Genetics-based personalised breast cancer prevention and screening is a modern healthcare service with a risk-based approach to breast cancer prevention and early detection, with the aim of reducing breast cancer mortality.
It is based on a breast cancer risk assessment based on gender, age, ethnicity and polygenic risk.
It is possible to add to the service delivery process a family cancer risk history questionnaire to determine the indication for testing for monogenic pathogenic variants according to local healthcare standards and, if appropriate, a non-genetic risk data questionnaire to collect data for the use of a combined risk model.
As a result, with the support of digital decision support, the woman and her doctor will receive a prevention and screening plan based on a personal risk level as a health service, with referral to mammographic screening if indicated and, if necessary, additional consultation for testing for monogenic pathogenic variants.
This approach is not based on binary decisions. Breast cancer risk exists on a continuum, and personalised prevention requires a risk-stratified framework that takes genetic risk, age, family background, and clinical context into account. Clear decision support is therefore essential for both patients and healthcare professionals.
The service has been developed, validated and tested in clinical use with the support of EIT Health within the framework of the BRIGHT project applied research and has been introduced as a screening service in Estonian healthcare and in several other European healthcare systems.
The primary target group of the service: women aged 40–49 years without a diagnosis of breast cancer (age before the start of the current standard screening at the age of 50). For women in this age group, a personalised screening and prevention service will solve the problem of expanding screening to women under 50 in a better and more modern way.
The broader target group: all women from age 30 to 75.
If you have any questions or would like further information on clinical use, please contact our team.
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