Implementation of polygenic risk score guided breast cancer precision prevention

The general objective of the project is to implement AnteBC test as part of a breast cancer screening routine in Norway. Current breast cancer screening is only age based but can decrease mortality by around 20% if invitations account for AnteBC results. The project activities deploy AnteBC to Norwegian healthcare: a consortium of partners assesses the test performance in the Norwegian population, conducts a clinical pilot study and assembles technical documentation to prepare for public reimbursement.

By the end of the project, the performance of the AnteBC test based on the genetic data of the Norwegian population has been analyzed, a successful clinical trial has been conducted in Norwegian clinical settings and the necessary scientific and regulatory documentation has been developed for the implementation of breast cancer precision prevention. Also, necessary trainings for healthcare professionals have been conducted.

Oslo Cancer Cluster
Osly Universitetsykehus
Vestre Viken Hospital Trust
Oslo University

Antegenes is an Estonian health technology company and medical laboratory with a goal to develop and implement advanced genetic tests based on polygenic risk scores technology for the prevention of major complex diseases.

July – December 2021

• AnteNOR project kick-off
• Green ICT project was mentioned in Delfi Ärileht article
• Mapped and interviewed Norwegian key stakeholders in the field of breast cancer and breast cancer mammography screening
• Applied and received the ethical commitee approval for genetic analysis study
• Analysis of Norwegian genetic data started
• Antegenes became a member of Oslo Cancer Cluster
• Presentation about Antegenes and AnteNOR project at Oslo Cancer Cluster virtual annual meeting on 15th of December

January – June 2022

• Started cooperation with Oecona AS
• Participated in EXPO 2020 Dubai for international scientific cooperations
• Green ICT project was mentioned in e-Estonia blog article.
• Development of the cost-benefit simulation study for Norwegian medical setting
• AnteNOR seminar was organized in Oslo by Oslo Cancer Cluster and Antegenes
• AnteNOR project clinical pilot study protocol created and ready
• Application for conducting the AnteNOR clinical pilot is submitted to Regional Ethical Commitee

July – December 2022

• Approval of the Ethics Committee to implement study in Oslo University Hospital and Vestre Viken Hospital was obtained.
• Clinical study was registered in the ClinialTrials.gov database.
• Clinical study logistics pathways were developed,  study assistant was involved by Vestre Viken Hospital.
• Retrospective performance assessment of Antegenes PRS in Norwegian data has been conducted. Initial results have been compiled and presented as a poster at the Nordic Society of Human Genetics and Precision Medicine 2022 conference “Precision Medicine Research And Implementation: Rebooting In The Nordics Post-Covid” (3-4 November 2022, Copenhagen, Denmark) (Akdeniz et al. “Implementation of polygenic risk score guided breast cancer prediction in Norwegian data”).
• Oecona developed the cost-utility preliminary model for Norwegian medical setting. Collaboration with health economists of Sweden was launched.
• Norway specific health technology assessment and implementation options specific to Norwegian healthcare were developed.
• The article “Preventing breast cancer in Norway” was written and published on Oslo Cancer Cluster website.

January – June 2023

• A cost-benefit study assessing a AnteBC based breast cancer screening routine in comparison with alternatives is completed.
• Information from external and internal sources for health technology assessment was collected and developed.
• The clinical pilot was launched in February in Oslo University Hospital and Vestre Viken Hospital.
• AnteBC polygenic risk model is recalibrated for use in Norwegian population. The manuscript is under submission.
• Genetics guided breast cancer screening program policy document draft has been developed and introduced to partners and external experts in Norway and the UK.
• Three articles were written and published on Oslo Cancer Cluster website:

1. February 23 about the clinical study launch.

2. May 30 about Antegenes support to the recent guidance from the American College of Medical Genetics and Genomics.

3. June 27 about AnteNOR project results presented at the meeting organized by the Norwegian Cancer Mission Hub.

July – December 2023

• The health technology assessment report to support the development of a reimbursement application in Norway has been finalized and dossier developed.
• The clinical pilot in Oslo University Hospital and Vestre Viken Hospital was carried out.
• Data from clinical pilot was analyzed and preliminary results were presented at AnteNOR results presentation seminar on 6th of November in Oslo.
• Comparison of polygenic risk scores’ performance to current breast cancer risk assessment methods is completed.
• The development of genetics guided breast cancer screening program policy document was continued.
• The manuscript titled „A Breast Cancer Polygenic Risk Score is feasible for risk-stratification in the Norwegian population“ was published in the journal MDPI Cancer. Read more here.
• October 12 an article “Implementation of Risk-Stratified Breast Cancer Prevention With a PRS test in Clinical Practice” was published in SAGE Journals. Read more here.
• Two articles were written and published on Oslo Cancer Cluster website:
  1. September 6 about the Norwegian clinical and genetic data analyses.2. November 10 about the AnteNOR results presentation seminar.
• Peeter Padrik participated in the European Hereditary Tumour Group Annual Meeting in Vilnius, where he gave a presentation on the topic “Clinical Applications of Breast Cancer Polygenic Risk Score Testing in Women”.

Project contact