Current pharmacogenomic recommendations in chronic respiratory diseases: Is there a biomarker ready for clinical implementation?

IF 2.9 3区医学 Q2 RESPIRATORY SYSTEM Expert Review of Respiratory Medicine Pub Date : 2022-11-01 DOI:10.1080/17476348.2022.2149496

Ingrid Fricke-Galindo, Ramcés Falfán-Valencia

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引用次数: 1

Abstract

Introduction: The study of genetic variants in response to different drugs has predominated in fields of medicine such as oncology and infectious diseases. In chronic respiratory diseases, the available pharmacogenomic information is scarce but not less relevant.

Areas covered: We searched the pharmacogenomic recommendations for respiratory diseases in the Table of Pharmacogenomic Biomarkers in Drug Labeling (U.S. Food and Drug Administration), the Clinical Pharmacogenomics Implementation Consortium (CPIC), and PharmGKB. The main pharmacogenomics recommendation in this field is to assess CFTR variants for using ivacaftor and its combination. The drugs' labels for arformoterol, indacaterol, and umeclidinium indicate a lack of influence of genetic variants in the pharmacokinetics of these drugs. Further studies should evaluate the contribution of CYP2D6 and CYP2C19 variants for formoterol. In addition, there are reports of potential pharmacogenetic variants in the treatment with acetylcysteine (TOLLIP rs3750920) and captopril (ACE rs1799752). The genetic variations for warfarin also are presented in PharmGKB and CPIC for patients with pulmonary hypertension.

Expert opinion: The pharmacogenomics recommendations for lung diseases are limited. The clinical implementation of pharmacogenomics in treating respiratory diseases will contribute to the quality of life of patients with chronic respiratory diseases.

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目前慢性呼吸系统疾病的药物基因组学建议:是否有可用于临床应用的生物标志物?

基因变异对不同药物反应的研究在肿瘤和传染病等医学领域占据主导地位。在慢性呼吸道疾病中，可用的药物基因组学信息很少，但相关性并不低。涵盖领域:我们在药物标签中的药物基因组学生物标志物表(美国食品和药物管理局)、临床药物基因组学实施联盟(CPIC)和PharmGKB中检索了呼吸系统疾病的药物基因组学建议。该领域的主要药物基因组学建议是评估使用ivacaftor及其组合的CFTR变体。阿福莫特罗、吲达卡特罗和乌莫替啶的药物标签表明，这些药物的药代动力学中缺乏遗传变异的影响。进一步的研究应评估CYP2D6和CYP2C19变异对福莫特罗的贡献。此外，有报道称乙酰半胱氨酸(TOLLIP rs3750920)和卡托普利(ACE rs1799752)治疗中存在潜在的药物遗传变异。在肺动脉高压患者的PharmGKB和CPIC中也显示了华法林的遗传变异。专家意见:药物基因组学对肺部疾病的建议是有限的。药物基因组学在呼吸系统疾病治疗中的临床应用将有助于提高慢性呼吸系统疾病患者的生活质量。

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来源期刊

Expert Review of Respiratory Medicine RESPIRATORY SYSTEM-

CiteScore

6.80

自引率

2.60%

发文量

期刊介绍： Coverage will include the following key areas: - Prospects for new and emerging therapeutics - Epidemiology of disease - Preventive strategies - All aspects of COPD, from patient self-management to systemic effects of the disease and comorbidities - Improved diagnostic methods, including imaging techniques, biomarkers and physiological tests. - Advances in the treatment of respiratory infections and drug resistance issues - Occupational and environmental factors - Progress in smoking intervention and cessation methods - Disease and treatment issues for defined populations, such as children and the elderly - Respiratory intensive and critical care - Updates on the status and advances of specific disease areas, including asthma, HIV/AIDS-related disease, cystic fibrosis, COPD and sleep-disordered breathing morbidity