Ziegelstein Roy C
Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
J Pers Med. 2017 Oct 16;7(4):11. doi: 10.3390/jpm7040011.
Clinical practice guidelines have been developed for many common conditions based on data from randomized controlled trials. When medicine is informed solely by clinical practice guidelines, however, the patient is not treated as an individual, but rather a member of a group. Precision medicine, as defined herein, characterizes unique biological characteristics of the individual or of specimens obtained from an individual to tailor diagnostics and therapeutics to a specific patient. These unique biological characteristics are defined by the tools of precision medicine: genomics, proteomics, metabolomics, epigenomics, pharmacogenomics, and other "-omics." Personalized medicine, as defined herein, uses additional information about the individual derived from knowing the patient as a person. These unique personal characteristics are defined by tools known as personomics which takes into account an individual's personality, preferences, values, goals, health beliefs, social support network, financial resources, and unique life circumstances that affect how and when a given health condition will manifest in that person and how that condition will respond to treatment. In this paradigm, precision medicine may be considered a necessary step in the evolution of medical care to personalized medicine, with personomics as the missing link.
基于随机对照试验的数据，已经针对许多常见病症制定了临床实践指南。然而，当医学仅依据临床实践指南时，患者并非被当作个体来治疗，而是被视为群体中的一员。本文所定义的精准医学，是指对个体或从个体获取的标本的独特生物学特征进行表征，以便为特定患者量身定制诊断和治疗方案。这些独特的生物学特征由精准医学工具来定义：基因组学、蛋白质组学、代谢组学、表观基因组学、药物基因组学以及其他“组学”。本文所定义的个性化医学，则利用从了解患者个人情况中获得的关于个体的额外信息。这些独特的个人特征由称为“人组学”的工具来定义，该工具考虑个体的个性、偏好、价值观、目标、健康信念、社会支持网络、财务资源以及影响特定健康状况在该个体中如何以及何时显现以及该状况将如何对治疗作出反应的独特生活境遇。在这种范式下，精准医学可被视为医疗向个性化医学发展过程中的必要一步，而人组学则是缺失的环节。
