Genetics of interstitial lung diseases: a state-of-the-art review

Advancements in genetics and genomics continue to further our understanding of their contributions to the development of interstitial lung diseases (ILDs). This state-of-the-art clinical review synthesises current knowledge of the contribution of genetics when evaluating patients suspected to have ILD. We consider highly penetrant Mendelian disorders as well as common variants conferring smaller risk that act in concert with other genetic and acquired risk factors. Additionally, gene-by-environment and pharmacogenomic interactions are discussed to highlight their impact on disease course. Lastly, the approach to genetic ILDs is reviewed from available testing to future directions.