Prostate cancer polygenic risk score test

AntePC is a clinical test registered as a CE-marked medical device (in vitro diagnostics, IVD) in the EUDAMED database (UDI-DI: 04745010362040), in the Estonian Medical Devices Database (EMDDB code: 14952), and the UK MHRA Registry (GMDN code: 63668).

The test results provide information about the individual’s polygenic risk level for prostate cancer. This includes a prostate cancer-specific PRS value, the absolute risk for prostate cancer in the next 10 years, and the relative risk in comparison to other men in the same age group and population on average.

Depending on the application, the test report may include individual clinical recommendations to reduce the risk of developing prostate cancer such as:

• What age the individual should start prostate cancer screening and how
• Whether the individual should take additional measures to prevent prostate cancer
• What possible changes and symptoms regarding his prostate should the individual focus on.

The purpose of the AntePC test is to reduce the risk of premature mortality from prostate cancer. It provides precise prostate cancer screening and additional preventive measures. Prostate cancer risk stratification increases the precision and efficiency of methods in prostate cancer prevention. The AntePC test incorporates PRS technology into screening programs, enabling targeted recommendations for more efficient primary and secondary prevention.

For the PRS calculation, AntePC uses the patient’s DNA data from genotyping and summarises the impact of 121 prostate cancer-related single nucleotide polymorphisms (SNPs).

To develop the AntePC test, different PRSs and their risk differentiation estimations were validated using anonymous data from the Estonian Biobank and UK Biobank. Based on large-scale genetic data, various risk prediction models published in the international scientific literature were compared. The prediction accuracy of the best-performing model was evaluated on independent data and developed further for the test (1). The PRS underlying AntePC is adapted and independently validated for practical use based on the report by Schumacher et al. (2).

The test is based on genome-wide association studies of patients and study participants of primarily European ancestry. However, the test is adapted to other ethnicities based on the analyses of risk performance in the ethnically diverse UK Biobank data.

AntePC has been developed by the health-tech company Antegenes and is performed by Antegenes’ medical lab.

• AntePC cannot be used to diagnose prostate cancer.
• High risk does not necessarily mean that the patient will develop prostate cancer during his lifetime.
• Moderate or lower risk does not necessarily mean that the patient will never develop prostate cancer during his lifetime.
• AntePC test results are individual and patient specific. The AntePC test does not assess the risk for the patient’s family members or relatives. The inheritance pattern of PRS is complex and each person has to be tested separately.
• AntePC does not analyse rare monogenic pathogenic variants in genes that significantly increase the risk of prostate cancer, such as BRCA1, BRCA2, ATM, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, and others. If a man’s biological relative has a monogenic pathogenic variant in these genes, or if a man has several prostate, breast, or ovarian cancer cases in his family, Antegenes recommends additional counselling and testing for such monogenic variants.
• AntePC test is based on the most recent scientific data, which may be supplemented and/or changed in the future if additional information becomes available. The field of genetics is constantly evolving, which may lead to changes in risk assessments over time, changes in test selection, and clinical recommendations.
• Different polygenic risk scores predicting risks of the same trait may give different estimates of the individual’s risks due to differences in the genetic variants included in these models and their weights.
• The results of this test should be applied in combination with other relevant clinical data. In addition to genetic predisposition, other risk factors influence the risk of developing prostate cancer.