Genetics and Genomics

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Section on Genetics and Genomics

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Publication Spotlight

Author: Blanca Himes PhD, Executive Committee Member
Description: One critical challenge for conducting large-scale genomic studies in biobanks, is the correct classification of complex and heterogeneous traits such as Chronic Obstructive Pulmonary Disease (COPD). This is complicated by the fact that spirometry measures are seldom available for biobank participants. Consequently, there is concern that the misclassification of COPD patients is preventing the discovery of the genetic variants that contribute to COPD. This study compared the agreement between different COPD definitions within the context of the UK biobank and the use of these different definitions influence GWAS results. 
The results indicated poor agreement between ICD-coded, self-reported and GOLD-based COPD definitions, and considerable differences in genomic risk loci identified via GWAS with each definition. A risk locus near  HHIP was the only one shared across all three definitions, while two additional loci near  CHRNA3 and  CHRNA4 overlapped between the GOLD-based and ICD-coded COPD GWAS. As such the authors concluded that although the use of ICD codes and self-reports are convenient and efficient for phenotype classification in COPD, even large sample sizes achieved by their use may not yield association signals as strong as those of more objective criteria such as lung function measures. This may have important implications for GWAS of many complex traits within the context of large-scale biobanks.

Victor E. Ortega, MD, PhD, ATSF

Section Chair
Victor E. Ortega, MD, PhD, ATSF


Chair: Victor E. Ortega, MD, PhD, ATSF

Co-Chair: Co-Chair - Ann Chen Wu, MD, MPH

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. Over the past two years, 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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