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

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. ©timur beyan,yeşim aydin son.