Leukemia Research

Multispecialty referral patterns to a clonal hematopoiesis clinic: Who, what, and why?

Cohort study of 126 peoplePopulations
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Abstract

Clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of undetermined significance (CCUS) are increasingly recognized as risk factors for hematologic malignancy, cardiovascular disease, and inflammatory disorders. While dedicated clonal hematopoiesis (CH) clinics have emerged to address these risks, referral patterns have not been systematically described. We conducted a retrospective chart review of 126 consecutive adults referred to a CH clinic within a large academic health system from 2021 and 2023. Referral sources, diagnostic reasoning, and outcomes were examined, incorporating molecular, cytogenomic, and bone marrow findings. Primary care providers accounted for the largest proportion of referrals (31.7%), followed by Hematologists (23.8%) and Genetic Counselors (17.5%). Fifteen patients were diagnosed with CHIP and fifteen with CCUS. Among referrals for cytopenias, two-thirds carried pathogenic variants detected by targeted sequencing, often leading to diagnostic reclassification. Case vignettes illustrate referrals from oncology, gastroenterology, and primary care, demonstrating diverse settings in which CHIP and CCUS are encountered. To our knowledge, this is the first systematic analysis of referral patterns to a CH clinic within a multispecialty network. These findings underscore the importance of multidisciplinary engagement in early detection, supports integrating molecular testing in hematologic evaluation, and provides a framework for standardized referral strategies and future clinical trial enrollment.