TranSYS Training School 25th November 11.00

Dr. Lili Milani

Vice Director, Research Professor of Epi- and Pharmacogenomics, Head of the Personalized Medicine Initiative

Estonian Genome Center, Institute of Genomics, University of Tartu

Wednesday 25th November 2020  11.00 CET

Pharmacogenetic studies in biobanks


The promise of pharmacogenomics (PGx) is that the use of an individual’s genetic information would help to predict drug response and further guide optimal drug and dose selection to enable safer, more effective, and cost- effective treatment (Krebs & Milani 2019). As technology advances, it is becoming increasingly more recognized that PGx testing results of the broad screening of multiple pharmacogenes as well as recommendations for dosing need to be available pre-emptively in electronic health records (EHR) and drug prescription systems. The pre-emptive translation of PGx discoveries remains a challenge, but implementation efforts have brought and will bring more informed knowledge to constantly improving solutions. As part of the Estonian Personalized Medicine Initiative, we are both conducting research to find associations between genes and drug response, and we have also designed a pipeline for translating genetic information into pharmacogenetic recommendations.

Key references:

Reisberg S, Krebs K, Lepamets M, Kals M, Mägi R, Metsalu K, Lauschke VM, Vilo J, Milani L. (2018). Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions. Genetics in Medicine 21(6): 1345-1354.

Biography: Lili Milani has a PhD degree in molecular medicine from Uppsala University, Sweden (2009). Her main areas of research have been epigenetics and pharmacogenetics. She is actively involved in research and implementation projects focusing on the role of rare and common genetic variants in complex diseases and drug response. She is the vice director of the Institute of Genomics (IG) where her main responsibilities are directing research and scientific collaboration at the Estonian Genome Center (EGC). She is also a research professor and head of the personalized medicine initiative at the IG and  participating in preparing and implementing the national strategy for personalized medicine in Estonia. In 2015 she was nominated for the Young Scientist Award of the Cultural Foundation of the President of Estonia and in 2019 received together with colleagues at EGC the National Science Award in chemistry and molecular biology for the series of works “Basic research on genetics and genomics for the implementation of personalized medicine in Estonia”. She is part of international consortia (Psychiatric Genomics Consortium, NeuroCHARGE Consortium, eQTLGen Consortium) and has been nominated to the ELIXIR board as a national representative. She is also Associate Editor of Frontiers in Genetics since 2018 and a member of the Evaluation Board for Personal Research Support of Estonian Research Council.