Women aged 35–39 were statistically overrepresented compared with other age groups, indicating a strong interest among younger women in personalised screening options
Madli Tamm
According to Professor of Medical Genetics Neeme Tõnisson, the project has received significant recognition across the medical and scientific community. Recently, the European Institute of Innovation and Technology (EIT) awarded the project second place in the category for innovations with high social and economic impact. “This demonstrates that the project involved internationally recognised experts who succeeded in developing a new approach to address a health problem affecting many countries,” Tõnisson noted.
Based on the results, the authors emphasise that when assessing breast cancer risk, it is essential to evaluate genetic predisposition more broadly – beyond only high-impact single gene variants. They highlight that current screening considers only female sex and age, even though multiple measurable risk indicators could guide screening more precisely. At the same time, they stress the importance of avoiding unnecessary procedures for women at low risk.
The Estonian arm of the study included 799 healthy women aged 35–49. Results showed that 330 women (41.3%) had a higher polygenic breast cancer risk than an average 50-year-old woman. These participants were advised to begin personalised breast cancer screening before age 50, with the starting age depending on each woman’s individual risk level. Of these higher-risk women, 124 (37.6%) were recommended to begin screening this year, and 183 (55.5%) in the coming years. Among those who proceeded with screening, 14 benign tumours (15%) were detected, as well as one precancerous condition (1.1%) and one early breast cancer (1.1%). Among participants referred to a medical geneticist, four (4.4%) were diagnosed with a likely familial predisposition and also entered a personalised screening pathway.
After participating, women were more aware of genetic and non-genetic breast cancer risk factors and received information on prevention and early detection. Younger women identified as high-risk were offered intensified screening, helping to reduce complications arising from late-stage diagnosis, while unnecessary low-value screening of low-risk women was avoided.
Oncologist Dr Peeter Padrik noted that the European Commission has recommended lowering the starting age of breast cancer screening. “The personalised, risk-based model developed in the BRIGHT project aligns with this recommendation – but allows screening to be implemented far more efficiently by conserving healthcare resources and reducing unnecessary procedures,” he explained. He added that personalised approaches aim not only for early detection but also for lowering future incidence through risk-reducing interventions.
Lead author Madli Tamm highlighted that, beyond the cancer cases found, patient feedback itself was invaluable. “In our study, women aged 35–39 were statistically overrepresented compared with other age groups, indicating a strong interest among younger women in personalised screening options,” she said. She added that the proposed service model also makes screening more convenient and broadly accessible through digital solutions. “We tested multiple communication channels, at-home DNA collection kits, and online delivery of results – all of which were positively received by both healthcare professionals and study participants.”
In summary, the BRIGHT study demonstrated a feasible and easily scalable personalised breast cancer screening model, suitable for implementation in other countries as well. By improving prevention and early detection through accessible and accurate services, this approach has the potential to improve patient outcomes globally and reduce breast cancer mortality.
Source: Estonian Research Information System