Session 4: Pulmonary & Lung Transplantation
Overview
At Team Telomere’s 2026 Scientific Summit, this session tackled one of the most common ways Telomere Biology Disorders (TBD) show up in adulthood: pulmonary fibrosis, a scarring of lung tissue that makes it progressively harder to breathe over time. Session chair Dr. Chad Newton of UT Southwestern opened by posing four questions that ran through every talk that followed: when does pulmonary fibrosis stop being one person’s diagnosis and become a family diagnosis? Should telomere biology reshape how clinicians think about pulmonary fibrosis more broadly, not only in patients already suspected of having TBDs? How do we balance the excitement of genetic discovery with information we can actually act on, and how do we balance this with the uncertainty that comes when a test does not give a clear answer? And what kind of infrastructure, meaning clinics, labs, and genetic counselors, is needed to deliver this kind of care responsibly?
The speakers agreed on the same core finding: telomere-related lung disease is more common, and more often missed, than the field has assumed. Patients are frequently diagnosed with “idiopathic” pulmonary fibrosis, meaning no cause was ever identified, simply because TBDs were never part of the workup. The session traced this thread from population-level genetic research, through one health system’s six year experience incorporating telomere testing into routine care, to the very practical questions of who should be tested, when, and what to do with the results. These questions are especially important as genetic testing becomes tied to decisions about lung transplantation. Woven throughout this session was David Phillips’s own moving story, which is a reminder of why getting this right, for patients and for their families, matters so much.
Highlights from Each Talk
Influence of a Familial Pulmonary Fibrosis Service on the Personalised Clinical Management of Probands and At-risk First-degree Relatives, by Dr. Pilar Rivera-Ortega, University of Exeter
Dr. Rivera-Ortega described a dedicated familial pulmonary fibrosis clinic in Exeter, England, where patients (called “probands” when they are the first family member diagnosed) qualify for genetic testing if they are diagnosed with lung disease before age 50, have a family history of lung disease, or are being considered for transplant. In its first year, the clinic saw 93 patients with 255 first-degree relatives who are now considered at-risk, but only 20% received a clear genetic result. This gap emphasizes that many cases of familial pulmonary fibrosis still cannot be explained by testing alone. Her team is now working toward a formal national screening pathway for at-risk relatives.
Population Prevalence of Germline TERC Variants and Their Association with Pulmonary Fibrosis, by Dr. Harshkumar Patel, National Institutes of Health
Dr. Patel studied TERC, a gene that helps build the telomerase enzyme that maintains teloemres, using the UK Biobank, a database of about half a million people. Rather than starting with the sickest patients, his team took a “genome first” approach, which looked for TERC variants across the general population before checking health outcomes. They found uncertain-significance TERC variants in about 1 in 710 people, which was more common than expected, and variants were significantly linked to pulmonary fibrosis but not other TBD-related conditions or to higher mortality. This early population-level finding suggests that these genetic changes may increase the risk of pulmonary fibrosis.
Applying Telomere Length Evaluation in the Diagnosis of Pulmonary Fibrosis: Six-Year Experience from a Center of Excellence for Telomere Biology Disorders, by Dr. Eva Carmona, Mayo Clinic
Dr. Carmona shared six years of real-world experience testing telomere length and genetics in pulmonary fibrosis patients at Mayo Clinic. Because TBDs haven’t traditionally been part of the standard workup, her team uncovered previously unrecognized TBDs in patients well into their 60s and 70s. Genetic testing alone identifies a cause in only about 20% of cases, so measuring telomere length directly catches more patients; RTEL1 was the most common gene involved. Even so, across nearly 76,000 patients seen at Mayo’s three sites, only 1% ever underwent telomere testing despite rising demand, which underscores how many patients are likely still being missed.
Telomere Testing in ILD (Interstitial Lung Disease): When, Why, and How?, by Dr. Erica Ferrand, UCSF Health
Dr. Ferrand, who studies how new tests reach everyday clinical use, argued telomere testing has reached an important but uncertain moment: two guidelines now exist, but neither tells clinicians when, whom, or how to test, or what to do with results. In one study of 108 patients, over a third had short telomeres, and results changed management for nearly a third of those tested. Unfortunately FlowFISH, which the gold-standard test for telomere length testing, is available at only a handful of labs and produces results that can vary between labs. Her conclusion was that the real question is no longer whether to test, but how to do it well.
Telomeres and Pulmonary Fibrosis: What Is the Future in the Clinic and Research, by Dr. Mark Hamblin, University of Kansas Medical Center
Dr. Hamblin traced a landmark 2010-2012 trial that found a standard-of-care steroid combination was actually increasing risk of death, and that this harm was later found to fall almost entirely on patients with a TBD; Dr. Hamblin still sees this pattern in his own clinic, where about one out of every four patients are affected. Because testing access remains a bottleneck, his team classifies patients by confidence level (definite, probable, possible, unlikely) to guide safer treatment while they wait on results. He also warned that clinical trials increasingly steer short telomere patients away from certain studies, which can unintentionally skew the data on whether a drug appears to work for these patients.
New Lung Guidelines | Multi-organ Transplant, by Dr. John McDyer, University of Pittsburgh
Dr. McDyer presented new ISHLT (International Society for Heart and Lung Transplantation) guidelines, which recommend that telomere length testing become part of standard lung transplant evaluation. At his center, 45% of transplant patients tested had short telomeres, which is roughly double the rate seen in general lung disease clinics, and these patients face a faster disease course, so he stressed early referral with coordinated, multidisciplinary care. He shared two contrasting outcomes; in one, a patient could not be saved despite coordinated effort, and in the other the patient was thriving nine months post-transplant. Dr. McDyer described transplant itself as a “stress test” for short telomere syndrome, on the bone marrow, liver, and skin.
Lung Transplantation: Translating Consensus Documents into Clinical Care, by Dr. Andrew Courtwright, University of Utah Health
Dr. Courtwright distilled the new ISHLT guidelines into one message: a short-telomere-related lung disease shouldn’t by itself rule out transplant, but these patients need an individualized, multidisciplinary care plan. He illustrated this with David Phillips’s case: once his short telomere syndrome and RTEL1 variant were identified, David was fast-tracked to evaluation, with hematology, hepatology, and genetic counseling weighing in within days, and the team secured him a donor organ within a week despite serious complications. Dr. Courtwright credited this treatment to infrastructure his team built in just one year, including twice-monthly case review meetings and tracking telomere length as a standard, searchable lab value.
What This Means for the Field
This session emphasized that telomere related pulmonary fibrosis is more common, and more frequently missed, than the field has historically recognized. This shows up both in population data from a half million person biobank, and in one center’s discovery that patients diagnosed with “idiopathic” disease actually had underlying TBD all along. Telomere length testing and genetic testing work best together, since neither one alone catches every affected patient or family.
At the same time, speakers were candid that testing more people is only half the work. Panelists pointed out that FlowFISH reference ranges are built on a surprisingly small number of healthy control samples, which makes borderline results genuinely hard to interpret, and that many clinicians are motivated to test but unsure when, how, or what to do with results, which is an education and data gap more than a lack of will. The debate over universal testing surfaced real tension: some urged caution, warning that testing without a clinic equipped to explain results and support relatives could do more harm than good, especially since millions of people will fall below the first percentile for telomere length by definition; others pointed to BRCA testing as a precedent, where broader genetic screening became standard once it proved cost-effective and lifesaving. One proposal that resonated: thinking of telomere length as a spectrum rather than a “syndrome,” especially for healthy at-risk relatives who deserve guidance and support, and not a disease label. New lung transplant guidelines are already pushing telomere testing toward standard practice before transplant, but closing these remaining gaps will take dedicated research funding, shared infrastructure like Dr. Rivera-Ortega’s multidisciplinary clinic model, and continued honest conversation about the language used with families who are healthy today but carrying real, measurable risk.
