„From biobanking to personalized medicine“
Pranešėjas: prof. Andres Metspalu, MD, PhD, The Estonian Biobank, Estonian Genome Center, Institute of Genomics, University of Tartu, Estonia
The Estonian Biobank was founded in 2000 as a volunteer-based biobank, and now, 20 years later, it contains a collection of health and genetics data of over 200 000 individuals, approximately 20% of the adult population of the country. The Human Genes Research Act (passed in 2000) allows regular updating of data through linking to national registries, enabling long-term follow-up of the cohort and re-contacting biobank participants. A nationwide technical infrastructure (X-road) for the secure electronic exchange of medical data has also been established and is maintained by the state. Individuals have been genotyped with Illumina’s Global Screening Array, and the whole genomes of 3,000 individuals and whole exomes of 2500 individuals have been sequenced. This serves as a population-based imputation reference.
I will report 3 pilot projects where personalized medicine is implemented in Estonia: familiar hypercholesterolemia (FH), breast cancer and drug response. Using a “genetics first approach”, we discovered many new FH patients not detected by the medical system and for over 50% of the cases the treatment was changed. We have developed decision support tools for several major diseases, including risk estimates based on polygenic risks scores (PRS) for breast cancer, and pharmacogenomics based recommendations. Today, over 3,000 participants of the Estonian Biobank have received genetics-based counselling and the feedback has been very positive. As all these data will be transferred to the medical system within the next few years, personalized medicine as 4P medicine (personalized, predictive, preventive and participatory) has reached the point of no return in Estonia and according to the current plan first PRS based tests (“medical device”) should be implemented from 2023.