Genetics and Genomics

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Section on Genetics and Genomics

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Publication Spotlight


Diagnosing non-small cell lung cancer by exhaled-breath profiling using an electronic nose: a multicentre validation study

Authors: Sharina Kort, Marjolein Brusse-Keizer, Hugo Schouwink, Emanuel Citgez, Dr. Frans de Jongh, John van Putten, Ben van den Borne, Lisanne Kastelijn, Daiana Stolz, Milou Schuurbiers,, Michel van den Heuvel, Wouter H. van Geffen, Job van der Palen

Description: Much of the high morbidity associated with lung cancer is a consequence of advanced-stage disease at the time of initial diagnosis. Exhaled-breath contains a gas mixture of thousands of volatile organic compounds (VOCs) in low concentrations that reflect metabolic processes at tissue level and exhaled-breath analysis is based on shifts of this VOCs composition due to biochemical changes in different pathophysiologic processes. As such, an increasing number of studies suggest that exhaled-breath analysis of volatile organic compounds may have utility in the earlier diagnosis of lung cancer, however these studies tend to lack independent validation. In this multicentre study, a training dataset of 376 non-small cell lung cancer (NSCLC) and controls had real-time breath analysis performed using the AeonoseTM (the eNose Company, Zutphen, the Netherlands) a handheld electronic nose device featuring an array of three metal-oxide sensors, to create a prediction model. The combination of breath data and clinical parameters (sex, age, number of pack-years, smoking status, and COPD-status) demonstrated a sensitivity of 95%, specificity of 51%, a negative predictive value (NPV) of 94% with an area under the receiver operating characteristic curve (AUC) of 0.87 for the prediction of NSCLC. They then demonstrated that this model performed well in a validation population of 199 subjects with a sensitivity of 95%, specificity of 49%, NPV of 94%, and an AUC of 0.86. These promising findings provide further support for the use of non-invasive exhaled breath profiling in the earlier identification of lung cancer.


Ivana Yang

Section Chair
Ivana Yang, BS, PhD


Chair: Ivana Yang, BS, PhD
Co-Chair: Rachel Kelly, MPH, PhD

Welcome to the ATS Section on Genetics and Genomics website! Our Section welcomes all members of the ATS, regardless of Assembly affiliation, who are interested in genetics, genomics, and other “omics” technologies (proteomics, metabolomics, metagenomics, etc.) as they relate to the many diseases encompassing the fields of respiratory, critical care, and sleep medicine. Our Section has grown to over 1,000 members making us one of the largest society-based interest groups for genetic and genomic investigators focused on respiratory, critical care, and sleep medicine research. The Section on Genetics and Genomics resides within Allergy, Inflammation, and Immunology, but our current members belong to numerous ATS assemblies reflecting the diverse application of omics approaches across our membership.

Genetics and genomics are at the forefront of scientific research and medical practice into the 21st century, and the number of investigators focusing on these technologies is rapidly expanding. Although the diseases encompassed by the ATS are diverse, omics-based approaches have common, overlapping themes that are beneficial to informing research and the application of cutting-edge technologies. As outlined in our mission statement, we aim to facilitate the exchange of ideas across omics researchers while increasing the knowledge and appreciation of genomics research across the broader ATS community. Section members have impacted the exchange of ideas in ATS through the programming of scientific events including quarterly journal clubs and webinars, workshops, scientific symposia, and the annual curation of over 200 abstracts submitted for the international conference. In addition, members have led and contributed to published research statements and workshops though the ATS, ERS, and NHLBI on lung precision medicine research, high-throughput sequencing, respiratory disease-related healthcare disparities, and the management of severe asthma resulting in national and international impact.

We encourage all clinicians, scientists, post-doctoral fellows, and trainees interested in genetics and genomics research to learn more about our Section. We hope to increase the understanding of omics technologies and their applications to enhance the ability of our scientific community to address impactful research questions which could lead to precision approaches for patient care.

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