Incorporating testing for genetic risk for prostate cancer into GP triage and referral processes could lead to earlier diagnosis, researchers say today.
A new, large-scale study by the University of Exeter, published in the British Journal of Cancer, concludes that considering genetic risk could improve referrals for those in need and would also avoid invasive biopsy investigations for those at low risk of cancer.
GPs make about 800,000 suspected prostate cancer referrals annually in the UK and the researchers estimate that incorporating genetic risk for cancer into GP triage could result in 160,000 men being fast-tracked for investigation, while 320,000 of these could safely avoid referral.
Lead author Dr Harry Green, independent research fellow at the University of Exeter Medical School, said: “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.”
The team used more than 250 known genetic variants linked to prostate cancer to calculate genetic risk. These genetic variants are combined into a single ‘genetic risk score’ which describes an individual’s genetic risk of developing prostate cancer.
They went on to apply this data from 6,390 white European men from UK Biobank, whose records showed they had seen a GP with potential prostate cancer symptoms.
They say this is more accurate that the prostate specific antigen (PSA) test, which can yield false positive results. Only one in three men with a positive PSA test has cancer, but an invasive biopsy is often needed for diagnosis. The PSA test can also miss about 15% of cancers.
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. Not only can high risk patients be fast tracked, but those at low risk can safely avoid invasive investigations.
“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”.
Kirsten Higgins, whose family are long-term supporters of the University of Exeter, funded the study. She said: “We’re delighted to be able to support the Exeter team to explore the application of genomics data in a more targeted approach to prostate cancer detection. It’s very exciting to see the real world benefit to patients of this innovative new approach.”
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 18 August 2022
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