Using genetics to identify individuals with uniagnosed chronic obstructive pulmonary disease

Health & Medicine


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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 Sympton 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 Identified Undiagnosed Chronic Obstructive Pulmonary Disease,” Researchers demonstrate that Through-Cost Genetic Samples, That Can Be Obtained from the Cheek Swab Or Blood Test H COPD IN The Community.

The Team Investigated whether a measure of genetic risk, Known as Polygenic Risk Score for Copd, Could Improve the Identification of Individuals with Copd When Compred to a Case-Finding Question 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 test the predictive utility of adding this polygenic risk score to a case-finding questionnaire based on demographics, 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 Identification of Undiagnosed Copd Cases Case .

Identifying Individuals with Undiagnosed Copd and Intervening Can Improve Outcomes, But Several Barroiers Exist to Performing The Confirmat Test – A Test for Lung Function That Measures How Much Air You Can Produce in One Forced Breath).

The Researchers demonstrate that genetics could help identified uniagnosed copd individuals dwelling in the community. With the increesing availability of genetic tests for other dissees, the results Highlight the Importance of Measuring the genetic risk of copd and that in the future it may be possible to identify individuals Using questionnaires and genetics to prioritize who gets spirometry.

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

Next, The Researchers Will Work Towards Increasing the Predictive Power and Understanding of the Components of the Risk Score. In Addition, Then Are Working Toward Developing Genetic Risk Measures That Have Improved Transportability Across Multi-Ancestry Populations.

More information:
Jingzhou Zhang et al, Polygenic Risk Score added to Conventional case Finding to Identified Undiagnosed Chronic Obstructive Pulmonary Disease, Jama (2025). DOI: 10.1001/JAMA.2024.24212

PROVIDED by Mass General Brigham


Citation: Using genetics to identify individuals with uniagnosed chronic obstructive pulmonary disease (2025, february 6) retrieved 6 february 2025 from

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