A new Mayo Clinic study suggests that integrating genetic testing and telomere length evaluation into pulmonary care can provide important insights for patients with pulmonary fibrosis, a group of diseases marked by progressive lung scarring and worsening breathing difficulty.
Published in Mayo Clinic Proceedings, the study evaluated 66 patients with fibrotic interstitial lung disease and found that nearly 1 in 5 patients had a disease-causing genetic variant. Testing results changed clinical care in more than half of the patients evaluated.
Genetic testing informs clinical decisions
Telomeres are protective caps at the ends of chromosomes, the structures that carry a person’s DNA. While telomeres naturally shorten with age, unusually short telomeres can occur in certain inherited conditions and have been linked to some forms of pulmonary fibrosis.
Researchers combined genetic testing with telomere length measurement to identify underlying contributors to disease and provide additional information for patient management.
"These diseases are often difficult to diagnose, and patients may be treated based on incomplete or unclear underlying causes," Kathryn del Valle, MD, a Mayo Clinic pulmonologist and lead author of the study, said in a press release.
The additional information from testing influenced several aspects of care, including evaluation of comorbidities, medication adjustments, referrals to specialized clinics, and earlier consideration of lung transplant.
The findings also suggest that genetic and telomere testing may help clinicians avoid treatments and procedures that may be ineffective or potentially harmful for patients with certain genetic or telomere-related conditions.
"This work demonstrates a practical, scalable way to incorporate genetic and telomere assessment into clinical care for patients with fibrotic interstitial lung disease," Eva Carmona, MD, PhD, a Mayo Clinic pulmonologist and senior author, said in a press release.
Beyond individual patient care, identifying genetic causes may help clinicians recognize family members who could be at risk and support earlier screening, genetic counseling, and testing.
"Genetic and telomere testing may help elucidate why disease is occurring, guide management decisions and identify family members who may be at risk," Carmona said.
Mayo Clinic plans to expand this approach with the launch of a Familial Pulmonary Fibrosis Clinic to coordinate genetic testing, counseling, and comprehensive care for patients and relatives who may be at risk.
Note: This news summary was generated by AI based on a published press release, followed by a review from human editors.
