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Front. Med. | doi: 10.3389/fmed.2018.00116

Clinical Genetics in Interstitial Lung Disease

  • 1Department of Medicine; Division of Pulmonary and Critical Care Medicine, University of Texas Southwestern Medical Center, United States
  • 2Eugene McDermott Centre for Human Growth and Development, University of Texas Southwestern Medical Center, United States
  • 3National Heart and Lung Institute, Imperial College London, United Kingdom
  • 4National Institute for Health Research Respiratory Biomedical Research Unit, Royal Brompton Hospital, United Kingdom
  • 5Department of Internal Medicine; Division of Pulmonary Critical Care and Sleep Medicine, University of California, Davis, United States

Interstitial lung disease (ILD) comprises a heterogeneous group of diffuse parenchymal lung processes with overlapping clinical, radiographic and histopathologic features. Among the most common and deadly ILDs are idiopathic pulmonary fibrosis (IPF) and chronic hypersensitivity pneumonitis (CHP). As the name implies, the cause of IPF remains elusive, but a variety of genetic and infectious risk factors have been identified. CHP results from chronic inhalation of an organic antigen, usually of avian or mold origin, and may occur in patients with a genetic predisposition. While IPF is treated with anti-fibrotic compounds, CHP is generally treated by suppression of the immune system and elimination of the causative antigen.

Despite advances in our understanding of IPF and CHP, there exists substantial variability in the diagnosis and treatment of these disease processes. Furthermore, IPF and CHP natural history and treatment response remain far from uniform, leaving it unclear which patients derive the most benefit from disease-specific therapy. While clinical prediction models have improved our understanding of outcome risk in patients with various forms of ILD, recent advances in genomic technology provides a valuable opportunity to begin understanding the basis for outcome variability. Such advances will ultimately allow for the incorporation of genomic markers into risk stratification and clinical decision-making.

In this piece, we highlight recent advances in our understanding of the genomic factors that influence susceptibility and outcome risk among patients with IPF and CHP. Genomic modalities used to identify these genomic markers include genome-wide association studies, analyses of gene expression, drug-gene interaction testing, telomere length determination, telomerase mutation analysis and studies of the lung microbiome. We then identify gaps in knowledge that should be addressed to help facilitate the incorporation of these genomic technologies into ILD clinical practice.

Keywords: Idiopathic Pulmonary Fibrosis, Interstitial Lung Disease, Hypersensitivity pneumonitis, Genomics and genetics, microbiome

Received: 12 Feb 2018; Accepted: 06 Apr 2018.

Edited by:

Martin Petrek, Palacký University, Olomouc, Czechia

Reviewed by:

Markus Hilty, Universität Bern, Switzerland
Vasilios Tzilas, Sotiria General Hospital, Greece  

Copyright: © 2018 Newton, Molyneaux and Oldham. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Justin M. Oldham, University of California, Davis, Department of Internal Medicine; Division of Pulmonary Critical Care and Sleep Medicine, Davis, CA, United States,