Genetic risk score may reduce invasive prostate biopsies

2022 08 19 16 39 2982 Dna Sequence Analysis 400

Researchers at the University of Essex have developed genetic-risk criteria and a subsequent score for patients with prostate cancer symptoms, which could result in earlier diagnosis and reduce the need to perform invasive biopsy procedures for those who are at low risk.

In research published Thursday in the British Journal of Cancer, the U.K.-based researchers calculated genetic risk for prostate cancer by leveraging more than 250 known genetic variants that are commonly linked to the disease. These genetic variants were all combined to form a single genetic risk score that could then be used to assess an individual's genetic risk of developing prostate cancer.

The results of the study may have implications for older men in whom the symptoms of prostate cancer are fairly common; however, these symptoms may be an indication of something entirely different from cancer, leading to false diagnosis of the disease.

The researchers believe that this approach will give general practitioners (GPs) the ability to identify very low-risk men (with a less than 1 in 100 chance of developing prostate cancer) so they can avoid more intrusive testing. The criteria score will also give them the ability to identify those that are at high risk (with a 1 in 20 chance of developing prostate cancer).

The Essex researchers applied their genetic risk score data to data in UK Biobank (a long-term large biobank study) from 6,390 white European men whose records indicated that they had seen a GP with potential prostate cancer symptoms.

When the researchers extrapolated their findings out to all the patients of U.K. GPs, the numbers became quite impressive.

It is estimated that U.K. GPs meet with around 800,000 suspected prostate cancer referrals annually. The research team projected that if GPs incorporated genetic risk for cancer into their triage methodology, it could mean 160,000 men could be expedited for faster investigation, while 320,000 of these could safely avoid referral and unpleasant investigation.

"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," said Dr. Sarah Bailey, senior research fellow at the University of Exeter Medical School and lead investigator in the study, in a prepared statement. "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."

Patients who have gone through the process of confirming whether they had prostate cancer, but ultimately were shown to not have the disease, welcomed the new screening process as potentially life-altering.

Back in late 2015, Richard Westlake, now 74 years old, suffered through 18 months of anxiety after being falsely diagnosed with prostate cancer due to multiple night-time trips to the toilet and a raised PSA test, both symptoms of prostate cancer.

After Westlake was given a second intrusive biopsy in mid-2017, he was told that he did not have cancer. "I was quite surprised to be honest," said Westlake about the result in a statement, adding that he had "been through a very difficult time, with all that testing, waiting, unpleasantness and anxiety."

Page 1 of 8
Next Page