From Biobanking to Precision Medicine: The Estonian Way
Speaker: Prof. Andres Metspalu, MD, PhD
The Estonian Genome Center, Institute of Genomics, University of Tartu, Estonia
Monday, February 25, 2019, 5:00-6:00 pm
Lecture Hall German Heart Center Munich, Lazarettstr. 36, 80636 Munich
The Estonian Biobank was founded in the year 2000 as a population-based biobank. By the end of 2019 it will include a collection of health and genetics data of around 200.000 people, which is approximately 20% of the adult population. All participants of the biobank have donated blood samples for DNA extraction and genotyping with the Illumina Global Screening Array (GSA), embracing roughly 700.000 genetic markers. The Estonian Human Genes Research Act allows regular data updating through linkage to national registries. This enables long-term follow-up of the cohort and to re-contact the sample donors. Therefore, the implementation of the EU General Data Protection Regulation (GDPR) required only mostly cosmetic adaptations.
Whole genome and whole exome sequencing (WGS and WES) are performed on each 2.500 and 2.600 genomes. This can be used as population-based reference for deriving extended genetic information from all GSA genotypes in the biobank by “imputation”. In the past few years, we increased our focus on translating genetic research results to improve public health. A nationwide technical infrastructure (X-road) for the secure electronic exchange of medical data has also been established and is maintained by the state. This allows creating the disease (or life!) trajectories on all sample donors from the birth in the Estonian Biobank, where all contacts with the medical systems incl. ICD-10 diagnoses, prescriptions, lab data and electronic medical records are included. Using our WGS and WES data, we have demonstrated that this “genetics first approach” discovers many previously carriers of familiar hypercholesterolemia. Over 50% of these diagnosed patients received consequentially adapted medical treatment. We are conducting several pilot projects to work out the best ways to return heath related research data - “genetic risks scores” - back to interested donors. This is a valuable instrument of early disease prediction and prevention. For that purpose, we have further developed decision support tools for several major diseases like CAD, T2D and breast cancer, as well as for genetic predisposition for individual drug responses (pharmacogenomics). These tools will be transferred to our medical system in next few years. Together with the RITA program on personalized medicine in two largest hospitals in Estonia, the P4 medicine (personal, predictive, preventive and participatory) has reached to the point of no return.
The event is free of charge, registration is not necessary.
Dr. Jens Wiehler
Managing Director DigiMed Bayern
BioM Biotech Cluster Development GmbH
Phone: +49 (0) 89-899679-36