In this paper, we describe a strategy for the development of a genetic analysis comprehensive representation. The primary intention is to ensure the available utilization of genetic analysis results in clinical practice. The system is called Personnel Genetic Card (PGC), and it is developed in cooperation of CIIRC CTU in Prague and the Mediware company. Nowadays, genetic information is more and more part of medicine and life quality services (e.g. nutritional consulting). Therefore, there is necessary to bind genetic information with the clinical phenotype, such as drug metabolism or intolerance to various substances. We proposed a structured form of the record, where we utilize the LOINC® standard to identify genetic test parameters, and several terminology databases for representing specific genetic information (e.g. HGNC, NCBI RefSeq, NCBI dbNSP, HGVS). Further, there are also several knowledge databases (PharmGKB, SNPedia, ClinVar) that collect interpretation for genetic analysis results. In the results of this paper, we describe our idea in the structure and process perspective. The structural perspective includes the representation of the analysis record and its binding with the interpretations. The process perspective describes roles and activities within the PGC system use.
IOS Press, Inc.
6751 Tepper Drive
Clifton, VA 20124
Tel.: +1 703 830 6300
Fax: +1 703 830 2300 firstname.lastname@example.org
(Corporate matters and books only) IOS Press c/o Accucoms US, Inc.
For North America Sales and Customer Service
West Point Commons
Lansdale PA 19446
Tel.: +1 866 855 8967
Fax: +1 215 660 5042 email@example.com