Polygenic risk scores could help GPs decide which patients to refer for prostate biopsies.
Prostate cancer accounts for around a quarter of all new cancers in UK men. However, the symptoms overlap with common, less serious conditions, and so it can be difficult to diagnose. The existing prostate specific antigen (PSA) test can miss 15 percent of cases and also provides around 2 false positives for every man who does have cancer. This means that more men than necessary are going on to the next diagnostic stage, where a biopsy is taken.
'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 lead author Dr Harry Green.
Prostate cancer causes the second-highest number of cancer deaths among UK men, but early diagnosis can significantly increase the patient's chance of survival. It is known to have a genetic component, as men whose father or brother are affected have a 2.5-fold increase in risk compared to the general population. Men who carry BRCA mutations can also be at increased risk (see BioNews 1130).
The researchers created a polygenic score using 269 genetic variants known to affect the risk of developing prostate cancer. The study used UK BioBank data linked to primary care records for almost 6400 men who had seen a GP with symptoms that could be linked to prostate cancer.
They found the polygenic score, in combination with age data, was predictive of which men (who already had symptoms) would go on to be diagnosed with prostate cancer within two years of consulting their GP.
Of the 800,000 men with suspected prostate cancer seen by GPs every year, the authors think 160,000 could be fast-tracked for further investigation using their approach, while 320,000 could be spared a biopsy.
Dr Sarah Bailey, who led the research, said: 'This is potentially an exciting new strategy for early cancer detection. Not only can high-risk patients be fast-tracked, but those at low risk can safely avoid invasive investigations. This could be a clear example of improving early diagnosis, and therefore treatment and survival'.
One limitation of the research, which was published in the British Journal of Cancer, was that while the polygenic score was created using evidence from studies of people with various ethnic backgrounds, it was only tested against records from men of white European heritage.
Sources and References
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Applying a genetic risk score for prostate cancer to men with lower urinary tract symptoms in primary care to predict prostate cancer diagnosis: a cohort study in the UK Biobank
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Considering genetic risk in prostate cancer referrals could lead to earlier diagnosis
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Considering genetic risk ‘could improve prostate cancer referral process’
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Genetic links can help men with higher risk of prostate cancer get early diagnosis, research suggests
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