Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example
Abstract
:1. Progress of Genomic Technologies Enabling Personalized Medicine
1.1. Overcoming the Limitations of Genetic Loci Discovery
1.1.1. Power Gains Through Sample Size Increase
1.1.2. Public Availability of GWAS (Results) Data
1.1.3. Increase in Resolution
Population Sequencing
Addressing Neglected Parts of the Genome
Fine-Mapping
1.1.4. Increase in Throughput and Moving towards ‘Big Data’
1.2. Increase in Understanding (from Genotype to Phenotype)
1.3. Impact of Genetic Discoveries and Clinical Relevance
1.3.1. Risk Prediction and Causal Inference
1.3.2. Disease Stratification and Tailored Clinical Surveillance/Management
1.3.3. Personalized Treatment
2. Estonia as a Primer for Personalized Medicine
2.1. Favorable Circumstances
2.2. Biobank Cohort, Data Collected and Generated
2.3. Translational Research in Genomics
2.4. National Personalized Medicine Pilot Projects
3. Challenges and Pitfalls of Personalized Medicine Implementation in Estonia and Beyond
3.1. Scientific Challenges
3.2. Data Security and Privacy Challenges
3.3. Challenges in Communicating Research Results
4. Future Outlook for Personalized Medicine in Estonia and Beyond
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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Prins, B.P.; Leitsalu, L.; Pärna, K.; Fischer, K.; Metspalu, A.; Haller, T.; Snieder, H. Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example. J. Pers. Med. 2021, 11, 358. https://doi.org/10.3390/jpm11050358
Prins BP, Leitsalu L, Pärna K, Fischer K, Metspalu A, Haller T, Snieder H. Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example. Journal of Personalized Medicine. 2021; 11(5):358. https://doi.org/10.3390/jpm11050358
Chicago/Turabian StylePrins, Bram Peter, Liis Leitsalu, Katri Pärna, Krista Fischer, Andres Metspalu, Toomas Haller, and Harold Snieder. 2021. "Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example" Journal of Personalized Medicine 11, no. 5: 358. https://doi.org/10.3390/jpm11050358