Integration of Genomics Data and Electronic Health Records Toward Personalized Medicine: A Targeted Review

Ali Najafi, Neda Emami, Taha Samad-Soltani



Introduction: 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 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.

Material and 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), Scopus, and Cochrane. Then, stakeholders’ requirements were tabulated, and finally, a word cloud was generated and analyzed to achieve functional and non-functional cases.

Results: A total of 81 articles were included in the given analysis. Integration requirements also consisted of nine functional cases including a uniform approach to the 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.


Genetics; Personalized; Precision; Electronic Record; Pharmacogenomics


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