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Assessing Genetic Risk in Primary Care May Lead to Earlier Diagnosis for Patients at Risk for Prostate Cancer

By: Sarah Lynch
Posted: Monday, September 12, 2022

A team of researchers at the University of Exeter, United Kingdom, conducted a study to evaluate the utility of considering genetic risk and family history in the early diagnosis of prostate cancer. According to Harry D. Green, PhD, of the University of Exeter, incorporating genetic risk in general practice may not only improve referrals for appropriate individuals, but it may also help to avoid invasive biopsies for those at low risk for prostate cancer. These findings were published in the British Journal of Cancer.

“Our study is the first to demonstrate that incorporating genetic risk into [general practitioners’] risk assessment of patients’ symptoms of possible prostate cancer could result in faster referral for those at most risk,” Dr. Green commented in an institutional press release. “The ideal place for an integrated risk model in primary care would be as [a] stratification tool to support [general practitioners’] decision-making for patients with lower urinary tract symptoms, perhaps in deciding when to offer a prostate-specific antigen test,” the study authors indicated.

The study calculated a genetic risk score for prostate cancer using the 269 known established genetic variants linked to the disease. A genetic risk score was associated with prostate cancer in symptomatic men (odds ratio per standard deviation increase = 2.12 [1.86–2.41]). An integrated risk model including age and risk score was applied to the symptomatic patients with cancer. The investigators applied this to data from 6,390 White European men from the UK Biobank. Patients included those who had experienced any symptoms such as incontinence, nocturia, hesitancy, frequency, urgency, retention, poor stream, double voiding, or a general code of lower urinary tract symptoms; patients in the symptomatic group were also diagnosed within 2 years of the index date. In the highest quintile for risk, the incidence of prostate cancer was 8.1%. In the lowest risk quintile, the incidence of prostate cancer was less than 1.0%.

Disclosure: For full disclosures of the study authors, visit

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