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Data-driven precision medicine ecosystem

Biobank study

In the framework of the PreMed project a biobank study will be carried out:  Pharmacogenomics of antithrombotic drugs (PreMed PGx study).  The overall goal  of the study is to investigate the feasibility of using genome data in the context of antithrombotic therapy. At the same time, the purpose of the study is to reveal practical experience on the access processes for biobank and registry data, in order to understand current challenges and to identify needed improvements.   

Background

Antithrombotic drugs are used in the context of clinical conditions (e.g. attrial fibrillation) and procedures (e.g. valve operations) to prevent thrombosis. Based on earlier pharmacogenetic studies a number of gene variants associated with the metabolism of antithrombotic drugs have been identified. For example, the anticoagulation effect of warfarin can be stronger based on the genotype, thereby leading to a higher risk of bleeding caused by the drug therapy. For the direct oral anticoagulants the pharmacogenomics has not yet been widely studied. However, initial studies indicate possible genotype associations also for them.

Objectives

The objective of this retrospective study is to assess the relevance of using genotype data in the context of antithrombotic drug therapy. The study will be based on FinnGen genome data collected by biobanks and combined with patient record and national register data. The research study aims to provide evidence on the known genotype associations of warfarin in the Finnish population and to investigate clinical and economic relevance of using genome data in guiding warfarin treatment.  The explorative part of the study will investigate genotype-phenotype associations for a larger group of antithrombotic drugs, including direct oral anticoagulants, clopidogrel and heparin.

Impact

The results of the study can be used in decision-making about deploying new care practices and guidelines. In combining information from several sources, the project collects experiences about the processes and related bottlenecks concerning secondary use of clinical data. This way, the outputs of the project will produce useful information supporting the development of the national service operator and centralized biobank services.