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肺部疾病与基因组学

Lung Disease and Genomics.

作者信息

Wysocki Kenneth

机构信息

Kenneth Wysocki is a Family Nurse Practitioner, Phoenix, AZ (

出版信息

AACN Adv Crit Care. 2018 Spring;29(1):74-83. doi: 10.4037/aacnacc2018378.

Abstract

Research and application of genomic medicine in lung disease during the past century has clarified our understanding and focus on specific phenotypes, helping clinicians tailor treatment for individual patients. Cystic fibrosis and lung cancer have been researched extensively; specific genotypes have been instrumental in precision medicine to treat these lung diseases. Asthma and chronic obstructive pulmonary disease are more complex and heterogeneous in their pathogenesis, genotypic profile, and phenotypic expression, making treatment more difficult with increasing disease severity. This article focuses on the evolving state of the science of precision medicine in lung cancer, chronic obstructive pulmonary disease, asthma, and cystic fibrosis. The body of knowledge in lung disease is growing related to pharmacogenomics, clinical guidelines, genome editing, and approaches to genomic health that will guide clinical treatment options, reduce risk, and promote health.

摘要

上个世纪,基因组医学在肺部疾病中的研究与应用,使我们对特定表型的理解更加清晰,并明确了关注重点,有助于临床医生为个体患者量身定制治疗方案。囊性纤维化和肺癌已得到广泛研究;特定基因型在精准治疗这些肺部疾病中发挥了重要作用。哮喘和慢性阻塞性肺疾病在发病机制、基因型特征和表型表达方面更为复杂且具有异质性,随着疾病严重程度的增加,治疗难度也更大。本文重点关注肺癌、慢性阻塞性肺疾病、哮喘和囊性纤维化精准医学的科学发展现状。与药物基因组学、临床指南、基因组编辑以及基因组健康方法相关的肺部疾病知识体系正在不断发展,这将指导临床治疗选择、降低风险并促进健康。

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