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精准医学的里程碑:创新性多学科概述

Milestones of Precision Medicine: An Innovative, Multidisciplinary Overview.

作者信息

García-Foncillas Jesús, Argente Jesús, Bujanda Luis, Cardona Victoria, Casanova Bonaventura, Fernández-Montes Ana, Horcajadas José A, Iñiguez Andrés, Ortiz Alberto, Pablos José L, Pérez Gómez María Vanessa

机构信息

Department of Oncology, Oncohealth Institute, Fundacion Jimenez Diaz University Hospital, Autonomous University, Madrid, Spain.

Medical Oncology Department, University Hospital Fundación Jiménez Díaz-Universidad Autonoma de Madrid, Madrid, Spain.

出版信息

Mol Diagn Ther. 2021 Sep;25(5):563-576. doi: 10.1007/s40291-021-00544-4. Epub 2021 Jul 30.

Abstract

Although the concept of precision medicine, in which healthcare is tailored to the molecular and clinical characteristics of each individual, is not new, its implementation in clinical practice has been heterogenous. In some medical specialties, precision medicine has gone from being just a promise to a reality that achieves better patient outcomes. This is a fact if we consider, for example, the great advances made in the genetic diagnosis and subsequent treatment of countless hereditary diseases, such as cystic fibrosis, which have improved the life expectancy of many of the affected children. In the field of oncology, the development of targeted therapies has prolonged the survival of patients with breast, lung, colorectal, melanoma, and hematological malignancies. In other disciplines, clinical milestones are perhaps less well known, but no less important. The current challenge is to expand and generalize the use of technologies that are central to precision medicine, such as massively parallel sequencing, to improve the management (prevention and treatment) of complex conditions such as cardiovascular, kidney, or autoimmune diseases. This process requires investment in specialized expertise, multidisciplinary collaboration, and the nationwide organization of genetic laboratories for diagnosis of specific diseases.

摘要

尽管精准医学的概念并不新鲜,即医疗保健是根据每个人的分子和临床特征量身定制的,但其在临床实践中的实施情况却参差不齐。在某些医学专科中,精准医学已从仅仅是一个承诺变成了现实,实现了更好的患者治疗效果。例如,如果我们考虑在无数遗传性疾病(如囊性纤维化)的基因诊断及后续治疗方面取得的巨大进展,这些进展提高了许多患病儿童的预期寿命,这就是一个事实。在肿瘤学领域,靶向治疗的发展延长了乳腺癌、肺癌、结直肠癌、黑色素瘤和血液系统恶性肿瘤患者的生存期。在其他学科中,临床里程碑可能鲜为人知,但同样重要。当前的挑战是扩大并推广精准医学核心技术(如大规模平行测序)的应用,以改善心血管疾病、肾脏疾病或自身免疫性疾病等复杂病症的管理(预防和治疗)。这一过程需要投资于专业知识、多学科协作以及在全国范围内组织用于特定疾病诊断的基因实验室。

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