運用基因檢測科技促進健康管理-以某生醫科技個案為例

隨著科學研究的進步和相關醫療技術發展，人類的身體健康狀況卻不因此而減少威脅。進而造就了基因檢測科技蓬勃地開展，利用萃取DNA，找到致病基因的根源，對疾病風險的預測，在尚未出現症狀前，篩檢與找出某些特定隱性遺傳相關連之缺陷或產生變異基因是否存在，加以預防或治療。在二十一世紀科技領先的時代，透過「大數據」分析資料的整合，將這些資訊作為發展預防醫學、疾病診斷與治療、精準醫療的藥物選擇或新藥開發標的研究者的參考依據，更能為此減少醫療資源浪費、子女照顧的沈重負擔及整體國家社會上財政的負擔，亦能有所幫助。因此，可以根據健康管理理念，做出最合適的健康管理與最佳治療方式，盡可能從「治療」推進到「預防」的落實，一直都是醫師以及病人追求的夢想。本研究以案例推理之目的係為釐清受檢者的問題，利用臺灣人體生物資料庫輔助，形成基因數據案例資料庫經驗累積，提升基因報告說明書的公信力，讓受檢者的問題定義更為完整，增加資料的有用性，達到案例知識分享的目的及加乘效果，朝向健康管理的目標更邁進一步；而限制理論則以潛在風險評估，調整、預先防範控制及擬定策略。結果顯示限制理論所提出的解決方案確實可作為預防疾病的參考依據為健康把關，輕鬆地做好最有效的健康管理。

關鍵字

基因檢測；大數據；健康管理；案例推理；限制理論

並列摘要

With the advancement of scientific research and the development of related medical technologies, the health issues of mankind have not been reduced. In order to monitor any health issue before it occurs, genetic testing technology has been developed using DNA extraction to find disease-causing genes and predicting disease risks before the symptoms appear. The aim is to screen the existence of defects or mutated genes associated with certain recessive genetic diseases in order to improvise preventive measures or treat them. In Today’s technological era, the use of huge information through "Big Data" analytics enables researchers to develop preventive medicine, disease diagnosis and treatment, as well as precision medicine and new drug development. Preventive medicine can reduce the waste of medical resources, and the financial burden of the society. Therefore, Genetic Testing allows appropriate health management and treatment, changing the concept of "treatment" to "prevention", a dream for both doctors and patients. The case-based reasoning methodology in this study is done by applying the Theory of Constraints which is based on potential risk assessment, adjustment, precautionary control, and strategy development. We use a real biological database from an individual as a genetic data case study; this enhances the credibility of the gene report specification. The accuracy is enhanced through the use of Big Data. The contribution of our study provides insights for disease prevention and enable effective health management.