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.


BRCA-DIRECT Telephone Hotline
A telephone hotline was available for patients 9am-to-5pm, Monday-to-Friday (excluding public holidays). The hotline was staffed by genetics professionals (genetic counsellor, onco-genetics specialist nurse or clinical geneticist) to support with calls requiring specialist knowledge about genetic testing and/or the results. Research administrators were also available to support with technical or administrative calls only.
Details of the telephone hotline were widely visible within the BRCA-DIRECT digital platform and across study materials available to patients from initial approach about BRCA-DIRECT. All calls to the hotline were logged via the BRCA-DIRECT platform with the following details recorded: date of call, length of call, call handler and freehand notes.

BRCA-DIRECT Digital Platform
The BRCA-DIRECT digital platform consisted of a custom-built database and website  explanation. Progression and access to specific steps was automated based on (i) timing, (ii) confirmed completion of a previous step, or (iii) administrative update.

BRCA-DIRECT digital pre-test information
Digital pre-test information was developed to be of equivalent content and depth to a standard genetic counselling appointment. The materials were developed by the study team and evolved for language, content and presentation via iterative consultation with our clinical and patient user-groups. The final package comprised 21 static screens of written information and schematics. These included 13 core screens covering topics such as genetic inheritance, cancer risk and the process of BRCA-testing and seven screens entitled "more detailed information", which addressed insurance, options for risk reduction and oncogenesis (Appendix 1).
After viewing all screens, patients were advised to contact the genetic specialist hotline if they required additional support with understanding the information and were required to confirm they had received the pre-test information before proceeding to the digital genetic test consent form.

Digital genetic test consent
The genetic test consent form was designed to reflect directly the contents of the 'Record of Discussion Regarding Genomic Testing' used in the UK NHS Genomic Medicine Service, and evolved following consultation with our clinical and patient usergroups.
The digital consent form required participants to mark that they had read and confirmed each statement, followed by typing a digital signature and confirming the date. A confirmatory pop-up notice was required to be acknowledged by the patient upon submission on the form. After confirmation, a PDF copy of the consent form was 6 made available for the patient to download. A copy was also sent to the patients GP and added to the hospital medical record.

Return of BRCA-test results
Availability of results was communicated to the patient from the BRCA-DIRECT platform via SMS and/or email and, upon login to the platform, the patient received their result either digitally via the BRCA-DIRECT platform or was invited to book a 1:1 telephone consultation with a genetics professional (half-day telephone slots (9am-12pm or 1pm-4pm) available from the following day).
Participants were pre-allocated to receive results digitally (97.5%) or via telephone consultation (2.5%) using the on-line Sealed Envelope TM randomisation list generator. [5] All those with a negative result received their result according to the pre-