Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives

Genetic disorders are the main causes of many other diseases. Integrating genetic data into Electronic Health Records (EHRs) can facilitate the management of genetic information and care of patients in clinical practices. The aim of this study was to identify the main requirements for integrating genetic data into the EHR system from the medical geneticists' perspectives.

The research was completed in 2018 and consisted of two phases. In the first phase, the main requirements for integrating genetic data into the EHR system were identified by reviewing the literature. In the second phase, a 5-point Likert scale questionnaire was developed based on the literature review and the results derived from the first phase. Then, the Delphi method was applied to reach a consensus about the integration requirements.

The findings of the first phase showed that data elements, including patients' and healthcare providers' personal data, clinical and genetic data, technical infrastructure, security issues and functional requirements, should be taken into account before data integration. In the second phase, a consensus was reached for most of the items (mean ≥3.75). The items with a mean value of less than 2.5 did not achieve a consensus and were removed from the final list.

The integration of genetic data into the EHRs can provide a ground for increasing accuracy and precision in the diagnosis and treatment of genetic disorders. Such integration requires adequate investments to identify users' requirements as well as technical and non-technical issues.