Personalized Medicine Based on Common & Rare Genetic Variants in Estonia

Dr. Lili Milani, Research Professor & Head of Personalized Medicine, Estonian Genome Centre

Dr. Lili Milani talks about the personalized medicine initiative that she’s been leading at the Estonian Biobank. Collecting different layers of OMICS profiling data including whole-genome sequencing (WGS), whole-exome sequencing (WES), and genotyping from all biobank participants, Dr. Milani and her team have been designing an approach where genomics is deployed for identifying rare mutations, developing polygenic risk score analysis for common chronic diseases and cancer, and conducting pharmacogenomics studies.

In the latter regard, Milani's research group has been looking for genetic variants associated with adverse reactions to specific medications and testing how to translate existing genomic data into reports and prescription guidelines in order to provide genetic counseling and find ways to implement PGx into the healthcare system.