For Health Professionals

Background

Genetic testing at cancer diagnosis is now standard practice in the United Kingdom for eligible patients diagnosed with colorectal, endometrial, and ovarian cancer. This allows identification of carriers of pathogenic (or likely-pathogenic) variants in cancer susceptibility genes. Current national clinical standards for the management of ovarian , endometrial, and colorectal cancer recommend this practice.

Genetic testing has historically been performed by clinical genetics services. However, it is now standard practice for genetic testing at cancer diagnosis, for the above cancers, to be provided by members of cancer-treating teams in an approach called “mainstreaming”. Both of these approaches involve patients being counselled one-on-one regarding genetic testing by trained clinicians and having genetic testing in clinical settings. Currently, both these models are at capacity.

The DETECT-2 study is a randomised control trial studying a novel direct-to-patient pathway of offering genetic testing at cancer diagnosis compared to the current clinical standard of mainstreaming genetic testing for patients diagnosed with colorectal, endometrial, and ovarian cancer.

Direct-to-patient genetic testing may offer a convenient, scalable, resource-efficient, and patient-centric approach to genetic testing at cancer diagnosis. The DETECT-2 study will collect a wide variety of outcomes to assess the utility of this testing approach compared to the current standard of care and offer evidence for potential implementation in clinical practice in the future.