Information day

The BRIGHT information day, held on 9th of December at Park Inn by Radisson Meriton Conference & Spa Hotel, introduced the project and it’s novel objective to implement assessment of individual gentetic risk levels into breast cancer screening programs.

The event was attended by representatives from the Riigikogu Social Affairs Committee, Ministry of Social Affairs, Health Insurance Fund and National Institute for Health Development, members of patient organisations, professional associations and doctors in the field as well as by media representatives, research institutions and the wider public.

Scientific Publication published in Frontiers in Genetics

This original research article was published in Frontiers in Genetics in July 2022:

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

Although hereditary breast cancer screening and management are well accepted and established in clinical settings, these efforts result in the detection of only a fraction of genetic predisposition at the population level. Here, we describe our experience from a national pilot study (2018–2021) in which 180 female participants of Estonian biobank (of >150,000 participants in total) were re-contacted to discuss personalized clinical prevention measures based on their genetic predisposition defined by 11 breast cancer–related genes. Our results show that genetic risk variants are relatively common in the average-risk Estonian population. Seventy-five percent of breast cancer cases in at-risk subjects occurred before the age of 50 years. Only one-third of subjects would have been eligible for clinical screening according to the current criteria. The participants perceived the receipt of genetic risk information as valuable. Fluent cooperation of project teams supported by state-of-art data management, quality control, and secure transfer can enable the integration of research results to everyday medical practice in a highly efficient, timely, and well-accepted manner. The positive experience in this genotype-first breast cancer study confirms the value of using existing basic genomic data from population biobanks for precise prevention. 

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