Integrating telomere length evaluation and genetic testing into pulmonary care can significantly change how physicians diagnose and treat pulmonary fibrosis, according to a Mayo Clinic study published on Jul. 2.
The research involved 66 patients and found that nearly one in five had a disease-causing genetic variant. Results from the combined testing approach changed clinical care in more than half of the patients. The findings were published in Mayo Clinic Proceedings.
Telomeres are protective caps at the ends of chromosomes that naturally shorten with age, but in some inherited conditions, they become unusually short. This shortening has been linked to certain forms of pulmonary fibrosis, which is a group of diseases causing progressive lung scarring and increasing difficulty breathing.
Kathryn del Valle, M.D., a Mayo Clinic pulmonologist and lead author of the study, said, "These diseases are often difficult to diagnose, and patients may be treated based on incomplete or unclear underlying causes." Researchers addressed this challenge by pairing genetic testing with telomere length measurement to uncover hidden drivers of disease and guide more precise management decisions.
Eva Carmona, M.D., Ph.D., senior author and pulmonologist at Mayo Clinic, said, "This work demonstrates a practical, scalable way to incorporate genetic and telomere assessment into clinical care for patients with fibrotic interstitial lung disease." Additional insights from these tests led to changes such as evaluation for comorbidities, medication adjustments, referrals to specialized clinics, and earlier consideration of lung transplant. The information also helps clinicians avoid treatments that may be ineffective or harmful for certain genetic or telomere-related conditions.
Carmona added, "Genetic and telomere testing may help elucidate why disease is occurring, guide management decisions and identify family members who may be at risk." Mayo Clinic plans to expand this model by launching a Familial Pulmonary Fibrosis Clinic aimed at coordinating genetic testing, counseling, and comprehensive care for both patients and their relatives.
