Department of Laboratory Medicine, University of Toronto, Toronto, Canada.
Mol Cancer Res. 2010 Sep;8(9):1175-87. doi: 10.1158/1541-7786.MCR-10-0264. Epub 2010 Aug 6.
Personalized medicine (PM) is defined as "a form of medicine that uses information about a person's genes, proteins, and environment to prevent, diagnose, and treat disease." The promise of PM has been on us for years. The suite of clinical applications of PM in cancer is broad, encompassing screening, diagnosis, prognosis, prediction of treatment efficacy, patient follow-up after surgery for early detection of recurrence, and the stratification of patients into cancer subgroup categories, allowing for individualized therapy. PM aims to eliminate the "one size fits all" model of medicine, which has centered on reaction to disease based on average responses to care. By dividing patients into unique cancer subgroups, treatment and follow-up can be tailored for each individual according to disease aggressiveness and the ability to respond to a certain treatment. PM is also shifting the emphasis of patient management from primary patient care to prevention and early intervention for high-risk individuals. In addition to classic single molecular markers, high-throughput approaches can be used for PM including whole genome sequencing, single-nucleotide polymorphism analysis, microarray analysis, and mass spectrometry. A common trend among these tools is their ability to analyze many targets simultaneously, thus increasing the sensitivity, specificity, and accuracy of biomarker discovery. Certain challenges need to be addressed in our transition to PM including assessment of cost, test standardization, and ethical issues. It is clear that PM will gradually continue to be incorporated into cancer patient management and will have a significant impact on our health care in the future.
个性化医学(PM)被定义为“一种利用个体的基因、蛋白质和环境信息来预防、诊断和治疗疾病的医学形式”。PM 的承诺已经存在多年。PM 在癌症中的临床应用广泛,包括筛查、诊断、预后、预测治疗效果、手术后患者的随访以早期发现复发,以及将患者分层为癌症亚组类别,从而实现个体化治疗。PM 旨在消除以平均反应为基础的“一刀切”的医学模式,这种模式主要关注疾病的反应。通过将患者分为独特的癌症亚组,可以根据疾病的侵袭性和对特定治疗的反应能力,为每个个体量身定制治疗和随访方案。PM 还将患者管理的重点从初级患者护理转移到高危个体的预防和早期干预。除了经典的单一分子标志物外,还可以使用高通量方法进行 PM,包括全基因组测序、单核苷酸多态性分析、微阵列分析和质谱分析。这些工具的一个共同趋势是它们能够同时分析许多目标,从而提高生物标志物发现的敏感性、特异性和准确性。在向 PM 过渡中需要解决某些挑战,包括评估成本、测试标准化和伦理问题。很明显,PM 将逐渐被纳入癌症患者管理,并将对我们未来的医疗保健产生重大影响。