Incorporation of personal Single Nucleotide Polymorphism (SNP) data into a national level electronic health record for disease risk assessment, part 2: The incorporation of SNP into the national health information system of Turkey

Beyan T., AYDIN SON Y.

Journal of Medical Internet Research, vol.16, no.8, 2014 (Journal Indexed in SCI Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 8
  • Publication Date: 2014
  • Doi Number: 10.2196/medinform.3555
  • Title of Journal : Journal of Medical Internet Research


©Timur Beyan, Yeşim Aydin Son.Background: A personalized medicine approach provides opportunities for predictive and preventive medicine. Using genomic, clinical, environmental, and behavioral data, the tracking and management of individual wellness is possible. A prolific way to carry this personalized approach into routine practices can be accomplished by integrating clinical interpretations of genomic variations into electronic medical record (EMR)s/electronic health record (EHR)s systems. Today, various central EHR infrastructures have been constituted in many countries of the world, including Turkey. Objective: As an initial attempt to develop a sophisticated infrastructure, we have concentrated on incorporating the personal single nucleotide polymorphism (SNP) data into the National Health Information System of Turkey (NHIS-T) for disease risk assessment, and evaluated the performance of various predictive models for prostate cancer cases. We present our work as a miniseries containing three parts: (1) an overview of requirements, (2) the incorporation of SNP into the NHIS-T, and (3) an evaluation of SNP data incorporated into the NHIS-T for prostate cancer. Methods: For the second article of this miniseries, we have analyzed the existing NHIS-T and proposed the possible extensional architectures. In light of the literature survey and characteristics of NHIS-T, we have proposed and argued opportunities and obstacles for a SNP incorporated NHIS-T. A prototype with complementary capabilities (knowledge base and end-user applications) for these architectures has been designed and developed. Results: In the proposed architectures, the clinically relevant personal SNP (CR-SNP) and clinicogenomic associations are shared between central repositories and end-users via the NHIS-T infrastructure. To produce these files, we need to develop a national level clinicogenomic knowledge base. Regarding clinicogenomic decision support, we planned to complete interpretation of these associations on the end-user applications. This approach gives us the flexibility to add/update envirobehavioral parameters and family health history that will be monitored or collected by end users. Conclusions: Our results emphasized that even though the existing NHIS-T messaging infrastructure supports the integration of SNP data and clinicogenomic association, it is critical to develop a national level, accredited knowledge base and better end-user systems for the interpretation of genomic, clinical, and envirobehavioral parameters.