Huang Sui, Hood Leroy
Perspect Biol Med. 2019;62(4):617-639. doi: 10.1353/pbm.2019.0036.
"Omics technologies" now permit cost-effective molecular profiling of the human body at many phenotypic levels and over time, thus reaching far beyond the static personal genome. Such deep, dense, and dynamic analysis has exposed the uniqueness of each person with respect to health and disease in unprecedented ways, raising paradigm-disrupting questions. How valid is our medical knowledge, traditionally obtained in studies of large cohorts to produce care recommendations for a fictive "average" human, if no two people are the same? If response to treatment is different in two patients with the same diagnosis, is this because they suffer from two distinct subtypes of a disease, or because they differ in the physiology that manifests the same disease? Such questions have evoked terms, such as personalized, precision, or "N-of-one" medicine, creating potential for confusion. This article offers a terminological and conceptual delineation and presents a new approach to personal care that relies on understanding the system dynamics of an individual as opposed to relying on statistical associations. A clarification of these terms and concepts is necessary to comprehend the vision of 21st-century medicine that will harness big data to deliver "scientific wellness" for individuals.
“组学技术”现在能够以具有成本效益的方式，在多个表型层面并随时间推移对人体进行分子剖析，从而远远超越了静态的个人基因组。这种深入、密集且动态的分析以前所未有的方式揭示了每个人在健康和疾病方面的独特性，引发了颠覆传统范式的问题。如果没有两个人是完全相同的，那么我们传统上通过对大量队列研究得出的、为虚构的“平均”人类制定护理建议的医学知识有多大的有效性呢？如果两名患有相同诊断疾病的患者对治疗的反应不同，这是因为他们患的是该疾病的两种不同亚型，还是因为他们在表现相同疾病的生理机能方面存在差异呢？诸如此类的问题催生了诸如个性化医疗、精准医疗或“单一个体”医学等术语，这可能会造成混淆。本文对这些术语和概念进行了界定，并提出了一种新的个人护理方法，该方法依赖于理解个体的系统动力学，而不是依赖于统计关联。为了理解21世纪利用大数据为个体提供“科学健康”的医学愿景，有必要对这些术语和概念进行澄清。
