THL, HUS and CSC co-operating to promote the use of genome data in health care

Human genome data can be used in diagnosing, preventing, understanding the cause and choosing the treatment of diseases. Based on the genome data, suitable individual medication can be chosen for a given patient, thus enhancing the effectiveness and safety of the treatment being administered.

Pharmacogenetics studies the effect of inherited genetic differences on individual responses to medications. A joint study will determine how this data could be used in working with patients.

Jointly conducted by the National Institute for Health and Welfare (THL), HUSLAB Department of Clinical Pharmacology and CSC, the study will make use of data from the THL Biobank and HUS patient data.

The data will be used to chart the prevalence of genetic mutations affecting medical treatments in Finnish and sample patients of the Helsinki University Hospital. The study will also investigate how many sample patients received medical treatment during or after the treatment period, where the selection of a medicine or recommended dosage could have been affected by genetic data.

– The study will explore how genome data can be used to support decision-making when prescribing medications. In addition to the genome, there are several other factors affecting an individual's response to medications. Services based on genome data still need testing before they can be extensively introduced as part of health care, explains Professor of Pharmacogenetics and Chief Physician Mikko Niemi of HUSLAB.

Building Finnish genome expertise

At present, Finnish genome data is stored in several different systems and databases. A large percentage of the genetic data produced by Finnish research groups is sequenced and analysed outside of Finland.

In the spring of 2016, the Finnish Government decided to establish the Finnish Genome Center and begin preparations for it. The Genome Center would be responsible for establishing national structures as well as the creation and maintenance of a genome database.

As a part of the study a workflow will be created for storing genetic data and combining it with data from patient records, as well as to facilitate the secure sharing of genetic data for use in research and health care. CSC's expertise in the management of sensitive data will be utilised, and the knowledge gained through the research can later be applied in the operations of the new Genome Center.

Private networks will be established between CSC and HUS as well as between CSC and THL. HUS and THL can use these networks to securely increase their data processing capacity in CSC's data centre in Finland. Personal data will be processed in accordance with the Personal Data Act and Patient Data Act, and on the grounds of scientific research.

– The secure and effective management of genome data needs a sound foundation. The level of technological competence in Finland is world-class, but the challenges posed by the interpretation and management of biological data are too big for a single country to try and build the entire necessary infrastructure on its own. Through research co-operation, we will seek out the best international technologies and integrate them with Finnish expertise, in order to implement the pharmacology application in an appropriate way, explains ELIXIR Head of Node and member of the Genome Center working group, Tommi Nyrönen of CSC.

Co-ordinated by CSC, the project will be jointly carried out by CSC, THL and HUS experts and specialists in 2017–2018. The project has been commissioned by the Ministry of Social Affairs and Health. Research progress and project results will be reported to, among others, the Genome Center working group appointed by the Ministry.


  • The study is based on population data provided by the THL Biobank. The population data contains genome data of 30,000 people collected in adherence to the legal frameworks. The exome sequencing data is available for 10,000 of these. HUS patient data is also being used in the study.
  • Preparations are being made at CSC to ensure sufficient long-term storage capacity at the ELIXIR Finland Node, provide a data transfer rate of at least 10 Gbps between HUS and THL systems, and offer the necessary number of virtual servers to the pharmacogenetics environment for the processing of data.


Additional information:

Ministry of Social Affairs and Health
Special Adviser Jaakko Yrjö-Koskinen, tel. +358 (0)295 163 584,

Chief Physician, Professor of Pharmacogenetics Mikko Niemi, tel. +358 (0)50 428 0998,

Senior Researcher, Kati Kristiansson, tel. 029 524 8819,

Project Manager Mats Lindstedt, tel. +358 (0)44 575 7171,

CSC – IT Center for Science
ELIXIR Finland
Additional information on the subject (in Finnish)