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

Bethany Torr, Christopher Jones, 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, Bethany Torr, Christopher Jones, 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

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.

Keywords: genetic counseling; genetic predisposition to disease; genetic testing; genetics; health care facilities, manpower, and services.

Conflict of interest statement

Competing interests: None declared.

© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.

Figures

Figure 1
Figure 1
The BRCA-DIRECT full study pathway, including COVID-19 adaptations to minimise aerosol generating procedures (stripped grey). Light grey: study-specific procedures, including enrolment activities and study questionnaires. Light green: BRCA-DIRECT digital pathway core activities. Dark green: fully digital pathway with delivery of pretest information digitally. Blue: partially digital comparator arm with delivery of pretest information via telephone consultation with a genetics professional. VUS, variants of uncertain significance.
Figure 2
Figure 2
Consolidated Standards of Reporting Trials flow chart detailing patient progression through the BRCA-DIRECT pilot study, including number of patients included in analysis at each stage, separated by pretest information randomisation allocation following enrolment. Light green: study-specific outcome measures. Dark green: digital pretest information (fully digital arm). Dark blue: telephone pretest information (partially digital arm). Light blue: standard pathway procedures. See online supplemental figure 3 for more detail on patient progression and reasons for withdrawal or exclusions at each stage.
Figure 3
Figure 3
Patient-reported satisfaction and convenience. Patient Satisfaction Survey (PSS) completed by 100/130. Patient-reported convenience (1 not convenient–5 very convenient) and satisfaction (1 not satisfied–5 very satisfied). Digital (green) or telephone appointment (blue) delivery of pretest information (as per 1:1 randomisation) or results (as per random pre-allocation to telephone appointment for 2.5% of patients, plus for all patients receiving a variant of uncertain significance (VUS) or positive (pathogenic) result regardless of pre-allocation).

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