Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example

Abstract

The current paradigm of personalized medicine envisages the use of genomic data to provide predictive information on the health course of an individual with the aim of prevention and individualized care. However, substantial efforts are required to realize the concept: enhanced genetic discoveries, translation into intervention strategies, and a systematic implementation in healthcare. Here we review how further genetic discoveries are improving personalized prediction and advance functional insights into the link between genetics and disease. In the second part we give our perspective on the way these advances in genomic research will transform the future of personalized prevention and medicine using Estonia as a primer.

Common clinical blood and urine biomarkers for ischemic stroke: an Estonian Electronic Health Records database study

“…The EstBB database has been described elsewhere [ 16 , 19 ]. Briefly, it is a general population-based biobank (University of Tartu) containing many layers of data for 200,000 inhabitants of Estonia (20% of the adult population) over 18 years of age.…”

“…The clinical parameters (CPs) from nation-wide healthcare facilities were not retrievable for research until the advent of digitizing the medical system. Estonia’s Electronic Health Records (EHR) database stores medical information for the procedures, carried out in the hospitals and primary care facilities, and the corresponding epicrises data [ 16 , 17 ]. As all Estonian hospitals use the EHR system this database has population-wide coverage.…”

“…The Estonian Biobank (EstBB) encompasses genetic and medical data for 20% of Estonia’s adult population and represents well the whole Estonian population [ 16 ]. The work of EstBB is governed by The Human Gene Research Act (HGRA) [ 18 ].…”

The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

“…It was frequently mentioned that the short-term funding of genomic programmes could hamper long-term continuity [26,29,32], and without palpable high-quality evidence, some governments could not justify creating ongoing publicly funded programmes [28]. Authors also frequently mentioned the need for an infrastructure capable of storing a large amount of confidential data and keeping up with the rapidly evolving technological landscape of genomics [16,20,21,24,27,[32][33][34][35]. Many articles also emphasised the importance of setting up an evaluation framework to obtain feedback and make changes [18,27,[36][37][38].…”

“…Some articles also highlighted that having transparent and standardised clinical pathways facilitated implementation [18,24], but this needs to be accompanied by training programmes for healthcare providers to be effective [3,20,22,25,30,37,[42][43][44]. Finally, topics such as culturally appropriate communication for patients and families, time efficiency in the delivery of services and interdisciplinarity of the staff involved were also mentioned as integral parts of programme implementation [9,20,21,23,25,27,32,34,35,41]. Additional information can be found below in (Table 3).…”