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How to leverage genetics: The new emerging risk factor for COPD

Breaking ground on identifying COPD risk

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With a disease as complex as chronic obstructive pulmonary disease (COPD), identifying the risk of onset is incredibly difficult. While traditional risk factors, such as smoking, are primary indicators, new emerging risk factors are becoming more clear.


The findings of the recent MESA Lung Study and SPIROMICS analysis determined that genetic lung variants play a significant role in identifying COPD risk. This is pivotal information in helping transform the way we think about COPD, help implement preventative measures, diagnose it, and potentially even treat it.


The good news is—you can test for genetic lung variants through a low-dose CT scan. This will help identify any concerns in a manner that inflicts the least harm to the patient.


While these new insights are extremely valuable, the question is: how can you use them today to detect COPD risk earlier? Read on for our insider tips on how to put this information into practice and leverage it to drive health.

Tip #1

Avoid focusing solely on a patient’s lifestyle


Of course a patient’s lifestyle is a big contributor to COPD risk, but it should not be the sole focus. The data in the MESA Lung Study and SPIROMICS analysis proved that a patient’s race can play a major role.


Why? Because genetic lung variants have been shown to be more common in specific races—making them more susceptible to COPD even if they are making healthy lifestyle choices.

Different races—different lung variants to focus on


  • Existence of the accessory subsuperior segmental airway is associated with 1.64 higher odds of developing COPD


  • The odds of developing COPD between smokers and non-smokers with this variant are very similar


  • Absence of the right medial-basal airway

  • If a patient smokes and has this variant, the odds of obtaining COPD is 2.04 times higher than a patient without this variant

Tip #2

Test for genetic lung variants early


As the study suggests, host factors beyond smoking can significantly contribute to COPD risk. This is why testing patients early on for genetic lung variants is so important. Early testing helps clearly identify the presence of a genetic lung variant that raises COPD risk, before major lung function decreases. It also creates opportunities for physicians to personalize disease prevention and treatment based on a patient’s lung variant.

Don’t miss these potential contributing factors to COPD

Chronic Bronchitis

Chronic bronchitis is associated with the most popular airway branch variant, the accessory subsuperior segmental airway1

Dyspnea image

Dyspnea is related to the absence of a right medial-basal airway branch1

Half of older adults with COPD had low lung function early in their lives that was undiagnosed1

Tip #3

Test children of patients with COPD


As genetics are now being recognized as a critical risk factor, be sure to test descendants of your current patients. Even in the absence of traditional risk factors, identifying these patients’ risks earlier supports better long-term health management.

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If a genetic lung variant is identified, educate the families on ways to prevent the full progression to COPD. This can be anything from triggers to avoid, to making healthy lifestyle choices like:

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Not smoking2

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Avoiding lung irritants like dust and other allergens2

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Staying active2

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Getting an annual flu shot2

Identify risk—manage wellness


While smoking is often recognized as the greatest COPD risk factor, this study has proven that patients with other factors can also be at high risk. This knowledge can help redefine your approach to patient management. With it, you can take further measures to maintain wellness and support better outcomes from the start.


As further information is released on genetics and COPD risk, rely on COPD insider to help you operationalize it. Good luck.

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Further reading

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COPD insider

1. Smith B, Traboulsi H, Austin J, et al. Human airway branch variation and chronic obstructive pulmonary disease. PNAS Plus. 2017. 1-8. 2. Chronic Obstructive Pulmonary Disease. National Heart, Lung, and Blood Institute website. https://www.nhlbi.nih.gov/health-topics/copd. Accessed August 9, 2018.

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