Breast cancer screening through genetics-based precision prevention

The EIT Health funded BRIGHT project aims to revolutionise breast cancer screening through genetics-based precision prevention. This collaborative effort involves multiple stakeholders and utilises innovative genetic testing methods to personalise screening approaches and improve patient outcomes.


As a leading health technology company, the startup partner Antegenes has partnered with Estonian Biobank, University of Tartu, a biobank/health data registry to advance breast cancer screening. The aim was to implement a genetics-based approach to screening, addressing the limitations of age-based methods. 

The project stemmed from a recognition of the need to improve breast cancer screening.. By harnessing genetics-based risk assessment, they aimed to tailor screening approaches to individual risk profiles, ultimately improving patient outcomes and reducing breast cancer mortality rates from late diagnoses in young age groups. The project involves a diverse consortium of stakeholders, including academic institutions, healthcare providers, technology companies, and patient advocacy groups, each bringing unique expertise to the table.

Expectations for the project are high, reflecting the transformative potential of genetics-based screening. They anticipate that the project would yield valuable insights into the feasibility and effectiveness of personalised screening approaches, ultimately leading to improvements in breast cancer detection and prevention in an advancing list of European countries.

The Scientific Challenge

The BRIGHT project investigates the impact and cost-utility of genetic risk assessment methods, including polygenic risk score testing in breast cancer risk-based follow-up interventions. Additionally, they seek to understand the feasibility of integrating genetics-based screening into routine clinical practice and assess its psychosocial aspects including screening participation rates and patient feedback.

Before the project started, significant gaps existed in the understanding of genetics-based breast cancer screening. The effects of genetic risk assessment methods in identifying individuals at heightened risk, particularly among younger women, was largely untested. Additionally, the feasibility of implementing genetics-based screening in diverse healthcare settings and its impact on patient outcomes are areas requiring further investigation.

To ensure the success of the project, they need answers to key questions about the accuracy and reliability of genetic risk assessment methods, the feasibility of implementing genetics-based screening in routine clinical practice, and the impact of personalised screening approaches on patient outcomes. These answers are essential for informing the development of more effective and equitable breast cancer screening strategies.


From Antegenes, the company’s perspective, the project was executed through a multi-faceted approach involving collaboration with various stakeholders. They worked closely with the biobank/health data registry to access genetic and health data, which served as the foundation for developing and validating new screening strategies. The next steps involved collaboration with healthcare providers including primary care and hospitals,, healthcare payers, technology companies, and patient advocacy groups to ensure the scientific rigour and integrity of the research.

The project involves recruiting participants from diverse backgrounds and demographics and conducting genetic testing to assess their breast cancer risk. Screening recommendations based on individual risk profiles were provided to participants, with feedback gathered to evaluate the acceptability and feasibility of the approach. Throughout the project, they remained committed to ensuring the scientific rigour and integrity of the research, collaborating closely with academic partners to analyse and interpret the data.


The results of the BRIGHT project demonstrated the feasibility and effectiveness of genetics-based breast cancer screening in improving patient outcomes. They found that personalised screening approaches based on genetic risk assessment could identify individuals at heightened risk of breast cancer and prompt timely interventions, ultimately leading to improvements in patient outcomes.

The clinical studies in Estonia and Sweden have largely commenced. The Portuguese arm is in its final stages of recruitment. The results of the project have already shown significant implications for breast cancer screening practices, providing evidence for the integration of genetics-based risk assessment into routine clinical practice. The experience of working with the biobank/health data registry was invaluable, enabling them to access valuable genetic and health data and collaborate with diverse stakeholders to advance breast cancer screening.

Based on our experience, Antegenes team would strongly encourage other companies to collaborate with biobanks/health data registries. Such collaborations offer unique opportunities to access valuable data and expertise, enabling the development and validation of new screening strategies and ultimately improving patient outcomes.

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