CONSIDERING genetic risk when visiting a general practitioner (GP) could mean that males with a high risk of prostate cancer (PCa) could be fast-tracked for investigation, while avoiding invasive biopsies for low-risk patients.
Approximately 52,000 males are diagnosed with PCa every year in the UK, and it is the second most common cause of death from cancer in males. However, the symptoms are common and are easily misdiagnosed, leading to many males being diagnosed in an advanced stage. If diagnoses were made at an early stage, approximately 14% of deaths could be avoided. Furthermore, the 5-year survival rate is doubled in males who were diagnosed at an early stage.
Every year in the UK, GPs refer 800,000 males with suspected PCa for investigation; however, the prostate specific antigen (PSA) test, which is currently used for determining PCa risk, is not accurate and false positives are common. One in three males with a positive PSA will have cancer, but an invasive biopsy is needed for diagnosis. Further, the PSA test misses 15% of cancers.
However, a research team from the University of Exeter Medical School, UK, has concluded that including genetic risk into the GP triage could lead to 160,000 males being fast-tracked into investigation. Meanwhile, 320,000 males could avoid referral altogether.
In a large-scale study, researchers from the University of Exeter Medical School combined 250 known genetic variants that are linked to PCa and calculated the genetic risk for PCa to create a ‘genetic risk score’. This score, when used in general practice, should provide an idea of how likely a patient is to develop PCa. The researchers then applied this to data from 6,390 White European males, supplied by the UK Biobank (Stockport, UK), who had visited their GP with potential PCa symptoms.
Lead investigator Sarah Bailey, Senior Research Fellow at the University of Exeter Medical School, believes that this is an “exciting new strategy for early cancer detection.” She noted: “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 National Health Service [NHS] Long Term Plan, which pledges to become the first national health care system to offer whole genome sequencing as part of routine care.”
