Determining the role of genetic risk scores in symptomatic cancer detection

Improving cancer diagnosis is a national priority in the UK, with the NHS Long Term Plan pledging to increase the percentage of cancers found at an early stage from 50% to 75% by 2028.1 Patients with cancer diagnosed at an early stage generally have better outcomes and longer survival. Most cancers in the UK are diagnosed following a symptomatic presentation to primary care, with over 80% of patients with cancer seeing their GP in the year before diagnosis.2 National screening programmes are available for breast, colorectal, and cervical cancer, but identify only 5% of cases.3 A lung cancer screening programme has recently been approved in the UK.

GPs select patients for referral based on presenting clinical features; individual or combinations of features representing a 3% or greater chance of cancer should trigger urgent investigation.4 For patients with features in the 1%–2% risk category, triage tests to further inform clinical judgement include general or cancer-specific blood tests, imaging, or faecal immunochemical tests, which identify haemoglobin in a faeces sample. National Institute for Health and Care Excellence (NICE) guidance NG12 recommends certain investigations and referrals based on the suspected site of malignancy;4 those recommendations are based on clinical features alone, and do not account for genetic risk of cancer or any other factors that make cancer more likely to develop (other than age, which is used to stratify some of …

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