Prof. Andres Metspalu

Head of the Estonian Biobank, Institute of Genomics

University of Tartu

From Biobanking to Genomic Medicine –practical approach for the personal prevention of the disease.

Abstract:

The Estonian Biobank was proposed in 1999, legally founded in 2000 as a volunteer-based biobank, it took some time to build it up and in 07.10. 2002 EstBBreceived the first blood sample. Now, 25 years later, it contains a collection of the longitudinal health and genetics data of over 210 000 individuals, approximately 20% of the adult population of the country. The Human Genes Research Act (passed in 2000) allows regular updating of data through linking to national registries, enabling long-term follow-up of the cohort and re-contacting biobank participants. All individuals in the EstBBcan have access to the biobank data using the special web-based biobank portal and see their PRS based disease risks (CVD, T2D, PGx etc.). All individuals in the EstBBhave been genotyped with Illumina’s Global Screening Array, and the whole genomes of 3,000 individuals have sequenced using Illumina platform, but now the PacBio Revioplatform is used to sequence the next 10 000 full genomes. This will serve among other things also as a population-based imputation reference. I will report pilot projects where personalized medicine was used in the clinical study in Estonia: familiar hypercholesterolemia (FH), breast cancer. Using a “genetics first approach”, we discovered many new FH patients not detected by the medical system and for over 50% of the cases the treatment was changed. We have developed decision support tools for several major diseases, including risk estimates based on polygenic risks scores (PRS) for breast cancer. Today, over 5,000 participants of the EstBBhave received genetics-based counselling and the feedback has been very positive. All these data will be transferred to the medical system in 2024 and according to the current plan first PRS based tests (“medical device”) should be implemented for breast cancer from Q2 of 2025.

Biography:

Prof. Andres Metspalu(MD 1976, PhD 1979), Institute of Genomics and Institute of Molecular and Cell Biology, University of Tartu, has main scientific interests in human genetics, genomics of complex diseases and population-based biobanks, with special emphasis on the application of the precision medicine in health care. In 2010 he was elected to the Estonian Academy of Sciences. A. Metspaluis the past (2005-2007) president of the European Society of Human Genetics and has been serving in several national and international committees (board member of Mission for Cancer in Horizon Europe (until Dec 2021), member of the coordination group and lead/co-lead of WG10 and WG12 in EU 1+Million Genomes Initiative, etc). In 2024 he was elected to Academia Europaea as a full member.