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Direct to patient testing at cancer diagnosis for precision prevention-2 (DETECT-2): protocol for a 2-arm equivalence
Caitlin T Fierheller1, Priyanka Deshmukh2, Ashwin Kalra1
1Queen Mary University of London, Wolfson Institute of Population Health, London UK.
Background:
Mainstreaming patients with ovarian, endometrial, and colorectal cancer in the context of genetic testing at cancer diagnosis involves pre-test counseling, consent, and return of results by the clinical cancer team. This process uses significant clinician time and resources. Alternative implementation strategies might be more cost-efficient and better utilize limited cancer health professional and genetics workforce resources, but their efficacy is less well understood.
Primary Objective:
To determine if direct-to-patient genetic testing for ovarian, endometrial, and colorectal cancer has equivalent uptake of genetic testing compared with mainstreaming.
Study Hypothesis:
Patients at ovarian, endometrial, or colorectal cancer diagnosis have equivalent uptake for genetic testing through direct-to-patient compared with mainstreaming.
Trial Design:
A multicenter randomized controlled trial evaluating a digitally enabled direct-to-patient (saliva-based, at home) genetic testing approach (intervention arm) compared with mainstreaming genetic testing (control arm). After study consent and randomization, patients in the direct-to-patient arm are offered access to an app-based decision aid, consent to genetic testing via the app, and access to a helpline for additional support and counseling if needed. Control arm participants are offered routine mainstreaming genetic testing in the clinic. We include a qualitative sub-study of 1:1 interviews to understand the attitudes, experiences, and impact on emotional well-being of patients undergoing genetic testing.
Major Inclusion/Exclusion Criteria:
Inclusion criteria include diagnosis of ovarian, endometrial, or colorectal cancer fulfilling the National Health Service clinical genetic testing criteria. Exclusion criteria include prior genetic testing for or a known familial pathogenic variant in ovarian, endometrial, or colorectal cancer susceptibility genes.
Primary Endpoint:
Absolute difference in uptake of genetic testing between arms in the intention-to-treat population, with equivalence determined using a 10% margin based on a 2-sided 95% confidence interval.
Sample Size:
Target n = 626 to 832 patients. We will test equivalence if ≥626 patients are recruited in the intention-to-treat population.
Estimated Date For Completing Accrual And Presenting Results:
Recruitment by December 2026 and publication of results in 2028.
Trial Registration:
ISRCTN:57402067 (July 26, 2023). (https://doi.org/10.1186/ISRCTN57402067).
