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The Genomic Basis of
Asthma

We do not know exactly what causes asthma, but scientists believe that genetic make-up combined with environmental and lifestyle factors may be at play. The Genuity Science asthma research study aims to explore this relationship between genomics, asthma, and environmental/lifestyle factors to identify patterns that will help deepen our understanding of the disease.

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Genuity Science is working to bridge the knowledge gap

It is estimated that in Ireland 470,000 people have asthma making Ireland the fourth highest prevalence for asthma in the world. Symptom severity and response to treatment vary significantly from person to person. In Ireland, asthma accounts for approximately 20,000 emergency department attendances and 5,000 hospital admissions per year1. This genomics study will develop a comprehensive research resource on asthma that may have the ability to identify differences and similarities between disease mechanism in participants with asthma or Asthma COPD Overlap (ACO). People with severe asthma or ACO are a particularly challenging asthma subsets who tend to experience more serious health impacts such as poor lung function, reduced exercise tolerance, increased exacerbation rates, hospitalisation, and increased mortality.

This study aims to research how genes, environment and lifestyle influence disease risk, disease subtype, disease progression and response to treatment. Enhancing our knowledge will accelerate the development of novel therapeutics and strategies, ultimately resulting in better treatments available to patients such as those with severe asthma and ACO.

Aims of the Genuity Science Asthma Study

  • to understand why some people develop asthma and others do not
  • to determine why some people develop non-severe asthma while others developed severe asthma uncontrolled by existing medications 
  • to identify significant lifestyle or environmental triggers among those with the disease
  • to identify genetic markers that will help with the early diagnosis of asthma, identify people at risk of more severe forms, and through our partnerships, identify new or more effective treatments for people with severe asthma.  

Genomics Medicine for Precision Health

A genetic biomarker is described as a known DNA sequence that causes disease or is associated with susceptibility to disease. Using genetic biomarkers to predict the severity of asthma for a person as well as how that person is likely to respond to treatment would tremendously improve our ability to manage the disease for that patient. Precision health is about prescribing an individual patient with the right drug, at the right dose, at the right time. This would allow for earlier intervention and the increased potential to slow progression.

Asthma Risk Factors

Complex diseases like asthma are the result of a combination of genetic and environmental risk factors. For example, familial history, premature birth, history of respiratory infections (viral and bacterial), allergies, obesity, and environmental exposures such as dust, mould, and maternal smoking3. Although asthma is a heterogeneous disorder, a strong genetic basis has been firmly established. There have been efforts to understand the role of genetics in asthma for many years such as genome-wide association studies (GWAS) which have identified several gene variants (changes) that are associated with asthma.

More recently, whole genome sequencing (WGS) has been used to identify additional variants and potential candidate genes suspected of causing asthma. More studies are needed to determine the precise role of these genes, their interactions with other genes and with the environment.
Current Asthma Treatments

Asthma is mainly managed through a combination of controller medication and reliever medication. Controller medication such as inhaled corticosteroids reduces the inflammation of the airways over time and lowers the risk of a severe attack occurring. It does not provide any instant relief of symptoms but builds up protection and reduces symptoms over a longer period. Reliever inhalers such as Beta 2 agonists can be taken as soon as asthma symptoms appear. They work quickly by opening the airways wider and making it easier to breathe again.

Most people with asthma can manage their symptoms well with the usual medicines like a preventer inhaler and a reliever inhaler. However, people with severe or therapy-resistant asthma require treatment with high dose inhaled corticosteroids plus a second controller and/or systemic corticosteroids to prevent asthma from becoming ‘‘uncontrolled’’. Add-on therapies may be required for asthma which remains ‘‘uncontrolled’’ despite the use of high dose corticosteroids2.

Asthma and Classification

Asthma is a complex respiratory disease, characterized by chronic airway inflammation. Symptom severity, frequency and response to treatment vary from person to person. Asthma is classified based on respiratory symptoms such as wheeze, shortness of breath, chest tightness and/or cough and by airflow limitation.

Genuity Science's Asthma Research Study

The Genuity Science asthma study is a population-based study, which means the data is grouped with thousands of other participants with asthma so that researchers can identify patterns that may help answer some important questions about the disease. This exploration of genetic and environmental risk factors, as well as the biological processes associated with asthma will contribute to a better overall understanding of asthma, paving the way for the development of new treatments and earlier intervention therapies for patients.

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