Challenges to Clinical Implementation of IPF Polygenic Risk Scores: David Zhang, MD

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Polygenic risk scores (PRS) may serve as an important biomarker for assessing idiopathic pulmonary fibrosis (IPF) risk according to a recent study using real-world electronic health record and biobank data.¹

Although the study provided valuable insights into IPF disease risk and diagnosis, there is still more research needed for PRS to be clinically implemented as a practice screening tool for IPF. There were multiple limitations in the study that could be improved, especially its generalizability, as all participant data used in the study were of those of European descent.

PRS is generally derived from a homogeneous population to help differentiate disease risk factors from ancestral differences, 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®.

“There are issues with portability that are very well understood about how well this polygenic score can work in individuals of different ancestral backgrounds,” he said.

Zhang also pointed out that PRS may be difficult to communicate to patients regarding how to understand their IPF disease risk. Whereas other diseases also use PRS to assess disease risk, the genetic counseling conversation for IPF differs significantly.

“For typical Mendelian disorders where having a mutation, whether completely or incompletely, explains that person's risk for developing disease,” he said. “Polygenic score is definitely along the spectrum.”

Overall, PRS “does not exist in a vacuum” and can be additive to other factors associated with IPF disease risk, rare mutations being the most significant, Zhang explained. The study serves as a stepping stone for researchers and clinicians alike to inform future clinical studies and practical application as new discoveries emerge within the IPF disease landscape.

“Finding a way, not only for polygenic scores but also an integrated genetic risk score, or genetic risk assessment, is going to be the ultimate goal,” he said.

Reference

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