Pharmacogenetics and Theratyping in Pulmonology: A Practical Guide
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Background: Pulmonary diseases are a leading cause of global morbidity and mortality. Heterogeneity in drug response significantly limits treatment success. Pharmacogenetics and genetic testing provides opportunities to personalize therapy based on genetic variants influencing diagnosis, pharmacokinetics and pharmacodynamics. Objective: To review recent advances in genetic testing and pharmacogenetics in asthma, chronic obstructive pulmonary disease (COPD), cystic fibrosis (CF), pulmonary arterial hypertension (PAH), and alpha-1 antitrypsin deficiency (AATD), with emphasis on practical diagnostics for pulmonologists. Methods: Analysis of recent literature, integrating recommendations from the Clinical Pharmacogenetics Implementation Consortium (CPIC), the Dutch Pharmacogenetics Working Group (DPWG), and the American College of Medical Genetics and Genomics (ACMG/AMP). Results: Variants in ADRB2, CRHR1, CYP3A5, ALOX5, LTC4S, CFTR, SERPINA1, BMPR2, and CYP2C9 influence treatment response and drug safety. Diagnostic strategies include targeted genotyping, next-generation sequencing (NGS) panels, whole exome or genome sequencing (WES/WGS), and functional theratyping. Conclusion: Pharmacogenetics is established in CF and AATD, emerging in asthma, COPD, and PAH. For pulmonologists, integrating genetic testing into clinical practice requires awareness of available diagnostic methods, clear guidelines, and structured clinical decision support.