{"title":"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?","authors":"Ingrid Fricke-Galindo, Ramcés Falfán-Valencia","doi":"10.1080/17476348.2022.2149496","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Areas covered: </strong>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 <i>CFTR</i> 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 <i>CYP2D6</i> and <i>CYP2C19</i> variants for formoterol. In addition, there are reports of potential pharmacogenetic variants in the treatment with acetylcysteine (<i>TOLLIP</i> rs3750920) and captopril (<i>ACE</i> rs1799752). The genetic variations for warfarin also are presented in PharmGKB and CPIC for patients with pulmonary hypertension.</p><p><strong>Expert opinion: </strong>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.</p>","PeriodicalId":12103,"journal":{"name":"Expert Review of Respiratory Medicine","volume":"16 11-12","pages":"1145-1152"},"PeriodicalIF":2.9000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Current pharmacogenomic recommendations in chronic respiratory diseases: Is there a biomarker ready for clinical implementation?\",\"authors\":\"Ingrid Fricke-Galindo, Ramcés Falfán-Valencia\",\"doi\":\"10.1080/17476348.2022.2149496\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>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.</p><p><strong>Areas covered: </strong>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 <i>CFTR</i> 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 <i>CYP2D6</i> and <i>CYP2C19</i> variants for formoterol. In addition, there are reports of potential pharmacogenetic variants in the treatment with acetylcysteine (<i>TOLLIP</i> rs3750920) and captopril (<i>ACE</i> rs1799752). The genetic variations for warfarin also are presented in PharmGKB and CPIC for patients with pulmonary hypertension.</p><p><strong>Expert opinion: </strong>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.</p>\",\"PeriodicalId\":12103,\"journal\":{\"name\":\"Expert Review of Respiratory Medicine\",\"volume\":\"16 11-12\",\"pages\":\"1145-1152\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2022-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Expert Review of Respiratory Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/17476348.2022.2149496\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Expert Review of Respiratory Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/17476348.2022.2149496","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
Current pharmacogenomic recommendations in chronic respiratory diseases: Is there a biomarker ready for clinical implementation?
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.
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
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