In the Genomkit project, the goal is to design and create microarray chips for three fields: pharmaco-genetics, nutri-genetics, sport-genetics. Furthermore, a system for genetics analysis interpretation is essential for using of the genetics test in a clinical practice. We develop a system that integrate results of genetic analysis and existing genetic interpretation. This system we call Personal Genetic Card (PGC). Defined parameters of the genetic test are represented by LOINC, the values are simple data types (numbers, string) or defined by terminology databases (HGNC, NCBI dbSNP, LOINC, SNOMED). The interpretation can be divided into two forms. First, each part of the test (e.g. each polymorphism) has partial interpretations, where the number of interpretations is given by number of polymorphisms and number of factors. Second, the test can have a summary interpretation for each defined factor. This summary represents the overall recommendation for the factor and cannot be related to partial interpretations. These two interpretation types are predefined in the genetic card by the provider and associated with the possible analysis results. All interpretations must refer to valid scientific studies. The initial process is a request of the analysis from a physician/expert within a (medical) examination. The second step is the genetic analysis performed by the laboratory. After results upload into the PGC, the predefined interpretations are automatically assigned to the results. The predefined interpretations are created by expert team on the side of the system provider and imported into the PGC system. All the data of analysis bound with interpretations are symmetrically encrypted before storing. Finally, the physician can display the interpretations and recommendations and use them for clinical purpose, e.g. drug administration.
This project is supported by the grant of the Ministry of Industry and Trade of the Czech Republic No. 2018 FV30421 GENOMKIT – Progressive technology for the rationalization of personalized pharmacogenomics, nutrigenomics and sports medicine.