Considering genetic risk in prostate cancer referrals could lead to earlier diagnosis

Written By :  Roshni Dhar
Medically Reviewed By :  Dr. Kamal Kant Kohli
Published On 2022-08-20 03:30 GMT   |   Update On 2022-08-20 08:53 GMT
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Prostate cancer accounts for around a quarter of new cancer cases in men-approximately 52,000 men are diagnosed per year in the UK alone. It is the second most common cause of cancer death in men in the UK, and five-year survival doubles if it's diagnosed at an early stage compared to advanced stage. Symptoms are common and easily misdiagnosed, and an estimated 14 per cent of prostate cancer deaths could be avoided if they were diagnosed earlier.

A large-scale study by the University of Exeter, published in the British Journal of Cancer, looked at the impact of incorporating genetic risk for cancer into the GP triage and referral processes. The research concluded that considering genetic risk could improve referrals for those in need-and importantly, avoid invasive biopsy investigations for those at low risk of cancer. Assessing genetic risk in primary care could lead to earlier diagnosis for men most at risk of prostate cancer.
The research team estimates that incorporating genetic risk for cancer into GP triage could mean 160,000 men could be expedited for faster investigation, while 320,000 of these could safely avoid referral and unpleasant investigation.
At the moment, a prostate Specific Antigen (PSA) test is used to investigate men with erectile dysfunction or urination problems, but the accuracy of the test is unclear, and false positive results are common. Only one in three men with a positive PSA test have cancer. An invasive and unpleasant biopsy is often needed for diagnosis. Research shows the PSA test can miss around 15 per cent of cancers.
The team calculated genetic risk for prostate cancer using more than 250 known genetic variants linked to the disease. These genetic variants are combined into a single 'genetic risk score' which describes an individual's genetic risk of developing prostate cancer. They applied this to data from 6,390 White European men from UK Biobank, whose records showed they had seen a GP with potential prostate cancer symptoms.
Ref:
Dr Harry Green et al, Applying a genetic risk score for prostate cancer to 2 men with lower urinary tract symptoms in primary 3 care to predict prostate cancer diagnosis: a cohort 4 study in the UK Biobank,British Journal of Cancer,10.1038/s41416-022-01918-z
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Article Source : British Journal of Cancer

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