Background: Telomere Biology Disorders (TBDs) are characterized by critically short telomeres due to pathogenic germline variants in genes involved in telomere maintenance. Historically regarded as pediatric disorders defined by the mucocutaneous triad and pediatric bone marrow failure, TBDs are now increasingly recognized across the lifespan with clinical manifestations including bone marrow failure, pulmonary fibrosis, liver disease, and cancer (both hematological malignancies and solid tumors). To support clinicians and affected families, Team Telomere published the Telomere Biology Disorders: Diagnosis and Management Guidelines, Second Edition in May 2022 and released concise one-pager educational resources in February 2024. Understanding how these resources are accessed and utilized provides insight into evolving knowledge translation, diagnostic awareness, clinical engagement, and educational needs of the TBD community.

Methods: We analyzed guideline requests from May 2022 to June 2025 and one-pager resource downloads from February 2024 to June 2025. Guidelines request forms for clinicians/researchers and patient families captured demographic and role-specific information (i.e. relationship to TBDs). For patient families, additional screening questions included age of the primary individual with a TBD and year of diagnosis. One-pager resource requests further captured areas of educational interest. Descriptive statistics summarized utilization patterns.

Results: A total of 583 guidelines were distributed in the assessed time period, including 292 to clinicians/researchers and 291 to patient families.

Among clinicians and researchers, the majority were physicians (74.4%), followed by genetic counselors (13.2%) and researchers (7.4%). Among patient family requests, the most common respondents were individuals with TBDs (57.5%) and parents (30%). Geographically, requests were most concentrated in North America and Europe, with notable representation from South America, Asia, and Australia.

The mean age of the primary individual with a TBD was 34.6 years (range <1 to 75 years), reflecting engagement across pediatric and adult populations. Reported year of diagnosis demonstrated a steady increase from 2014 to 2021, with a marked surge from 2022 to 2024, coinciding with guideline dissemination and increased awareness.

A total of 485 one-pagers were downloaded, with the most frequently accessed being the combined resource document (n=107), followed by “What is a TBD?” (n=83), “Routine Adult TBD Care” (n=40), and “Pulmonary Fibrosis” (n=38). Of note, the prominent utilization of adult-focused resources reflects the expanding understanding of adult TBD presentation and the evolving clinical landscape.

When asked about areas of educational interest, the most frequently selected topics overall were genetics, hematology/oncology, and pulmonology. In sub-analysis, clinicians and researchers prioritized genetics (23.8%), followed by hematology/oncology (14.9%) and pulmonology (9.1%). Patient families demonstrated a more balanced distribution of interests, with comparatively greater emphasis on hematology/oncology (11.5%) and pulmonary (11.1%) resources, alongside consistent interest in multisystem complications such as endocrinology, immunology, dermatology, and hepatology. This broader distribution highlights families' prioritization of resources addressing lived experience and ongoing care.

Conclusions: Utilization patterns of TBD educational resources reflect the evolving clinical landscape of these disorders. The usage and interest in adult-focused materials underscores the expanding identified adult TBD population, a trend of particular relevance to adult hematology, as hematologists frequently serve as the central point for coordinating multisystem care. Importantly, the marked rise in reported diagnoses from 2022 to 2024, coinciding with resource dissemination, shows that increased awareness and access to educational tools may contribute to earlier recognition and engagement in care. Further, this suggests a growing identification of patients presenting outside the classic pediatric phenotype who were previously underdiagnosed. These insights are foundational to future advocacy and educational strategies that continue to address gaps. Collectively, these findings demonstrate that educational resources in the TBD community not only meet immediate informational needs but also shape diagnosis, engagement, and care.

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2025
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