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Genetic profiling for disease stratification in chronic obstructive pulmonary disease and asthma

Rathnayake, Senani N.H.a; Van den Berge, Maartenb,c; Faiz, Alena,b,c

doi: 10.1097/MCP.0000000000000568
REVIEW: PDF Only

Purpose of review In asthma and chronic obstructive pulmonary disease (COPD), the movement towards genetic profiling with a push towards ‘personalized medicine’ has been hindered by complex environment--gene interactions and lack of tools to identify clear causal genetic traits. In this review, we will discuss the need for genetic profiling in asthma and COPD, what methods are currently used in the clinics and the recent finding using new sequencing methods.

Recent findings Over the past 10–15 years, genome-wide association studies analysis of common variants has provide little in the way of new genetic profiling markers for asthma and COPD. Whole exome/genome sequencing has provided a new method to identify lowly abundant alleles, which might have a much higher impact. Although, low population numbers due to high costs has hindered early studies, recent studies have reached genome wide significance.

Summary The use of genetic profiling of COPD in the clinic is current limited to the identification of Alpha-1 antitrypsin deficiency, while being absent in asthma. Advances in sequencing technology provide new avenues to identify disease causes or therapy response altering variants that in the short-term will allow for the development of screening procedures for disease to identify patients at risk of developing asthma or COPD.

aFaculty of Science, University of Technology Sydney, Respiratory Bioinformatics and Molecular Biology, Ultimo, NSW, Australia

bDepartment of Pulmonary Diseases

cGroningen Research Institute for Asthma and COPD, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

Correspondence to Alen Faiz, PhD, Faculty of Science, Respiratory Bioinformatics and Molecular Biology, University of Technology Sydney, Thomas St, Ultimo, NSW 2007, Australia. E-mail: alen.faiz@uts.edu.au

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