Clinical Development of Genomic Medicine in Pulmonary Diseases: Are Genetic Factors Enough to Determine the Phenotype and Inheritance of Pulmonary Diseases?

Abstract

Many pulmonary disease genotypes have been identified in genome-wide association studies using microarray technology. These genetic variants are relatively common but generally explain little about the heritability of disease, a phenomenon known as “missing heritability.” This suggests that a genomic approach alone might not be enough to determine the phenotype and heritability of pulmonary diseases. Since the airway is continuously exposed to various environmental factors, the gene–environment interaction is extremely important in the pathogenesis of pulmonary diseases. However, the mechanisms by which environmental factors contribute to the heritability and pathological development of pulmonary diseases remain unknown. Recently, it has been reported that not only the genome but also the epigenome and microbiome are involved in the determination of disease susceptibility and phenotype. Recent advances in analytical techniques have yielded enormous quantities of diverse types of individual biological information, including genomic, epigenomic, transcriptomic, proteomic, metabolomic, and microbiomic data. Using this vast array of biometric information, new pulmonary disease phenotypes will be identified and could be used to develop personalized medicines for patients with pulmonary diseases in the future. This review provides an overview of the current knowledge of the genomic medicine for better understanding of the heritability of pulmonary disease.