July 2, 2026 · Mayo Clinic proceedings · DOI: 10.1016/j.mayocp.2026.04.014

Advancing Pulmonary Fibrosis Care: Integrating Genomic Insights Into Clinical Practice

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The authors aimed to evaluate the impact of genetic testing and telomere analysis on the diagnosis and management of patients with fibrotic interstitial lung disease. They found that integrating comprehensive genetic sequencing and telomere length assessment significantly improved diagnostic accuracy, identifying a substantial number of cases linked to telomere disorders, and influenced clinical decision-making in over half of the patients tested. This study highlights the translational value of genomic insights in enhancing pulmonary fibrosis care.

Kathryn T Del Valle, Kayla J Kolbert, Kaitlin J Sikkink, Chloe E Gill, Jennifer L Kemppainen, Allison M LeMahieu, Amarilys D Alarcon-Calderon, Kelly M Pennington, Cassie C Kennedy, Andrew H Limper, Alejandro Ferrer, Abhishek A Mangaonkar, David J Murphy Carmona, Denise A Whalen, Misbah Baqir, Diana J Kelm, Ana C Zamora, Mrinal S Patnaik, Victor E Ortega, Filippo Pinto E Vairo, Eva M Carmona

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