Abstract
The Estonian population-based biobank, with 52,000 participants’ genetic and health data, is the largest epidemiological cohort in the Baltic region. Participants were recruited through a network of medical professionals throughout Estonia (population 1.34 million). Unique legislation as well as a broad consent form give the Estonian Genome Center, a research institute of the University of Tartu, permission to re-contact participants and to retrieve participants’ data from national registries and databases. In addition to two re-contacting projects to update the health data of participants, extensive clinical characterizations have been retrieved from national registries and hospital databases regularly since 2010. Acquiring data from electronic health records and registries has provided a means to update and enhance the database of the Genome Center in a timely manner and at low cost. The resulting database allows a wide spectrum of genomic and epidemiological research to be conducted with the aim of benefitting public health. Future plans include linking the genome center database with the national health information system through X-road and exchanging data in real time, as well as using the genetic data and the technical infrastructure available for piloting personalized medicine in Estonia.
Highlights
We have investigated the situation in Estonia, where the nation wide health database of the Estonian National Health Information System (ENHIS) and other more specific registries are available in respect to improving the phenotypic content of the biobank database
Through re-contacting and regular data retrieval from Electronic health records (EHRs) and national registries EGCUT possesses extensive follow-up data, including the confirmed diagnoses, clinical visits, laboratory analyses, treatment information as well as costs of health-care services that accompany the genetic information of participants
In 2014, the Estonian Government allocated funds to establish a plan towards personalized medicine based on modern gene technology [9]
Summary
In the advent of personalized (precision) medicine, the linking of biobanks with the electronic medical records and health databases is the most crucial step. The vision for the future is that the ENHIS database and molecular profiling data of the patients will be used to calculate disease risk and likely drug response. Since both databases (ENHIS database and the Estonian Biobank database) are continually improving, estimates of the disease risk(s) and probable drug response must be re-calculated regularly. This can be done automatically and at a large scale only when these two databases are connected in real time. This paper describes some of the steps taken towards this goal and issues met during the process
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