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

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.

KEYWORDS:

• CFTR
• clinical implementation
• formoterol
• ivacaftor
• pharmacogenomics
• TOLLIP
• umeclidinium
• warfarin

Article highlights

• For chronic respiratory diseases, the availability of guidelines and recommended pharmacogenomics biomarkers has limited the clinical practice of personalized therapy, but some information can be used to improve the therapy of individuals with these diseases.

• The drugs’ labels for arformoterol, indacaterol, and umeclidinium indicate a lack of influence of genetic variants in the pharmacokinetics of these drugs.

• The main pharmacogenomic recommendations in chronic pulmonary diseases are for the indication of ivacaftor and other drugs for cystic fibrosis.

• There are available pharmacogenomic recommendations for other drugs that can be used to treat chronic respiratory diseases, such as warfarin.

Author contributions

R.F.V. and I.F.G. contributed to the manuscript’s conception, design, and writing. Both authors contributed to manuscript revision and read and approved the submitted version.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patterns received or pending, or royalties.

Reviewer disclosures

Peer reviews on this manuscript have no relevant financial or other relationships to disclose

Additional information

Funding

This paper was not funded.