Polygenic Risk Score Improves Precision of Breast Cancer Screening

The breast cancer genetic risk-based stratified screening service was introduced at the European Society of Human Genetics Conference: preliminary results of the EIT Health BRIGHT project in Estonia.

The purpose of the international BRIGHT project is 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 for the inclusion of women, including telemedicine solutions with home-based genetic testing.

The project uses an innovative polygenic risk score test, AnteBC, developed by health technology company, Antegenes, combined with traditional monogenic pathogenic variant testing, and 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.

The Estonian arm of the project targeted women at age 35–49, which is earlier than the current standard eligible age for screening, but when 20 percent of breast cancer cases concur. 800 women with a median age of 42 (range 35 to 49 years) were included in the project using four different channels: Antegenes’ online portal using home-based testing, pharmacies, a breast clinic, and a family physician service. Approximately 200 women were registered in each channel.

Analyzing the AnteBC test findings

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 breast cancer (BC) risk data and the standard mammography screening starting age. BC screening for younger women is initiated at a time when the predicted individual risk equals the average risk for women aged 50 years, thereby providing more equity.

Results of the polygenic risk score testing with AnteBC test revealed that 124 (15.5 percent) women had breast cancer risk higher than average risk at age 50. Monogenic pathogenic variant (BRCA1, BRCA2, etc.) testing was specified using questionnaires according to official indications for these tests.

236 women (29.5 percent) responded to the feedback questionnaire, which revealed that 99.6 percent of respondents were glad that they had the opportunity to participate in the BRIGHT project and that the information contained for breast cancer precision screening was adequate, clear, and understandable to 98.3 percent of participants. 11 percent of the women who participated in the project took the opportunity to receive an additional oral consultation after receiving the results, others felt that written detailed recommendations were sufficient. 

Feedback data is collected anonymously from study participants and healthcare professionals to assess the feasibility, acceptability, and health care system readiness of a stratified cancer screening approach.

The integration of 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 being conducted in Portugal and Sweden.

The BRIGHT project will result in a holistic personalized BC screening method to offer the best up-to-date clinical practice. It is applicable to all healthy women in the appropriate age group. Women can give a DNA sample during regular check-ups with their family doctor or even comfortably 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 BC precision screening.

- This press release is originally published on the BRIGHT project website