Real-World PRS Data Advance IPF Risk Prediction, Diagnosis: David Zhang, MD

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Higher polygenic risk scores (PRS) were associated with an increased risk of idiopathic pulmonary fibrosis (IPF) using real-world electronic health record (EHR) and biobank data.¹

The study was the first of its kind to use real-world EHR and biobank data to assess PRS as a tool to identify patients’ risk of IPF and disease severity. Previous studies solely relied on carefully curated research cohorts, but this new dataset provides real-world insights into IPF diagnosis, putting researchers and clinicians closer to developing concrete screening tools to accurately identify IPF risk in patients.

Clinicians in the field frequently debate the definition of a typical IPF diagnosis and its overlapping symptoms with other conditions, David Zhang, MD, a pulmonary disease medicine specialist at Columbia University Irving Medical Center, said in an interview with The American Journal of Managed Care^®. When compared with other clinical studies using large EHR and biobank data sets, researchers are able to replicate genetic risk factors observed in IPF diagnoses.

“But the effect size of those same risk factors is diminished,” Zhang said. “Which means that there's something different about these biobank cohorts, which is certainly possible. But the other possibility…is that the precision of the phenotype is not perfect.”

Using such large data sets has allowed clinicians and researchers to delve into the differences in how PRS defines an IPF diagnosis when compared with IPF diagnoses in real-world data. Although more research is still needed in the field to fully confirm the capabilities of PRS as a tool for assessing IPF risk, this study design can be used to shape future clinical studies and provide insights into clinical practice.

“I think that's probably one of the biggest sorts of lessons that I took away from this paper, which is that this is certainly an area that we have to address before this becomes implemented in a bigger way,” he said.

References

1. McCrear S. Polygenic risk score may improve idiopathic pulmonary fibrosis risk prediction. AJMC^®. July 8, 2026. Accessed July 21, 2026. https://www.ajmc.com/view/polygenic-risk-score-may-improve-idiopathic-pulmonary-fibrosis-risk-prediction