Linking a population biobank with national health registries-the estonian experience

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.

Figure 1

Timeline of the data collection procedures. The timeline showing the recruitment period, re-contacting projects, and frequency and timing of linking with registries and databases. Recruitment—Baseline data collection at the recruitment visit; Re-contacting—2nd timepoint data collection in re-contacting projects; Pop. Reg.—Population Register; Death Reg.—Estonian Causes of Death Registry; ENHIS—Estonian National Health Information System; HIF—Estonian Health Insurance Fund; Cancer Reg.—Estonian Cancer Registry; Tub. Reg.—Estonian Tuberculosis Registry; University Hospital—Database of the Tartu University Hospital; North Estonia Medical Center—Database of the North Estonia Medical Centre; MI Reg.—Myocardial Infarction Registry.

Figure 2

An individuals’ disease trajectory. A participant born in 1970 and recruited in 2007. Different data sources or collection methods are color coded; green—information gathered at the baseline interview, red—retrieved from Health Insurance Fund database, and blue—retrieved from the Northern Estonian Medical Center. The health status updates coded according to the ICD-10.