Approved Research

Investigating the clinical utility of polygenic risk scores in investigating patients with symptoms of possible cancer in primary care

Lay summary

Aim: to find out if information about a person's genetic risk of cancer can help people with cancer be diagnosed sooner after they see they doctor with symptoms.

Scientific rationale: Lots of research studies have identified variations in the human genome which mean that a person may be more likely to develop certain types of cancer in their lifetime. Most people with cancer are diagnosed after they see their family doctor with symptoms. Doctors make decisions about which patients should be referred and investigated for possible cancer based on what symptoms they have. Genetic cancer risk information is not available to family doctors, and it is not taken into account in the decision-making process. In this study, we will use genetic information linked to electronic health records to find out of knowing about genetic risk of cancer could mean that cancer is diagnosed earlier, when there are better treatment options, and when the chance of being cured is higher.

Project duration: We have decided to study prostate cancer first, out of all possible cancers. This is because it has a strong genetic cause, and also because the only test that family doctors have available to them to investigate symptoms of prostate cancer is the prostate specific antigen (PSA) test. This test, which measures levels of PSA in the blood, is not very good at identifying men with cancer. We anticipate that this study will take up to 12 months to complete. If it is successful, we will repeat the study for other cancer types too. We will also investigate what patients and doctors think about using genetic information in this way, and how it could be combined with other information that doctors use to make decisions.

Public health impact: the NHS Long Term Plan aims for 3 out of every 4 cancers to be diagnosed at an early (thus treatable) stage by 2028. This won't be possible without making big changes to how we currently diagnose cancer. Being able to identify people who are most likely to have cancer, so they can be very quicky investigated, is very important to achieve that goal. About 48,000 men are diagnosed with prostate cancer every year.