International study shows polygenic risk score results of genetics-based breast cancer precision prevention 

During the European Society of Human Genetics Conference, Estonia’s EIT Health BRIGHT project presented the breast cancer genetic risk-based stratified screening service and shared their initial findings.

The international BRIGHT project aims to implement genetics-based breast cancer precision prevention in European healthcare, moving beyond the current standard screening, which is offered based on age only. Preliminary results revealed that genetics-based breast cancer precision prevention is feasible using multiple channels to include women, including telemedicine solutions with home-based genetic testing. 

The project uses the innovative polygenic risk score test AnteBC, developed by health technology company Antegenes, combined with traditional monogenic pathogenic variant testing. It implements different channels for population-based genetic screening.  

This innovative approach is led by the BRIGHT consortium, which includes the University of Tartu, Antegenes, Tartu University Hospital, IESE Business School, GE Healthcare, Uppsala Region, Uppsala University Hospital, North Lisbon Central Hospital and Estonian Health Insurance Fund.  

Reaching Underserved Women in Breast Cancer Screening

The Estonian initiative aimed to reach women aged 35-49, who are not currently included in standard breast cancer screening, even though 20% of breast cancer cases occur in this age group. The project recruited 800 women with an average age of 42 (ranging from 35-49) through four different channels: Antegenes’ online portal, which offered home-based testing, pharmacies, a breast clinic, and a family physician service. Each channel registered approximately 200 women. 

The women who participated in the study took the genetic test AnteBC to assess the polygenic predisposition to breast cancer. AnteBC PRS test can be adjusted to a specific population’s BC risk data and the standard mammography screening starting age. BC screening for younger women is initiated when the predicted individual risk equals the average risk for women aged 50, providing more equity. 

Based on the results of the AnteBC test’s polygenic risk score testing, it was found that 124 (15.5%) women have a breast cancer risk higher than the typical risk for their age group of 50. It is recommended that these women begin breast cancer screening promptly. Monogenic pathogenic variant (BRCA1, BRCA2, etc.) testing was specified using questionnaires according to official indications for these tests.  

Of the total participants, 236 women (29.5%) responded to the feedback questionnaire. The results showed that 99.6% of respondents were pleased with the opportunity to take part in the BRIGHT project. Additionally, 98.3% of participants found the information about breast cancer precision screening clear, adequate, and easy to understand. Some women (11%) chose to have an oral consultation after receiving their results, while others found the written recommendations to be sufficient. Feedback data was gathered anonymously from study participants and healthcare professionals to evaluate the feasibility, acceptability, and readiness of a stratified cancer screening approach within the healthcare system. 

Paving the Way for Personalized Cancer Screening

Integrating breast cancer polygenic risk score testing and parallel monogenic variants management in healthcare aims to establish a stratified cancer screening approach that ensures better patient outcomes, improved equity, and increased screening participation rates. A similar project is still being conducted in Portugal and Sweden. 

The BRIGHT project will result in a holistic, personalised BC screening method to offer the best up-to-date clinical practice. It applies to all healthy women in the appropriate age group. Women can give a DNA sample during regular check-ups with their family doctor or at home. All of this should increase the screening participation rates and reduce BC-caused deaths. The solution is already implemented in Estonian healthcare as an opportunistic breast cancer precision screening. 

The European Commission has supported the BRIGHT project via EIT Health BRIGHT innovation activity (project #220720). For more information about the BRIGHT clinical study and breast cancer risk-based stratified screening service, visit https://brightscreening.eu.