Using genetics to identify individuals with undiagnosed chronic obstructive pulmonary disease microbiologystudy

In a recent study, Mass General Brigham researchers demonstrated that through low-cost genetic samples that can be obtained from a cheek swab or blood test, they can improve identification of people with COPD in the community.

Chronic obstructive pulmonary disease (COPD), a disease that restricts the airways and makes it progressively more challenging to breathe, results from complex genetic and environmental factors.

Many people experiencing respiratory symptoms might be living with undiagnosed COPD and missing out on the opportunity to receive treatment.

In a study, published in JAMA titled “Polygenic Risk Score Added to Conventional Case Finding to Identify Undiagnosed Chronic Obstructive Pulmonary Disease”, researchers demonstrate that through low-cost genetic samples, that can be obtained from a cheek swab or blood test, they can improve identification of people with COPD in the community.

The team investigated whether a measure of genetic risk, known as a polygenic risk score for COPD, could improve the identification of individuals with COPD when compared to a case-finding questionnaire alone.

The researchers developed a polygenic risk score for COPD based on genome-wide association studies of lung function that was associated with COPD in multiple cohorts.

They then tested the predictive utility of adding this polygenic risk score to a case-finding questionnaire based on demographics, smoking history, and symptoms in a population-based and a COPD-enriched study.

By using multiple prediction methods, including area-under-the-curve, net reclassification, precision-recall, and net benefit decision curve analyses, they found that adding the polygenic risk score to a case-finding questionnaire improved the identification of undiagnosed COPD cases.

Identifying individuals with undiagnosed COPD and intervening can improve outcomes, but several barriers exist to performing the confirmatory test—i.e. spirometry (a test for lung function that measures how much air you can produce in one forced breath).

The researchers demonstrate that genetics could help identify undiagnosed COPD individuals dwelling in the community. With the increasing availability of genetic tests for other diseases, the results highlight the importance of measuring the genetic risk of COPD and that in the future it may be possible to identify undiagnosed individuals using questionnaires and genetics to prioritize who gets spirometry.

Much of the genetic susceptibility to COPD remains unexplained, particularly in non-European-ancestry individuals.

Next, the researchers will work towards increasing the predictive power and understanding of the components of the risk score. In addition, they are working toward developing genetic risk measures that have improved transportability across multi-ancestry populations.