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

Considering genetic risk in patients could lead to earlier prostate cancer diagnosis
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A new study from the University of Exeter has suggested that considering a patient’s genetics could lead to an earlier prostate cancer diagnosis. Men at the highest risk could now be fast-tracked for investigation.

The study, which was published in the British Journal of Cancer, examined the effects of incorporating the genetic risk of cancer into the GP triage and referral process. The research found that considering the genetic risk of the individual could improve referral for those in need of treatment and lead to earlier prostate cancer diagnosis. This could also help those at low risk of cancer avoid invasive biopsy investigations.  

Prostate cancer in the UK

Prostate cancer diagnoses account for around a quarter of all new cancers diagnosed in men each year , in the UK. Approximately 52,000 men are diagnosed yearly, and it is the second highest cause of death in men in the UK. However, five-year survival rates double if the prostate cancer diagnosis is made in the early stages. Symptoms are common and can be easily misdiagnosed; it is estimated that 14% of deaths in the UK could have been avoided with an earlier prostate cancer diagnosis 

Around 800,000 suspected prostate cancer diagnoses are made each year by GPs in the UK. The research team at the University of Exeter estimates that incorporating genetic risk into GP triage could lead to faster treatment for 160,000 men annually, and a further 320,000 of these could avoid referral and invasive biopsy. 

Why a new approach to prostate cancer diagnosis is needed  

“Our study is the first to demonstrate that incorporating genetic risk into GP’s risk assessment of patients’ symptoms of possible prostate cancer could result in faster referral for those at most risk,” said Dr Harry Green, lead author, and independent Research Fellow at the University of Exeter Medical School. 

Currently, a prostate Specific Antigen (PSA) test is used to investigate men with urination problems or erectile dysfunction. Unfortunately, PSA’s are not always accurate, and false positive results are for prostate cancer diagnosis are common. Two out of three men with a positive PSA test will not have cancer, and an unpleasant biopsy is needed for a correct prostate cancer diagnosis. Research also shows that PSA tests can miss up to 15% of cancers. 

The researchers calculated the genetic risk for prostate cancer by examining 250 known genetic variants linked to the disease. These variants were combined into a single ‘genetic risk score’, which can be used to assess an individual’s risk of having receiving a prostate cancer diagnosis. This data was applied to 6,390 White European men from UK Biobank, whose records showed they had been referred to a GP for potential prostate cancer diagnosis. 

The study’s lead investigator, Dr Sarah Bailey, Senior Research Fellow at the University of Exeter Medical School, said: “This is potentially an exciting new strategy for early cancer detection. Using this technique would align well to the NHS Long Term Plan, which pledges to become the first national health care system to offer whole genome sequencing as part of routine care. This could be a clear example of improving early diagnosis, and therefore treatment and survival”. 


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