Summary of Professor Samuli Ripatti’s presentation “Personalised medicine – where are we now and in 5 years?” at Medaffcon’s customer evening on 6 Apr 2016
Personalised medicine seeks to move away from the traditional culture of treating an average patient. “One disease, one medicine” does no longer correspond to our conception of the best possible treatment in many diseases. In health care, we have long focused on adjusting environmental factors alone in preventing and treating diseases, but as gene research has become more common and contributed to the reduction in service prices after the Human Genome project, gene information has been increasingly utilised in preventing and treating diseases.
Finland has long-standing traditions in gene research. The latest evidence of this is the Sequencing Initiative Suomi (SISu) of the National Institute for Health and Welfare (THL) and several international parties, which aims at exploiting gene information in health-promotion. The aim of the project is to compile Finnish genome information into a reference database, where it is optimally available for Finnish physicians and researchers to utilise. The database can contribute to understanding, which variation in an individual genome is common and which is additional in our population. Currently, a few tens of thousands samples of the THL biobank with an approximate total of 200,000 samples have been sequenced with different measures, and the information is currently being connected to health information from different sources. The material is complemented with biobank samples from the health care districts.
How to turn genome information for the benefit of health improvement? The significance of individual variants, i.e. genetic deviation for having a disease is often minor. When variations accumulate, the risk to have a disease increases. We know that in the origin of a coronary artery disease (CAD), about one half is explained with the genotype and the other half with lifestyles and environment. Prediction with genome and traditional risk factors in Finriski-study demonstrated that polygenic accumulation increases the risk of having a CAD event: in the highest 5% group (approx. one million Finns), ca. 30% of the cases had a cardiac event. If polygenic accumulation was low (lowest 5% of the material), only a few per cent had a cardiac event. In the same material, the increase of risk was two-fold with 42 gene variations, and five-fold with 49,000 gene variations. This information should be utilised more effectively in patient treatment in the future.
The Kardiokompassi Internet application targeted at consumers is an online tool developed by FIMM (Institute for Molecular Medicine Finland), Finnish Innovation Fund Sitra and the Finnish Red Cross Blood Service to decrease and communicate the risk of coronary artery disease. The application calculates how the risk of a CAD-endpoint will develop, if other risk factors develop according to the average in the population. So far, Kardiokompassi has been tested with 200 consumers. According to the feedback, the information concerning the CAD-risk received from the application was mainly considered positive: it encourages one to take better care of one’s health and it is not considered to cause worry. Other similar projects are ongoing, and their objective is to return the genetic information at the individual level.
The decision of the government on 5 Apr 2016 to build a genome centre in Finland solves some of the national challenges of gene research: the coordination of several separate projects from a national genome centre facilitates the utilisation of partly dispersed gene information for the benefit of health-promotion and contributes to meeting FIMM’s objectives for Finns’ health and welfare; utilisation of genomes in preventing national diseases, cancer diagnostics, diagnostics of rare diseases and in the selection of medicine.