Loscalzo Joseph, Kohane Isaac, Barabasi Albert-Laszlo
Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Mol Syst Biol. 2007;3:124. doi: 10.1038/msb4100163. Epub 2007 Jul 10.
Contemporary classification of human disease derives from observational correlation between pathological analysis and clinical syndromes. Characterizing disease in this way established a nosology that has served clinicians well to the current time, and depends on observational skills and simple laboratory tools to define the syndromic phenotype. Yet, this time-honored diagnostic strategy has significant shortcomings that reflect both a lack of sensitivity in identifying preclinical disease, and a lack of specificity in defining disease unequivocally. In this paper, we focus on the latter limitation, viewing it as a reflection both of the different clinical presentations of many diseases (variable phenotypic expression), and of the excessive reliance on Cartesian reductionism in establishing diagnoses. The purpose of this perspective is to provide a logical basis for a new approach to classifying human disease that uses conventional reductionism and incorporates the non-reductionist approach of systems biomedicine.
当代人类疾病分类源于病理分析与临床综合征之间的观察性关联。以这种方式对疾病进行特征描述建立了一种疾病分类学，它在当前一直很好地服务于临床医生，并且依赖观察技能和简单的实验室工具来定义综合征型表型。然而，这种历史悠久的诊断策略存在重大缺陷，既反映出在识别临床前疾病方面缺乏敏感性，也反映出在明确界定疾病方面缺乏特异性。在本文中，我们关注后一个局限性，将其视为许多疾病不同临床表现（可变表型表达）以及在确立诊断时过度依赖笛卡尔还原论的一种反映。这一观点的目的是为一种新的人类疾病分类方法提供逻辑基础，该方法采用传统还原论并纳入系统医学的非还原论方法。
