A New Era in Prostate Cancer Screening: Personalized Early Diagnosis with Genetic Risk Score (PRS)

1. Why is Prostate Cancer Important?

Approximately 1.5 million men are diagnosed with prostate cancer each year, and this disease is one of the most common types of cancer in men after skin cancer. When diagnosed at an early stage, the 5-year survival rate is close to 100%, while in late diagnosis, this rate drops below 50%. Therefore, early diagnosis is life-saving in prostate cancer.

2. Limitations of Traditional Screening Methods

Although the most widely used screening test today is PSA (prostate-specific antigen), this test has limited sensitivity. False positivity, unnecessary biopsies and missed early-stage cases lead to serious problems.

3. What is Polygenic Risk Score (PRS)?

The Polygenic Risk Score (PRS) is a risk score calculated based on the total effect of more than 100 genetic variants (SNPs) in an individual’s DNA that have been identified as being associated with prostate cancer. This score:

Reflects the individual’s hereditary risk level.
Valid for life (DNA does not change over time).
Effective in identifying individuals with normal PSA levels but high genetic risk.

4. BARCODE1 Study: Clinical Impact of PRS

The UK-based BARCODE1 study, published in the New England Journal of Medicine in April 2025, performed targeted prostate cancer screening by calculating PRS in male individuals aged 55-69.

5. Prominent Findings of the Study:

Of the 6,393 individuals who underwent genetic testing, 745 individuals with the highest 10% PRS score were included in further screening.
468 individuals underwent MRI and biopsy; prostate cancer was detected in 40% of them.
55% of the detected cases had clinically significant (Gleason score ≥7) cancer.
Significant cancer was detected even in individuals with normal PSA levels (more than 63% PSA ≤3 ng/mL).

This study has revealed that traditional screening based solely on PSA and MRI data is significantly incomplete.

6. Can PRS Testing Be Performed Commercially?

Yes. Today, PRS analysis:

It is offered by some private companies in the US and Europe (Color Genomics, Myriad Genetics, Genomics PLC, etc.).
Although not yet widespread in Turkey, some genetic laboratories can offer PRS testing in collaboration with foreign countries.
The test is usually performed from a saliva or blood sample and the results are interpreted by experts.

7. Conclusion: The Door to Personal Screening is Opening

PRS points to a new era in prostate cancer screening. This score:

Can detect genetically risky individuals early,
Can reduce unnecessary biopsies and treatments,
Increases effectiveness when used with tests such as PSA and MRI.
PRS is a promising tool in individualizing prostate cancer screening. As science progresses, our screening strategies will become more rational and targeted.

8. Note

It is recommended that you seek advice from a medical geneticist or an oncology specialist before having a PRS test.