ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-analysis of pharmacogenetic clinical decision support systems for the treatment of major depressive disorder.The pharmacogenomics journal · 2023Pooled it
- The Spanish Polygenic Score reference distribution: a resource for personalized medicine.European journal of human genetics : EJHG · 2026Article
- Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6.NPJ genomic medicine · 2026Article
- Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol.PloS one · 2026Article
- Opportunities and Challenges of Population Pharmacogenomics.Annals of human genetics · 2025Review
- Pharmacogenetic Testing in the Outpatient Setting in Switzerland: A Descriptive Study Using Swiss Claims Data.Drug safety · 2025Article
- Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes.Human genomics · 2025Article
- The Estonian Biobank's journey from biobanking to personalized medicine.Nature communications · 2025Review
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data.Clinical pharmacology and therapeutics · 2025Article
- Socio-demographic and genetic risk factors for drug adherence and persistence across 5 common medication classes.Nature communications · 2024Article
- Biobanks in chronic disease management: A comprehensive review of strategies, challenges, and future directions.Heliyon · 2024Review
- Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip.Frontiers in pharmacology · 2024Article
- Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank.European journal of human genetics : EJHG · 2023Article
- Pharmacogenomics: current status and future perspectives.Nature reviews. Genetics · 2023Review
- A retrospective analysis of preemptive pharmacogenomic testing in 22,918 individuals from China.Journal of clinical laboratory analysis · 2023Article
- Identifying the prevalence of clinically actionable drug-gene interactions in a health system biorepository to guide pharmacogenetics implementation services.Clinical and translational science · 2023Article
- Interrogating the Human Diplome: Computational Methods, Emerging Applications, and Challenges.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Challenges Related to the Use of Next-Generation Sequencing for the Optimization of Drug Therapy.Handbook of experimental pharmacology · 2023Article
- Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data.Frontiers in pharmacology · 2023Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBiomedical databases combining electronic medical records and phenotypic and genomic data constitute a powerful resource for the personalization of treatment. To leverage the wealth of information provided, algorithms are required that systematically translate the contained information into treatment recommendations based on existing genotype-phenotype associations.
methodsWe developed and tested algorithms for translation of preexisting genotype data of over 44,000 participants of the Estonian biobank into pharmacogenetic recommendations. We compared the results obtained by genome sequencing, exome sequencing, and genotyping using microarrays, and evaluated the impact of pharmacogenetic reporting based on drug prescription statistics in the Nordic countries and Estonia.
resultsOur most striking result was that the performance of genotyping arrays is similar to that of genome sequencing, whereas exome sequencing is not suitable for pharmacogenetic predictions. Interestingly, 99.8% of all assessed individuals had a genotype associated with increased risks to at least one medication, and thereby the implementation of pharmacogenetic recommendations based on genotyping affects at least 50 daily drug doses per 1000 inhabitants.
conclusionWe find that microarrays are a cost-effective solution for creating preemptive pharmacogenetic reports, and with slight modifications, existing databases can be applied for automated pharmacogenetic decision support for clinicians.
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