A step forward into respiratory genetics: overview contribution of genetics in respiratory diseases

Background: In developing countries, especially in Southeast Asia, there is a misconception that genetics is only relevant to dysmorphology and prenatal obstetrics. Respiratory diseases, which are the most prevalent, range from simple Mendelian (single gene) diseases to complex (polygenic) disorders, surely have genetic determinants. Now, even in this “post-genomic era” many clinicians are not aware of advances in genetics available for prevention, diagnosis, and therapy of respiratory diseases.

Objective: The aim of this study is not to serve as a comprehensive review of genetics or genomics but to highlight genetic information relevant to clinical practice. Here, we describe genetic information pertaining to some of the most frequently encountered respiratory diseases.

Methods: The present review was prepared by reviewing the current literature using PubMed and Web of Science searches.

Results: Knowledge of the basic principles and genetic terms is important in clinical practice. Based on that knowledge, we can now recognize much progress in the respiratory field. The single gene and complex diseases have been identified. Translating genetic information into prevention, diagnosis, or therapy of such diseases can have great potential benefit for patients.

Conclusion: Genomics and molecular genetics could be integrated in the clinical setting. Ultimately, genomic knowledge and approaches will become increasingly important in the clinical setting for many respiratory diseases.