後疫情時代精準醫療到精準健康的轉譯之路

Translation Road from Precision Medicine to Precision Health after SARS-CoV2 pandemic

王怡人(I-Jen Wang)；王淑麗(Shu-Li Wang)

精準醫療 ； 生物資料庫 ； 基因體學 ； 暴露體學 ； 世代追蹤 ； 兒童 ； Precision medicine ； Biobank ； Genomics ； Exposome ； Cohort follow-up ； Children

醫學與健康期刊

12卷3期（2023 / 11 / 01）

1 - 10

繁體中文;英文

精準醫療透過伴隨式診斷、生物標記和分子篩檢診斷等先進技術，能夠運用大數據分析，找出對每人最適合的治療方式。吾人還可考慮個人基因、生活型態和臨床等資訊，進一步追蹤族群健康狀況，即所謂『精準健康』。通過觀察疾病歷史和基因、環境的相互作用，可建立更精準的風險預測模型，減少醫療資源的浪費，最大化治療效果。投資兒童精準醫療，快速找到致病基因或環境成因，早期篩檢精準有效預防保，也可減少醫療費用，減少嬰兒死亡率。如英國正建立一20萬個新生兒家族的出生世代資料庫，運用精準醫療技術檢測可治療的疾病，早日發現致病基因或環境因素。通過結合基因體和暴露體資訊，深入探討疾病成因，能使族群生命早期開始遠離疾病，邁向精準健康。疫情加速了數位轉型，然精準醫療如何轉型成精準健康？將分成三部分加以論述：一、疫情下的精準醫療；二、基因、環境與精準醫療－世代追蹤的考量和多體學的應用；三、從精準醫療到健康之推動建議。

Precision medicine utilizes advanced techniques such as companion diagnostics, biomarkers, and molecular screening to apply big data analysis in order to identify the most suitable treatment approach for each individual. It also takes into consideration individual genetics, lifestyle, and clinical information to further monitor the health status of populations, known as "precision health." By observing the interaction between disease history and genetics, as well as environmental factors, more precise risk prediction models can be established, reducing the wastage of healthcare resources and maximizing treatment effectiveness. Investing in precision medicine for children allows for the rapid identification of disease-causing genes or environmental factors, enabling early and accurate screening for prevention. It can also reduce healthcare costs and decrease infant mortality rates. For example, the UK is currently establishing a database containing the birth generation data of 200,000 newborn families. This database utilizes precision medicine techniques to detect treatable diseases and identify disease-causing genes or environmental factors at an early stage. By combining genomic and exposomic information, it delves deep into the causes of diseases, allowing populations to begin their lives with a reduced risk of illness and moving toward precision health. The COVID-19 pandemic has accelerated digital transformation, but how does precision medicine transition into precision health? This will be discussed in three parts: 1. Precision medicine during the pandemic; 2. Considerations involving genes, environment, and precision medicine, including generational tracking and the application of multi-body studies; 3. Recommendations for progressing from precision medicine to overall health.

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