A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
genetic counseling
genetic predisposition to disease
genetic testing
genetics
health care facilities, manpower, and services
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
received:
25
04
2022
accepted:
03
07
2022
pubmed:
23
7
2022
medline:
25
11
2022
entrez:
22
7
2022
Statut:
ppublish
Résumé
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. We designed a rapid, digital pathway, supported by a genetics specialist hotline, for delivery of germline testing of 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. 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. ISRCTN87845055.
Sections du résumé
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
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.
Identifiants
pubmed: 35868849
pii: jmg-2022-108655
doi: 10.1136/jmg-2022-108655
pmc: PMC9691828
doi:
Banques de données
ISRCTN
['ISRCTN87845055']
Types de publication
Randomized Controlled Trial
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1179-1188Subventions
Organisme : Cancer Research UK
ID : C61296/A29423
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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