BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial.
Journal
British journal of cancer
ISSN: 1532-1827
Titre abrégé: Br J Cancer
Pays: England
ID NLM: 0370635
Informations de publication
Date de publication:
01 Oct 2024
01 Oct 2024
Historique:
received:
10
05
2024
accepted:
19
08
2024
revised:
13
08
2024
medline:
1
10
2024
pubmed:
1
10
2024
entrez:
30
9
2024
Statut:
aheadofprint
Résumé
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. 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%). 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. 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. The study is registered with, and protocol available on, ClinicalTrials.gov (NCT04842799).
Sections du résumé
BACKGROUND
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
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
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
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
BACKGROUND
The study is registered with, and protocol available on, ClinicalTrials.gov (NCT04842799).
Identifiants
pubmed: 39349619
doi: 10.1038/s41416-024-02832-2
pii: 10.1038/s41416-024-02832-2
doi:
Banques de données
ClinicalTrials.gov
['NCT04842799']
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Organisme : Cancer Research UK (CRUK)
ID : C61296/A29423
Informations de copyright
© 2024. The Author(s).
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