Pharmacogenomics of chronic obstructive pulmonary disease

Abstract

Introduction: Chronic obstructive pulmonary disease (COPD) is a heterogeneous condition, which presents the opportunity for precision therapy based on genetics or other biomarkers. Areas covered: Alpha-1 antitrypsin deficiency, a genetic form of emphysema, provides an example of this precision approach to diagnosis and therapy. To date, research in COPD pharmacogenomics has been limited by small sample sizes, lack of accessible target tissue, failure to consider COPD subtypes, and different outcomes relevant for various medications. There have been several published genome-wide association studies and other omics studies in COPD pharmacogenomics; however, clinical implementation remains far away. There is a growing evidence base for precision prescription of inhaled corticosteroids in COPD, based on clinical phenotypes and blood biomarkers, but not yet based on pharmacogenomics. Expert opinion: At this time, there is insufficient evidence for clinical implementation of COPD pharmacogenomics. Additional genome-wide studies will be required to discover predictors of drug response and to identify genomic biomarkers of COPD subtypes, which could be targeted with subtype-directed therapies.

Doença pulmonar obstrutiva crônica - revisão de literatura

“…Os medicamentos que constituem a base da terapia sintomática são os broncodilatadores, sendo eles beta-2-agonistas de ação curta e beta-2-agonistas de ação prolongada (LABAs), além de antagonistas muscarínicos de ação curta e antagonistas muscarínicos de ação prolongada (LAMAs). Em caso de medicação de resgate usa-se mais os beta-2-agonistas de ação curta, já o uso dos broncodilatadores de ação prolongada corresponde Brazilian Journal of Health Review, Curitiba, v. 7, n. 2, p. 01-09, mar./apr., 2024 a um meio mais eficaz de reduzir os sintomas com um efeito adicional de prevenir exacerbações (Hersh, 2019;Sandelowsky et al, 2021).…”

“…Pode ser usado também a combinação de corticoides inalatório (CI) com um LABA ou LABA + LAMA (terapia tripla) nos pacientes que apresentaram duas ou mais exacerbações no ano anterior e uma ou mais hospitalização por exacerbação de DPOC (Ferrera;Labaki;Han, 2021) Além disso, a combinação de um corticoide inalatório com um LABA ou com uma combinação de LAMA + LABA reduz significamente as exacerbações em maior extensão do que o uso de broncodilatadores isolados. O tratamento com terapia tripla de CI + LABA + LAMA em dose fixa, nos pacientes sintomáticos com DPOC e com histórico de exacerbação, reduziu consideravelmente as taxas de exacerbações moderadas ou graves da DPOC, melhorou também a função pulmonar, reduziu os sintomas e melhorou a qualidade de vida relacionada à saúde, quando comparada com o tratamento duplo de LABA + LAMA ou CI + LABA (Hersh, 2019;Sandelowsky et al, 2021).…”

Personalized Medicine in Neuroscience: Molecular to System Approach

“…In brief, precision medicine approach aims to identify and connect the right treatment to the right patient, meanwhile minimizing the risk of adverse effects. Recent studies have identified several treatable features for different types of COPD including pulmonary, extra-pulmonary, psychological, and environmental traits (Hersh, 2019;Dennett et al, 2021). The next step is identifying and quantifying physiological features, molecular pathways and underlying mechanisms of these treatable traits through innovative modeling or detection techniques and then developing noble reliable point-of-care biomarkers to predict and/or differentiate responders from nonresponders to targeted therapies or precision medicine (Wouters et al, 2017;Cazzola et al, 2018;Sidhaye et al, 2018).…”

Quantitative evaluation of diaphragmatic motion during forced breathing in chronic obstructive pulmonary disease patients using dynamic chest radiography

“…In brief, precision medicine approach aims to identify and connect the right treatment to the right patient, meanwhile minimizing the risk of adverse effects. Recent studies have identified several treatable features for different types of COPD including pulmonary, extra-pulmonary, psychological, and environmental traits ( Hersh, 2019 ; Dennett et al, 2021 ). The next step is identifying and quantifying physiological features, molecular pathways and underlying mechanisms of these treatable traits through innovative modeling or detection techniques and then developing noble reliable point-of-care biomarkers to predict and/or differentiate responders from non-responders to targeted therapies or precision medicine ( Wouters et al, 2017 ; Cazzola et al, 2018 ; Sidhaye et al, 2018 ).…”