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

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

genetic counseling, genetic predisposition to disease, genetic testing, genetics, health care facilities, manpower, and services
0022-2593
1179-1188
Torr, Bethany
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Jones, Christopher
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Choi, Subin
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Allen, Sophie
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Kavanaugh, Grace
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Hamill, Monica
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Garrett, Alice
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MacMahon, Suzanne
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Loong, Lucy
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Reay, Alistair
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Yuan, Lina
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Valganon Petrizan, Mikel
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Monson, Kathryn
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Fallowfield, Lesley
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Gabe, Rhian
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Wiggins, Jennifer
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Lucassen, Anneke
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Hubank, Michael
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Bremner, Stephen
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Turnbull, Clare
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Torr, Bethany
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Jones, Christopher
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Allen, Sophie
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Kavanaugh, Grace
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Hamill, Monica
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Garrett, Alice
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Loong, Lucy
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Valganon Petrizan, Mikel
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Monson, Kathryn
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Fallowfield, Lesley
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Gabe, Rhian
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Wiggins, Jennifer
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Lucassen, Anneke
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Manchanda, Ranjit
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Gandhi, Ashu
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George, Angela
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Hubank, Michael
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Bremner, Stephen
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Turnbull, Clare
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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 and Turnbull, Clare (2022) A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot. Journal of Medical Genetics, 59 (12), 1179-1188. (doi:10.1136/jmg-2022-108655).

Record type: Article

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.

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Accepted/In Press date: 3 July 2022
e-pub ahead of print date: 22 July 2022
Published date: December 2022
Additional Information: Funding Information: This work was supported by Cancer Research UK (C61296/A29423). Publisher Copyright: © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.
Keywords: genetic counseling, genetic predisposition to disease, genetic testing, genetics, health care facilities, manpower, and services

Identifiers

Local EPrints ID: 469096
URI: http://eprints.soton.ac.uk/id/eprint/469096
DOI: doi:10.1136/jmg-2022-108655
ISSN: 0022-2593
PURE UUID: 0def2fb6-8b89-4743-a39a-f4ed3d44053c
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 06 Sep 2022 18:47
Last modified: 17 Mar 2024 02:54

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Contributors

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

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