PacBio system to assist Estonia’s national genome scheme

The university is host to the country’s National Biobank, where its Institute of Genomics is seeking to sequence 10,000 whole human genomes to produce new insights into population health data aimed at developing a comprehensive system of personalised medicine for the Baltic state. 

It is hoped that purchase of three Revio system will enable the target numbers to be reached in a 30 month period, boosting understanding in particular of the genetics of cardiovascular disease, mental, reproductive and female health, cancer and rare diseases, and treatment outcomes.

“The 10,000 long-read whole genomes will bring a new dimension of insight into the genetics of the Estonian population and push us closer to the Biobank’s goal of realizing health benefits for people locally and internationally. We’re particularly excited about the possibilities for researching polygenic risk scores for cardiovascular disease and cancer, as well as predicting patients’ responses to medications based on their genetic makeup,” said Biobank head Lili Milani, professor of pharmacogenomics at the university. 

Founded in 2000, the Estonian Biobank holds more than 212,000 samples – equivalent to a fifth of the country’s adult population. However, these have been genotyped using microarray-based methods that are lower resolution, with less scope for detecting complex or unknown variants. They also depend on reference genomes, so results may be biased towards well-represented demographics.

PacBio said whole genomes sequenced using Revio would provide more diverse data and enable analysis of complex variations. The system also permits access to the second layer of genomic information, the epigenome, which can offer implications for oncology.

With an overall population of less than 1.4 million and advanced economic and healthcare systems, Estonia offers an unusual opportunity to gauge the effectiveness of whole-population genomics within a restricted timescale. The country also has the advantage of being one of the most digitally advanced in the world.

These factors have played a part in the European Commission’s decision to commit funding support for the project alongside the national government. The Biobank team is also seeking to secure funding to sequence its entire biobank of over 200,000 samples to help drive healthcare advances in the European Union and worldwide.

Pic: Brano