New testing approach improves pulmonary fibrosis diagnosis and treatment

A new Mayo Clinic study shows that integrating telomere length evaluation and genetic testing into pulmonary care can significantly change how physicians diagnose and treat pulmonary fibrosis - in some cases even redirecting the course of care.

Telomeres are protective caps at the ends of chromosomes - the structures that carry a person's DNA. They naturally shorten as people age, but in some inherited conditions, they become unusually short. This shortening has been linked to certain forms of pulmonary fibrosis, a group of diseases that cause progressive scarring in the lungs and make breathing increasingly difficult.

In the study of 66 patients, nearly 1 in 5 had a disease-causing genetic variant, and results from testing changed clinical care in more than half of patients. The results were published in Mayo Clinic Proceedings.

"These diseases are often difficult to diagnose, and patients may be treated based on incomplete or unclear underlying causes," says Kathryn del Valle, M.D., a Mayo Clinic pulmonologist and lead author of the study.

To address this challenge, researchers paired genetic testing with telomere length measurement. Together, these tools helped uncover hidden drivers of disease and guide more precise management decisions.

"This work demonstrates a practical, scalable way to incorporate genetic and telomere assessment into clinical care for patients with fibrotic interstitial lung disease," says Eva Carmona, M.D., Ph.D., a Mayo Clinic pulmonologist and senior author.

The additional insights from testing led to meaningful changes in care, including the evaluation of comorbidities, medication adjustments, referrals to specialized clinics and earlier consideration of lung transplant. The information can also help clinicians avoid treatments and procedures that may be ineffective - or even harmful - in patients with certain genetic or telomere-related conditions.

"Genetic and telomere testing may help elucidate why disease is occurring, guide management decisions and identify family members who may be at risk," Dr. Carmona says.

Beyond individual patients, the findings have important implications for families. Identifying a genetic cause can help flag relatives who may be at risk, allowing them to pursue earlier screening, genetic counseling and testing.

Mayo Clinic plans to expand this model and launch a Familial Pulmonary Fibrosis Clinic to further coordinate genetic testing, counseling and comprehensive care for patients and at-risk relatives.