Patients diagnosed with colorectal, endometrial, or ovarian cancer eligible for genetic testing for cancer susceptibility gene variants Cancer
Conditions
Interventions
Eligible patients undergo block randomisation (1:1, stratified by cancer type) at recruitment to one of the two study arms:
1. Direct-to-patient testing: Patients will be provided information about g
Sponsors
Queen Mary University of London
Eligibility
Sex/Gender
All
Age
18 Years to 100 Years
Inclusion criteria
Inclusion criteria: 1. Adults diagnosed with endometrial cancer or colorectal cancer fulfilling NHS clinical genetic testing criteria for mismatch repair genes based on clinical or histo-pathological molecular profile or 2. Adults diagnosed with high-grade epithelial ovarian cancer fulfilling NHS clinical genetic testing criteria
Exclusion criteria
Exclusion criteria: Current exclusion criteria as of 09/05/2024: 1. Patients who have had previous genetic testing for Lynch Syndrome, OC, or CRC genes 2. Patients whose family has a known pathogenic variant in a cancer susceptibility gene, which is part of the panel the patient is eligible for undergoing testing. 3. Unable to provide informed consent _____ Previous exclusion criteria: 1. Patients who have had previous genetic testing for Lynch Syndrome, or OC genes 2. Patients whose family has a known pathogenic variant in one of the following genes: BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2, MLH1, MSH2, MSH6, PMS2 3. Unable to provide informed consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Uptake of genetic testing between the direct-to-patient genetic testing arm versus standard mainstreaming. Uptake of genetic testing will be assessed by equivalency at the end of the study (each event is recorded at decision to test and equivalence is calculated at the end of the study). | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Decision satisfaction or regret assessed by the 5-item Decision Regret Scale (O'Connor) assessed up to 1 year following return of genetic test results 2. Mental health and emotional outcomes measured by the Hospital Anxiety and Depression Scale, 1-item "I am satisfied with the decision I have made" 5-point Likert scale, Impact of Events Scale, and Multidimensional Impact of Cancer Risk Assessment measured at baseline (if relevant) and up to 1 year following the return of genetic test results. 3. Participant quality-of-life assessed by EuroQol EQ-5D-5L questionnaire, validated cancer-specific and general cancer EORTC questionnaires at baseline and after genetic testing up to 1 year following the return of genetic test results 4. Attitudes, experiences, and impact on emotional health assessed by semi-structured qualitative interviews at 1-6 months after receiving the genetic testing result 5. Decision aid and telephone helpline use in direct-to-patient testing pathway assessed by participant usage statistics collected by the web app and telephone helpline usage case report forms for all participants in the DTP arm at decision to test, 21 days post result and 6 months post result 6. Variant prevalence measured by the number of pathogenic/likely-pathogenic variants/variant of uncertain significance detected divided by the number of people undergoing genetic testing at the end of the study 7. Cost-effectiveness of both testing approaches will be assessed by incremental cost-effectiveness ratio (ICER/QALY) between the two study arms assessed against the willingness-to-pay threshold stipulated by NICE (£20,000-30,000/QALY) at the end of the study 8. Clinician experience of direct-to-patient testing pathway measured using a bespoke clinician questionnaire administered to participating clinicians once a site is set up and operating | — |
Countries
England, Northern Ireland, Scotland, United Kingdom
Outcome results
None listed