DETECT-2

Status: Open

Specialty: Gynae

Date Opened: 09/07/2025

Planned Close Date: unknown

Sponsor: Queen Mary University of London

Principal Investigator: Gemma Owens

Study Title: Direct to Patient Testing at Cancer Diagnosis for Precision Prevention-2

All patients who are diagnosed with womb, bowel, or ovary cancer are recommended to have genetic-testing to see if their cancer was related to an inherited gene alteration. Identifying carriers of alterations allows novel personalised cancer treatments, prevention of second cancers, and testing of family members for cancer screening and prevention.

Genetic testing requires pre-test counselling to ensure patients are informed about the impact of having a genetic test and managing the result. This ‘genetic-counselling’ has traditionally been provided by genetics services. However, it is now routinely being offered by cancer-treating teams in an approach called “mainstreaming”. Currently, the demand for genetic counselling and testing is swiftly increasing and capacity constraints requires development of new scalable cost and resource efficient implementation models.

The DETECT-2 study will assess if pre-test counselling and genetic-testing can be done using a direct-to-patient model. In this model, participants will receive genetic testing information on a smart-phone app or website that they can access at home along-with counselling support through a study telephone helpline. Those who agree to testing can consent via the app and perform testing at home by a saliva genetic testing kit delivered and returned by post. In the study this direct-to-patient approach is directly compared to the standard mainstreaming approach in a randomized trial. Cancer patients who are eligible for genetic testing under current NHS criteria will be recruited to the study from NHS hospitals. The web-app is an information giving support aid.

The study compares and evaluates the uptake of genetic testing using both approaches. We also assess patient satisfaction, quality-of-life, and psychological outcomes following testing, using standardized or customized questionnaires over one year. Clinician opinions will be elicited. Some patients will also be interviewed to assess attitudes, experiences, and impact on emotional wellbeing. An economic analysis will be undertaken to assess the cost-effectiveness of this approach for the NHS.