• Dr. Milani Lili, PhD

CV

Lili Milani is the Head of the Estonian Biobank and professor of pharmacogenomics at the University of Tartu. She has a PhD degree in molecular medicine from Uppsala University, Sweden.

Her research focuses on the prevention and treatment of cardiovascular diseases, psychiatric conditions and how genetic variation can influence drug response, including adverse drug reactions.

She managed the development of the MyGenome portal, which was launched in June 2024 and gave over 200,000 biobank participants access to their genetic data, including pharmacogenomic reports, in an engaging and meaningful way.

Additionally, Lili is actively involved in national projects aimed at integrating genetic data into the healthcare system, ensuring that genetic data is utilized to its fullest potential.

ABSTRACT

Long read sequencing and return of results to biobank participants

Lili Milani1, Kristi Krebs1, Maarja Jõeloo1, Georgi Hudjashov1,2, Maris Alver1, Robin Hofmeister1, Burak Yelmen1, Viktorija Kukuškina1, Reedik Mägi1, James M. Holt3, Egor Dolzhenko3, Michael A Eberle3, Mait Metspalu2

Affiliations:

  1. Estonian Genome Centre, Institute of Genomics, University of Tartu
  2. Estonian Biocentre, Institute of Genomics, University of Tartu
  1. PacBio, Menlo Park, CA 94025, USA

 

The Estonian Biobank is a volunteer-based resource that links the genomic data and extensive electronic health records of 212,000 individuals. The database contains detailed information on prescribed and purchased medications, and self-reported treatment outcomes. Midway through the sequencing of the genomes of 10,000 participants using PacBio’s HiFi long-read technology, we observe an abundance of novel genetic variants and an enhanced resolution of structural variants (SVs) commonly missed by short-read sequencing and genotyping methods. The long reads have, for example, enabled improved phasing of the CYP2D6-CYP2D7 locus, revealing that the *68 hybrid gene occurs in tandem with *4 in most cases (allele frequency 5.8%), but also in tandem with functional alleles (*1, *2, or *35) in several individuals. A unique feature of the biobank is the possibility to recontact individuals for follow-up studies based on specific genetic findings, and the recently launched participant portal MyGenome, which contains personalized pharmacogenetic reports, disease risk information, and educational content. To date, over 106,000 participants have accessed their results, and their feedback has been remarkably positive. In this talk, I will present an overview of these efforts, what challenges we faced along the way, and how they were overcome.