Advancing Pulmonary Fibrosis Care Through Genomic Insights
Team Telomere was proud to welcome new, published research from this month’s Team Telomere Scientific Summit, a meeting that brought together researchers, clinicians, and families to advance understanding of Telomere Biology Disorders (TBDs). Among the many highlights of the Summit was a presentation by Eva M. Carmona Porquera, M.D., Ph.D., of Mayo Clinic, whose team has just published their findings in Mayo Clinic Proceedings: “Advancing Pulmonary Fibrosis Care: Integrating Genomic Insights Into Clinical Practice.”
Dr. Carmona, co-senior author on the study, shared this work directly with our community, and it offers exactly the kind of translational insight Team Telomere continues to advocate for: research that moves beyond the laboratory and into real, actionable changes in patient care.
Why This Study Matters
Pulmonary fibrosis is a diverse and often under-recognized group of lung diseases, and a meaningful subset of cases are driven by inherited genetic causes, including mutations in telomere-related genes. Yet genetic testing for pulmonary fibrosis has remained inconsistent in clinical practice, often confined to specialized genetics clinics disconnected from the pulmonologists who see these patients day to day.
To address this gap, Mayo Clinic’s Center for Individualized Medicine created a dedicated Genetic Testing and Counseling (GTAC) unit, embedding genetic counselors directly into the care pathway for patients with fibrotic interstitial lung disease. Over a four-year period, the team evaluated 66 referred patients using both multigene sequencing panels and telomere length testing, one of the most comprehensive integrated approaches reported to date.
What They Found
The results reinforce why telomere biology remains central to understanding unexplained pulmonary fibrosis. Genetic testing identified a definitive cause in nearly one in five patients, and remarkably, nine out of ten of those cases involved genes in the telomere maintenance pathway: RTEL1, TERT, TERC, and PARN. Patients with shorter telomeres in their lymphocytes were significantly more likely to receive a genetic diagnosis, further validating telomere length as a meaningful clinical signal.
But the study also highlighted the limits of any single diagnostic tool. Family history alone proved unreliable. Many patients with confirmed genetic mutations had no known family history of lung disease, while others who met strict familial criteria tested negative. Similarly, telomere length wasn’t always a clear-cut indicator; two patients with confirmed pathogenic variants had entirely normal telomere lengths. Together, these findings make a compelling case that genetic testing and telomere analysis work best as complementary tools, not substitutes for one another.
Perhaps most importantly, these genetic findings weren’t just academic. For more than half of the patients tested, results directly changed clinical management, leading to new medications, referrals to specialized TBD clinics, and in some cases, expedited evaluation for lung or liver transplant.
Connecting Back to the Summit
Dr. Carmona’s presentation of this work at the Team Telomere Scientific Summit brought this research directly to the community it serves, and it echoes a message we heard throughout the meeting: the field is moving toward broader, more routine genetic evaluation for progressive pulmonary fibrosis, not reserved only for patients who fit a classic family-history or early-onset profile, but integrated into standard care wherever this disease shows up.
Team Telomere is grateful to Dr. Carmona and her colleagues at Mayo Clinic for sharing this work with our community, and for continuing to build the kind of integrated, multidisciplinary care models that translate telomere science into real progress for patients and families.
📖 Read the full study: Mayo Clinic Proceedings, 2026
