochelle Gold; Amy Taylor; Rhian Gabe; Anneke Lucassen; Ranjit Manchanda; Lesley Fallowfield; Valerie Jenkins; Ashu Gandhi; D Gareth Evans; Angela George; Michael Hubank; Zoe Kemp; Stephen Bremner; Clare Turnbull

doi:10.1038/s41416-024-02832-2

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

Bethany Torr, Grace Kavanaugh, Monica Hamill, Sophie Allen, Subin Choi, Alice Garrett, Mikel Valganon-Petrizan, Suzanne MacMahon, Lina Yuan, Rosalind Way, Helena Harder, Rochelle Gold, Amy Taylor, Rhian Gabe, Anneke Lucassen, Ranjit Manchanda, Lesley Fallowfield, Valerie Jenkins, Ashu Gandhi, D Gareth EvansAngela George, Michael Hubank, Zoe Kemp, Stephen Bremner, Clare Turnbull

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

Abstract

BACKGROUND: Genetic testing to identify germline high-risk pathogenic variants in breast cancer susceptibility genes is increasingly part of the breast cancer diagnostic pathway. Novel patient-centred pathways may offer opportunity to expand capacity and reduce turnaround time.

METHODS: We recruited 1140 women with unselected breast cancer to undergo germline genetic testing through the BRCA-DIRECT pathway (which includes a digital platform, postal saliva sampling and a genetic counsellor telephone helpline). Ahead of consenting to the test, participants were randomised to receive information about genetic testing digitally (569/1140, 49.9%) or via a pre-test genetic counselling consultation (571/1140, 50.1%).

RESULTS: 1001 (87.8%) participants progressed to receive their pre-test information and consented to testing. The primary outcome, uptake of genetic testing, was higher amongst participants randomised to receive digital information compared with those randomised to a pre-test genetic counselling consultation (90.8% (95% CI: 88.5% to 93.1%) vs 84.7% (95% CI: 81.8% to 87.6%), p = 0.002, adjusted for participant age and site). Non-inferiority was observed in relation to patient knowledge, anxiety, and satisfaction.

CONCLUSIONS: Findings demonstrate that standardised, digital information offers a non-inferior alternative to conventional genetic counselling, and an end-to-end patient-centred, digital pathway (supported by genetic counselling hotline) could feasibly be implemented into breast oncology settings.

CLINICAL TRIAL REGISTRATION: The study is registered with, and protocol available on, ClinicalTrials.gov (NCT04842799).

Original language	English
Pages (from-to)	1506-1515
Number of pages	10
Journal	British Journal of Cancer
Volume	131
Issue number	9
DOIs	https://doi.org/10.1038/s41416-024-02832-2
Publication status	Published - Nov 2024

Keywords

Humans
Female
Breast Neoplasms/genetics
Genetic Testing/methods
Middle Aged
Germ-Line Mutation
United Kingdom
Adult
Genetic Counseling/methods
BRCA1 Protein/genetics
BRCA2 Protein/genetics
Genetic Predisposition to Disease
Aged

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/s41416-024-02832-2

Cite this

Torr, B., Kavanaugh, G., Hamill, M., Allen, S., Choi, S., Garrett, A., Valganon-Petrizan, M., MacMahon, S., Yuan, L., Way, R., Harder, H., Gold, R., Taylor, A., Gabe, R., Lucassen, A., Manchanda, R., Fallowfield, L., Jenkins, V., Gandhi, A., ... Turnbull, C. (2024). BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial. British Journal of Cancer, 131(9), 1506-1515. https://doi.org/10.1038/s41416-024-02832-2

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title = "BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial",

abstract = "BACKGROUND: Genetic testing to identify germline high-risk pathogenic variants in breast cancer susceptibility genes is increasingly part of the breast cancer diagnostic pathway. Novel patient-centred pathways may offer opportunity to expand capacity and reduce turnaround time.METHODS: We recruited 1140 women with unselected breast cancer to undergo germline genetic testing through the BRCA-DIRECT pathway (which includes a digital platform, postal saliva sampling and a genetic counsellor telephone helpline). Ahead of consenting to the test, participants were randomised to receive information about genetic testing digitally (569/1140, 49.9%) or via a pre-test genetic counselling consultation (571/1140, 50.1%).RESULTS: 1001 (87.8%) participants progressed to receive their pre-test information and consented to testing. The primary outcome, uptake of genetic testing, was higher amongst participants randomised to receive digital information compared with those randomised to a pre-test genetic counselling consultation (90.8% (95% CI: 88.5% to 93.1%) vs 84.7% (95% CI: 81.8% to 87.6%), p = 0.002, adjusted for participant age and site). Non-inferiority was observed in relation to patient knowledge, anxiety, and satisfaction.CONCLUSIONS: Findings demonstrate that standardised, digital information offers a non-inferior alternative to conventional genetic counselling, and an end-to-end patient-centred, digital pathway (supported by genetic counselling hotline) could feasibly be implemented into breast oncology settings.CLINICAL TRIAL REGISTRATION: The study is registered with, and protocol available on, ClinicalTrials.gov (NCT04842799).",

keywords = "Humans, Female, Breast Neoplasms/genetics, Genetic Testing/methods, Middle Aged, Germ-Line Mutation, United Kingdom, Adult, Genetic Counseling/methods, BRCA1 Protein/genetics, BRCA2 Protein/genetics, Genetic Predisposition to Disease, Aged",

author = "Bethany Torr and Grace Kavanaugh and Monica Hamill and Sophie Allen and Subin Choi and Alice Garrett and Mikel Valganon-Petrizan and Suzanne MacMahon and Lina Yuan and Rosalind Way and Helena Harder and Rochelle Gold and Amy Taylor and Rhian Gabe and Anneke Lucassen and Ranjit Manchanda and Lesley Fallowfield and Valerie Jenkins and Ashu Gandhi and Evans, {D Gareth} and Angela George and Michael Hubank and Zoe Kemp and Stephen Bremner and Clare Turnbull",

note = "{\textcopyright} 2024. The Author(s).",

year = "2024",

month = nov,

doi = "10.1038/s41416-024-02832-2",

language = "English",

volume = "131",

pages = "1506--1515",

journal = "British Journal of Cancer",

issn = "0007-0920",

publisher = "Springer Nature",

number = "9",

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Torr, B, Kavanaugh, G, Hamill, M, Allen, S, Choi, S, Garrett, A, Valganon-Petrizan, M, MacMahon, S, Yuan, L, Way, R, Harder, H, Gold, R, Taylor, A, Gabe, R, Lucassen, A, Manchanda, R, Fallowfield, L, Jenkins, V, Gandhi, A, Evans, DG, George, A, Hubank, M, Kemp, Z, Bremner, S & Turnbull, C 2024, 'BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial', British Journal of Cancer, vol. 131, no. 9, pp. 1506-1515. https://doi.org/10.1038/s41416-024-02832-2

TY - JOUR

T1 - BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting

T2 - a randomised, non-inferiority trial

AU - Torr, Bethany

AU - Kavanaugh, Grace

AU - Hamill, Monica

AU - Allen, Sophie

AU - Choi, Subin

AU - Garrett, Alice

AU - Valganon-Petrizan, Mikel

AU - MacMahon, Suzanne

AU - Yuan, Lina

AU - Way, Rosalind

AU - Harder, Helena

AU - Gold, Rochelle

AU - Taylor, Amy

AU - Gabe, Rhian

AU - Lucassen, Anneke

AU - Manchanda, Ranjit

AU - Fallowfield, Lesley

AU - Jenkins, Valerie

AU - Gandhi, Ashu

AU - Evans, D Gareth

AU - George, Angela

AU - Hubank, Michael

AU - Kemp, Zoe

AU - Bremner, Stephen

AU - Turnbull, Clare

PY - 2024/11

Y1 - 2024/11

N2 - BACKGROUND: Genetic testing to identify germline high-risk pathogenic variants in breast cancer susceptibility genes is increasingly part of the breast cancer diagnostic pathway. Novel patient-centred pathways may offer opportunity to expand capacity and reduce turnaround time.METHODS: We recruited 1140 women with unselected breast cancer to undergo germline genetic testing through the BRCA-DIRECT pathway (which includes a digital platform, postal saliva sampling and a genetic counsellor telephone helpline). Ahead of consenting to the test, participants were randomised to receive information about genetic testing digitally (569/1140, 49.9%) or via a pre-test genetic counselling consultation (571/1140, 50.1%).RESULTS: 1001 (87.8%) participants progressed to receive their pre-test information and consented to testing. The primary outcome, uptake of genetic testing, was higher amongst participants randomised to receive digital information compared with those randomised to a pre-test genetic counselling consultation (90.8% (95% CI: 88.5% to 93.1%) vs 84.7% (95% CI: 81.8% to 87.6%), p = 0.002, adjusted for participant age and site). Non-inferiority was observed in relation to patient knowledge, anxiety, and satisfaction.CONCLUSIONS: Findings demonstrate that standardised, digital information offers a non-inferior alternative to conventional genetic counselling, and an end-to-end patient-centred, digital pathway (supported by genetic counselling hotline) could feasibly be implemented into breast oncology settings.CLINICAL TRIAL REGISTRATION: The study is registered with, and protocol available on, ClinicalTrials.gov (NCT04842799).

AB - BACKGROUND: Genetic testing to identify germline high-risk pathogenic variants in breast cancer susceptibility genes is increasingly part of the breast cancer diagnostic pathway. Novel patient-centred pathways may offer opportunity to expand capacity and reduce turnaround time.METHODS: We recruited 1140 women with unselected breast cancer to undergo germline genetic testing through the BRCA-DIRECT pathway (which includes a digital platform, postal saliva sampling and a genetic counsellor telephone helpline). Ahead of consenting to the test, participants were randomised to receive information about genetic testing digitally (569/1140, 49.9%) or via a pre-test genetic counselling consultation (571/1140, 50.1%).RESULTS: 1001 (87.8%) participants progressed to receive their pre-test information and consented to testing. The primary outcome, uptake of genetic testing, was higher amongst participants randomised to receive digital information compared with those randomised to a pre-test genetic counselling consultation (90.8% (95% CI: 88.5% to 93.1%) vs 84.7% (95% CI: 81.8% to 87.6%), p = 0.002, adjusted for participant age and site). Non-inferiority was observed in relation to patient knowledge, anxiety, and satisfaction.CONCLUSIONS: Findings demonstrate that standardised, digital information offers a non-inferior alternative to conventional genetic counselling, and an end-to-end patient-centred, digital pathway (supported by genetic counselling hotline) could feasibly be implemented into breast oncology settings.CLINICAL TRIAL REGISTRATION: The study is registered with, and protocol available on, ClinicalTrials.gov (NCT04842799).

KW - Humans

KW - Female

KW - Breast Neoplasms/genetics

KW - Genetic Testing/methods

KW - Middle Aged

KW - Germ-Line Mutation

KW - United Kingdom

KW - Adult

KW - Genetic Counseling/methods

KW - BRCA1 Protein/genetics

KW - BRCA2 Protein/genetics

KW - Genetic Predisposition to Disease

KW - Aged

U2 - 10.1038/s41416-024-02832-2

DO - 10.1038/s41416-024-02832-2

M3 - Article

C2 - 39349619

SN - 0007-0920

VL - 131

SP - 1506

EP - 1515

JO - British Journal of Cancer

JF - British Journal of Cancer

IS - 9

ER -

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

Abstract

Keywords

UN SDGs

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