Researchers at the Mayo Clinic have found that integrating telomere length evaluation and genetic testing into pulmonary care can significantly change how physicians diagnose and treat pulmonary fibrosis.
Telomeres are protective caps at the ends of chromosomes, which carry a person’s DNA, and they naturally shorten as people age, but in some inherited conditions, they become unusually short, and this shortening has been linked to certain forms of pulmonary fibrosis, a group of diseases that cause progressive scarring in the lungs, making breathing increasingly difficult.
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Kathryn del Valle, M.D., a Mayo Clinic pulmonologist and lead author of the study, notes that these diseases are often difficult to diagnose, and patients may be treated based on incomplete or unclear underlying causes, which is why they paired genetic testing with telomere length measurement to uncover hidden drivers of disease and guide more precise management decisions.
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, and it may help elucidate why disease is occurring, guide management decisions, and identify family members who may be at risk, according to Eva Carmona, M.D., Ph.D., a Mayo Clinic pulmonologist and senior author.
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Beyond individual patients, the findings have important implications for families, as identifying a genetic cause can help flag relatives who may be at risk, allowing them to pursue earlier screening, genetic counseling, and testing, which is why the Mayo Clinic plans to expand this model and launch a Familial Pulmonary Fibrosis Clinic to further coordinate genetic testing, counseling, and care for patients and at-risk relatives.
The study’s results demonstrate a practical, scalable way to incorporate genetic and telomere assessment into clinical care for patients with fibrotic interstitial lung disease.
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For a complete list of authors, disclosures and funding, review the study. About Mayo ClinicMayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and to providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news. Kelley Luckstein, Mayo Clinic Communications, [email protected]
