Genetic testing paired with telomere length measurement can change how doctors diagnose and treat pulmonary fibrosis, according to a new Mayo Clinic study. The research found that nearly one in five patients carried a disease-causing variant, and results from testing changed clinical care in more than half of the 66 patients studied. The findings were published in Mayo Clinic Proceedings.
Telomeres are protective caps on chromosome ends that naturally shorten with age. In certain inherited conditions, they become unusually short — a phenomenon linked to specific forms of the disease. The condition causes progressive lung scarring, making breathing increasingly difficult.
Reaching a clear diagnosis is rarely straightforward.
Patients may go years without understanding what drives their symptoms, and treatment decisions are sometimes made without knowing the full picture. That can lead to therapies managing symptoms without addressing the root cause.
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The combined approach uses two types of assessment not typically performed together in pulmonary care. One looks for inherited mutations, while the other evaluates whether a patient’s chromosome caps are unusually short. Together, they reveal a fuller picture than either test alone.
Testing Reshaped Treatment for Most Patients
“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 paper.
Researchers enrolled patients with fibrotic interstitial lung disease, measured each person’s telomere length, and ran genetic analysis, tracking how results influenced clinical decisions over the course of care.
A meaningful share carried disease-causing variants.
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The two assessments uncovered hidden drivers — including inherited factors that routine testing may not capture — and guided more precise management. They led to evaluation of comorbidities, medication adjustments, referrals to specialized clinics, and earlier consideration of lung transplant.
In some cases, the information helped clinicians avoid treatments that might be ineffective or even harmful for patients with certain genetic or telomere-related conditions. The right treatment for one person isn’t always right for another, and genetic data can make that distinction clearer.
“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 the paper’s senior author.
Not Every Patient Needs the Same Approach
Patients with the same diagnosis may benefit from different treatment approaches depending on their genetic makeup. What works for one could be risky for another — a reality that such testing can help physicians account for before starting or adjusting therapy.
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A Ripple Effect for Families
Identifying an inherited cause can flag relatives who may be at risk, allowing them to seek genetic counseling and earlier screening. A single test result for one person can prompt preventive action across an entire family — especially if caught before significant scarring develops, when more treatment options remain available.
“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.
The team’s findings support broader adoption of these tests in pulmonary care. If the approach can be scaled, more patients could receive targeted treatment earlier in the course of their disease.
Mayo Clinic plans to expand this model by launching a Familial Pulmonary Fibrosis Clinic. The new center will coordinate testing and counseling, along with ongoing care for patients and their at-risk relatives.
