Research from the Mayo Clinic suggests genetic testing and telomere length assessment can modify — even improve — outcomes for patients with pulmonary fibrosis (PF). The paper, “Advancing Pulmonary Fibrosis Care: Integrating Genomic Insights Into Clinical Practice,” was published in Mayo Clinic Proceedings.
Telomeres, which protect the ends of chromosomes, naturally shorten with age. However, some genetic mutations can cause them to prematurely or abnormally shorten. Scientists have associated this shortening with certain types of pulmonary fibrosis.
“These diseases are often difficult to diagnose, and patients may be treated on incomplete or unclear underlying causes,” said Kathryn del Valle, MD, lead author and Mayo Clinic pulmonologist, in a news release.
In the study, researchers completed genetic testing and telomere length measurement on 66 patients with pulmonary fibrosis. Approximately one in five individuals tested positive for the disease-causing genetic modification.
This additional information proves clinically significant in initiating or redirecting successful course of treatment, researchers said. For example, results could indicate comorbidity assessment, medication adjustments or earlier evaluation of lung transplant. It could also impact clinical decision-making by avoiding therapies or procedures that might be unsuccessful or damaging in PF patients with genetic or telomere-related conditions, they said.
Pulmonary fibrosis that has an underlying genetic cause can also indicate a patient’s family may be at risk and require testing.
“This work demonstrates a practical, scalable way to incorporate genetic and telomere assessment into clinical care for patients with fibrotic interstitial lung disease,” said Eva Carmona, MD, PhD, senior author and Mayo Clinic pulmonologist.
