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Iranian Association of Medical InformaticsFrontiers in Health Informatics2676-710410120210817Integration of genomics data and electronic health records toward personalized medicine: A targeted review29929910.30699/fhi.v10i1.299ENAliNajafiMolecular Biology Research Center, Systems Biology and Poisonings Institute, Baqiyatallah University of Medical Sciences, Tehran,. najafi74@yahoo.comNedaEmamiTahaSamad-Soltani2021042620210817Background: Integration of rapidly expanding high-throughput omics technologies and electronic health record (EHR) has created an unprecedented advantage in terms of acquiring routine healthcare data in order to accelerate genetic discovery. In this regard, EHR can also provide several important advantages to omics research if the integration challenges are well handled. The main purpose of the present study was to review available and published knowledge in the related literature and then to classify and discuss stakeholders’ requirements in this domain.Methods: At first, a broad electronic search of all available literature in English was conducted on the topic through a search in the databases of Medline, Web of Science, Institute of Electrical and Electronics Engineers (IEEE) and Scopus. Then, stakeholders’ requirements were tabulated and finally word cloud was generated and analyzed to achieve functional and non-functional cases. Results: 81 articles were included in the given analysis. Integration requirements also consisted of nine functional cases including a uniform approach to interpretation of genetic tests, standardized terminologies and ontologies, structured data entry as much as possible, an integrated online patient portal, multiple data source handling, machine readable storing and reporting, research-oriented requirements, pharmacogenomics decision support capabilities, and phenotyping algorithms and knowledge base. Besides, there were three non-functional cases comprised of interoperability of multiple systems, ethical, legal, security factor and big data computations.Conclusion: The main challenges in this way could also have semantic and technical themes. Therefore, system developers could guarantee the success of systems by overcoming the given challenges.Keywords: Genetics, Personalized, Precision, Electronic, Record, Pharmacogenomics


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