REVIEW – May 2019

How could a national populationbased biobank contribute to public health, precision prevention and early diagnosis in Estonian patients

Authors: Marili Palover, Kristi Krebs, Lili Milani, Neeme Tõnisson

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The Estonian Biobank has already a recruited an exceptionally large part of population. By 2020, we expect to have already 200,000 participants, accounting for approximately 20% of the adult population in Estonia. The Biobank database consists of genomics data (approximately 5000 individuals with whole genome and whole exome sequences, the rest with high resolution whole genome genotyping data), together with regularily updated health data from questionnaires, national registries, central E-Health database and databases of two major regional hospitals in Estonia. Population biobanks have the advantage that they allow for an unbiased view on genetic and genomic risk factors, both mono- and polygenic. The risk estimates for complex disorders can be calculated from polygenic risk scores. The Estonian Biobank is currently one of the main drivers for  for the introduction of personalised medicine and precision prevention in Estonian healthcare system. After proper evaluation and validation of the approaches, these services can also be made available for the rest of Estonian population.
The Estonia Biobank is actively participating in several pilot projects on return of genetic risk estimates. To date, over 2000 individuals have signed up, consented, and received data and counselling for various conditions, including complex disorders such as coronary heart disease, type 2 diabetes, early menopause in women, moderate risk factors (alpha 1 antitrypsin insufficiency, hereditary thrombophilia, adult type hypolactasia), parmacogenetic data, etc. High-risk actionable monogenic disorders, such as hereditary breast and ovarian cancer, hereditary colon cancer, familial hypercholesterolemia, etc have also been addressed upon available genetic data. So far, the vast majority of counselled participants have positively evaluated the returned reports and counselling. Several projects are now rolling out into more clinical settings in collaboration with medical doctors, in both primary and specialty care. The lessons learned from our pilot projects will be further used for introducing personalised healthcare services in Estonia in the next few years to come. The challenges ahead involve all stakeholders to prepare the necessary clinical guidelines and processes, regulatory framework, and IT solutions that enable clinicians and individuals to access the genetic information and reports in an intuitively understandable manner. By developing comprehensive decision support and online counselling tools, combined with education materials, this should be possible to achieve in the near future.