Abstract
Operational system for excellence in medical bioinformatics for lower southern Thailand in health region 12 is a fundamental implementation of genomic medicine in South of Thailand co-operated by the Faculty of Medicine, Prince of Songkhla University and Health Systems Research Institute, Ministry of Public Health. To integrate genomic medicine into the healthcare system in the Heath Region 12, infrastructures including clinical data management, biological sample processing and storage and certified molecular laboratory were considered to be organized in Translational Medicine Research Center (TMRC), Songklanagarind Hospital. Not only infrastructure standardization, but the project has also consent volunteers for clinical data and biological sample retrieval under the approval of the Human Ethical Committee, Faculty of Medicine, Prince of Songkla University. To achieve goal of the study, we included 175 participants covering 3 major genetic associated diseases (hereditary cancer, rare diseases and infectious diseases). Moreover, clinical data and specimens were collected under standard operation procedure of Genomic Thailand Consortium and consecutively shipped to Department of Medical Science, Ministry of Public Health. For the leftover specimens, whole exome sequencing was performed to intensively discover pathogenic variants related to respective participants and their families. Ultimately, annotated exome sequences were comprehensively integrated to establish aggregated exome database which provides useful clinical implication of each variant and regional specific minor allele frequency as a public database. In conclusion, our project has laid infrastructures for genomic medicine and linked them to the clinical environment in the South of Thailand.
