Estonia is introducing genetic risk assessment into its national breast cancer screening programme, in what is believed to be the first integration of polygenic risk scores into a nationwide cancer screening programme anywhere in the world.
Instead of relying on age alone, the programme will use individual genetic risk to identify women who could benefit from earlier mammography. It launches this November and targets women turning 40 this year.
Screening programmes have traditionally used age to decide who is invited. In Estonia, as in many European countries, women are routinely called for mammography from the age of 50. Breast cancer risk varies considerably between women of the same age, which means some face elevated risk years before they become eligible.
Genetic risk instead of age alone
The new approach addresses that gap by adding polygenic risk scores (PRS) to the national breast cancer prevention programme. Genetic testing has long been used to identify hereditary cancer syndromes caused by mutations in single high-risk genes. Polygenic risk assessment takes a broader view: most people’s genetic predisposition is shaped by the combined effect of numerous variants, each adding a small amount to overall risk.
By analysing those variants together, a polygenic risk score can estimate a woman’s predisposition even without a known family history of breast cancer. Women whose genetic risk at 40 matches that of an average 50-year-old can then be offered screening ten years earlier than under the standard programme.
According to Estonia’s Minister of Social Affairs Karmen Joller, the initiative shows how the country can translate its strengths in digital healthcare and genetic research into practical solutions that improve health.
“Estonia has invested in genetic research and digital healthcare for decades, and we are now putting these strengths to work to improve cancer prevention. Our ambition is to move towards a healthcare system that can identify risks earlier and offer people preventive care based on their individual needs, rather than relying on one-size-fits-all solutions. We hope Estonia’s experience will also help other countries take similar steps towards personalised healthcare,” said Joller.
Maivi Parv, Member of the Management Board of the Estonian Health Insurance Fund, emphasised the practical benefit of introducing genetic risk assessment into screening.
“Breast cancer detected at an early stage is usually highly treatable. By assessing genetic risk, we can identify women who should begin screening earlier instead of waiting until they reach the standard screening age. This means we can offer preventive care to those who need it most, at the time when it can make the greatest difference,” said Parv.
From research to a nationwide breast cancer screening programme
The programme follows years of clinical research in Estonia exploring how genetic risk assessment can be integrated into routine healthcare. Peeter Padrik, oncologist and founder and chief executive of Estonian health technology company Antegenes, which developed the software used to calculate the polygenic risk scores, stressed the importance of turning scientific advances into prevention.
“I have been treating women with breast cancer for more than 30 years, and I still see far too many cases of advanced cancer, unfortunately also among younger women. Treating these cancers is much more difficult than treating the disease when it is detected as early as possible. Genetic risk assessment allows us to identify women who should begin screening earlier than those at average risk,” said Padrik.
“At present, most women and their doctors are unaware of their individual risk levels. Polygenic risk scores help turn genetic data into a practical tool for making more precise prevention decisions. Personalised breast cancer screening has been evaluated in major international research projects, including in Estonia, and it is encouraging to see it now becoming part of routine healthcare.”
Rather than limiting genetic risk assessment to selected patients or research participants, Estonia is putting it into a publicly funded national programme. The experience may offer useful lessons for other countries looking to move beyond age-based screening towards more personalised prevention. Estonia’s work on health technology and its use of genetic data in digital health have drawn international attention in recent years.
A national partnership behind the programme
The programme has been developed with healthcare institutions, researchers, technology providers and government agencies. Its lead clinical partner is Tartu University Hospital, while the polygenic risk assessment technology was developed by Antegenes. Other partners include the Estonian Health Insurance Fund, the Health and Welfare Information Systems Centre (TEHIK), the Estonian Biobank at the University of Tartu, the Cancer Screening Registry of the National Institute for Health Development, and the Ministry of Social Affairs.
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