Jaak Vilo (Elixir head-of-node Estonia and head of the Institute of Computer Science at the University of Tartu) will speak about: “The set up of the Estonian Biobank and use cases: polygenic risk scores, pharmacogenetics and rare mutations”
Estonian Biobank and Personalised Medicine Initiative
Estonia launched a population based, voluntary, longitudinal prospective research oriented biobank in the year 2000 with a broad informed consent. The original biobank grew to 52,000 participants with a rapid increase in 2018 to 100,000 participants. Linking health data resources is currently ongoing. Main genetic feedback use cases have been focussed around polygenic risk scores for diabetes, cardiovascular diseases, breast cancer, and early menopause. A recent pharmacogenetic use case established that almost everyone carries a variant of some of the drug metabolising genes that would require change of dosage for at least some drug. A cascading recall study has been performed for familial hypercholesterolemia genetic variant carriers. Based on such successes the implementation of linking the genetic data to health IT systems is being planned on the national level.
When? Wednesday 28 November, 16:00 h
Where? Vondelzaal, Stratenum, Universiteitsweg 99, Utrecht