Clinical polygenic risk score testing for common cancers 

Antegenes provides innovative genetic tests for medical professionals, utilizing polygenic risk score (PRS) technology.

The tests assess an individual’s genetic risk for common cancers, including breast (AnteBC), prostate (AntePC), colorectal (AnteCRC), and skin melanoma (AnteMEL).

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Our goal is to lower cancer morbidity and mortality by offering screening and prevention tailored to individual genetic risks.

All tests are clinical tests registered as CE-marked medical devices (in vitro diagnostics, IVD) in the EUDAMED database, in the Estonian Medical Devices Database, and in the UK MHRA Registry (The Medicines and Healthcare products Regulatory Agency; ref no 26645), designed for use within professional healthcare services.

Polygenic risk score tests as CE-marked IVDs, regulatory compliant for clinical use in the European Union, United Kingdom, Norway.

  • Breast cancer polygenic risk score test AnteBC

    For women between the ages of 30-75

    Suitable for all ancestries

  • Prostate cancer polygenic risk score test AntePC

    For men between the ages of 40-70

    Suitable for all ancestries

  • Colorectal cancer polygenic risk score test AnteCRC

    For men and women between the ages of 40-75

    Suitable for all ancestries

  • Melanoma polygenic risk score test AnteMEL

    For men and women between the ages of 18-70

    Suitable for all ancestries

Trusted by healthcare institutions across Europe

Test results

Antegenes’ PRS test results provide information about the individual’s polygenic risk level for specific cancer. This includes a:

  • cancer specific PRS value
  • the absolute risk for specific cancer in the next 10 years, and
  • the relative risk in comparison to other individuals in the same age group and population on average.

To support clinical use, test reports also include clinical recommendations based on PRS risk levels for personalised cancer prevention, covering:

  • What age the individual should start specific cancer screening and how.
  • Whether the individual should take additional measures to prevent cancer.
  • What possible changes and symptoms the individual should look out for concerning these cancers.

Clinical recommendations are not part of the test as a CE-marked IVD but are additionally provided by Antegenes as an official licensed healthcare institution in the European Union. Other health professionals can modify these recommendations, taking into account, for example, other risk factors in addition to polygenic risk, if necessary.

View AnteBC sample report

Flexible solutions for clinical use

Our different options create the flexibility to implement PRS tests according to the needs of different healthcare institutions and healthcare systems, depending on whether appropriate genotyping or sequencing is available locally.

  • Genetic testing

    A comprehensive PRS test, including a DNA collection kit, genotyping, genetic analysis, and report generation, as CE-marked medical device (IVD).

  • Software as a service

    A PRS test only as CE-marked software as medical device – for the genetic analysis of already genotyped or sequenced data for PRS test report generation. This means that Antegenes’ tests can also be used in healthcare facilities only as CE-marked medical software if genotyping or sequencing is performed by an on-site laboratory.

Regulatory compliant

All tests are clinical tests registered as CE-marked medical devices (in vitro diagnostics, IVD) in the EUDAMED database, in the Estonian Medical Devices Database, and in the UK MHRA Registry (The Medicines and Healthcare products Regulatory Agency; ref no 26645), designed for use within professional healthcare services.

ISO 13485 certified In 2020 Antegenes OÜ received management system certificate ISO 13485:2016.
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Polygenic risk score technology

Polygenic risk score (PRS) technology refers to a quantitative measure that estimates an individual’s genetic susceptibility to developing certain types of common complex diseases, as common cancers, based on the aggregate effect of multiple genes.

This technology analyses variations (single nucleotide polymorphisms – SNPs) across many different genes, each contributing a small amount to the overall risk of developing cancer, but with their calculated cumulative effect, they provide significant differences in genetic predispositions.

PRSs are derived from large-scale genetic association studies, such as genome-wide association studies (GWAS), that identify common genetic variants associated with specific cancers. By summing up the effects of these variants, a PRS can provide an estimate of an individual’s risk of developing cancer compared to the general population.

Why, when and where to use polygenic risk score tests?

The use of polygenic risk score (PRS) genetic tests in clinical practice represents a modern standard of care in personalised medicine, supported by research data and clinical evidence from numerous studies.

The main use cases are:

  • Personalised management of healthy individuals with a familial history of cancers

    Personalised management of individuals with a familial history of cancers, including breast, colorectal, and prostate cancers, is increasingly critical in hereditary cancer clinics. Traditionally, this management has depended on risk estimations based on the testing for rare monogenic pathogenic variants and considering family history as the sole risk factor, or by employing combined risk estimation models. However, the advent and integration of PRS testing have revolutionised this approach.

    The PRS offers a nuanced risk estimation that is independent of familial history, providing vital insights into an individual’s predisposition to various cancers. This makes PRS testing an indispensable tool in the modern clinical setting, where precision medicine and personalised healthcare strategies are paramount.

    By incorporating PRS testing, healthcare practitioners can offer more accurate and tailored clinical recommendations, ensuring a proactive and preventative approach to preventive cancer management.

    Recommended for:

    • Hereditary cancer clinics
    • Medical geneticists’ practices
    • Genetic counsellors’ practices
    • Breast cancer specialists’ practices
    • Women’s clinics
  • Personalised Health Control and Prevention Services

    In today’s healthcare, there’s a push towards transcending generic disease screenings with tailored health assessments. Incorporating PRS testing is vital for precise, personalised health recommendations. PRS testing offers a distinct advantage by providing insights into genetic risks independent of family history. It allows for a refined understanding of an individual’s genetic predisposition, with many seeing a notable shift in their risk assessment with relevant follow-up preventive actions. This move towards more personalised evaluations marks a significant step in preventive healthcare, offering individuals more accurate, customised health advice and interventions.

    Recommended for:

    • All adult general health controls in medical practices
    • Corporate wellness programs
    • Longevity clinics and programs
  • Enhancement of Cancer Screening Programmes: Integrating Personalised Approaches for Breast, Colorectal, and Prostate Cancers

    Breast cancer screening

    Screening through mammography has demonstrated a reduction in breast cancer mortality by 20-40%. Nevertheless, existing breast cancer screening programmes are primarily predicated on age, generally excluding women under the age of 50 or 45 from regular screenings. The efficacy and potential drawbacks of screening women under 50 are subjects of ongoing debate, resulting in a lack of comprehensive screening recommendations for this demographic. The implementation of personalised risk assessments is essential to pinpoint women who benefit from earlier screening initiation.

    Moreover, for women above 50 at heightened risk, the conventional screening frequency of 2–3 years might not be ideal, often overlooking cases that could have been identified earlier.

     

    Colorectal cancer screening

    Incorporating polygenic risk score testing into the colorectal cancer screening strategy offers a refined approach to assessing risk. This genetic insight, combined with age and gender data, provides a comprehensive risk profile that informs personalised screening protocols. This enables more precise recommendations regarding the age at which to initiate colorectal cancer screening and the preferred methods. Tailoring screening recommendations to an individual’s unique genetic composition signifies a key advancement in the global endeavour towards precision medicine in cancer prevention.

     

    Prostate cancer screening

    The European Association of Urology (EAU) guidelines for prostate cancer emphasise individual early detection and risk assessment, particularly for men with specific risk factors such as age, family history of prostate cancer, men of African descent, and carriers of BRCA2 mutations. The guidelines advocate for a personalised approach to early detection and screening, including the use of PSA testing and digital rectal examination (DRE), while also considering the patient’s life expectancy and co-morbidities. The prostate cancer PRS test is an additional important factor characterising prostate cancer risk that must be considered in individual risk assessments and subsequent screening decisions.

Projects

Clinical implementation projects supported by leading institutions across Europe

  • BRIGHT

    Implementing breast cancer precision prevention in Estonia, Sweden and Portugal.

    BRIGHT project evaluates in the European healthcare the implementation of a comprehensive program of genetic risks based personalized breast cancer screening and prevention for women at age 35-49.

    In collaboration with University of Tartu, Tartu University Hospital, Estonian Health Insurance Fund, Region Uppsala, IESE Business School, GE Healthcare, Lisbon Hospital de Santa Maria.

    Supported by
  • AnteNor

    Implementation of polygenic risk score guided breast cancer precision prevention in Norway.

    The AnteNOR project explores how to improve prevention and early detection of breast cancer in Norway, using breast cancer polygenic risk score test AnteBC.

    In collaboration with Oslo University, Oslo University Hospital, Vestre Viken Hospital Trust, Oslo Cancer Cluster.

    Supported by

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