Implementation of point-of-care genetic testing for head and neck paragangliomas: early experience and future directions.
| Title: | Implementation of point-of-care genetic testing for head and neck paragangliomas: early experience and future directions. |
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| Authors: | Beiriger J; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.; Bellamkonda N; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.; White MJ; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.; Liang S; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.; Espahbodi M; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.; Naumer A; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.; Patel N; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.; Buchmann LO; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.; McCrary HC; Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States. Electronic address: hilary.mccrary@hsc.utah.edu. |
| Source: | Oral oncology [Oral Oncol] 2025 Sep; Vol. 168, pp. 107600. Date of Electronic Publication: 2025 Aug 12. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Elsevier Country of Publication: England NLM ID: 9709118 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0593 (Electronic) Linking ISSN: 13688375 NLM ISO Abbreviation: Oral Oncol Subsets: MEDLINE |
| Imprint Name(s): | Publication: Amsterdam : Elsevier; Original Publication: Oxford ; New York : Pergamon, c1997- |
| MeSH Terms: | Head and Neck Neoplasms*/genetics ; Head and Neck Neoplasms*/diagnosis ; Genetic Testing*/methods ; Paraganglioma*/genetics ; Paraganglioma*/diagnosis ; Point-of-Care Testing*; Humans ; Male ; Female ; Middle Aged ; Adult ; Retrospective Studies ; Aged ; Young Adult ; Adolescent |
| Abstract: | Objective: This study evaluates the success of a point-of-care genetic testing system for patients with head and neck paragangliomas. We subsequently compare our findings with traditional referral-based testing pathways.; Methods: We conducted a retrospective cohort study of 293 patients with HNPGLs evaluated at a tertiary referral center between 2015 and 2024. We compared uptake, detection rates, and age distributions between patients tested via traditional referral and those tested via point-of-care. The point-of-care model embeds panel testing into routine otolaryngology clinic visits.; Results: Testing completion was significantly higher in the POC cohort (93 %) compared to the traditional cohort (71 %). Pathogenic germline variants were identified in 20 % of POC-tested patients. Variant-positive individuals were significantly younger than variant-negative individuals across both cohorts. Patients who declined testing were significantly older than those who completed testing. Age distributions between POC and traditional cohorts differed significantly (p = 0.0023).; Conclusions: POC genetic testing for HNPGLs increases testing rates and allows for earlier risk identification for patients with head and neck paragangliomas. Our data support institutional integration of point-of-care models into routine care.; (Copyright © 2025 The Authors. Published by Elsevier Ltd.. All rights reserved.) |
| Competing Interests: | Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. |
| Contributed Indexing: | Keywords: Clinical workflow; Genetic testing; Germline mutation; Head and neck surgery; Implementation science; Paraganglioma; SDHx |
| Entry Date(s): | Date Created: 20250813 Date Completed: 20250824 Latest Revision: 20250824 |
| Update Code: | 20260130 |
| DOI: | 10.1016/j.oraloncology.2025.107600 |
| PMID: | 40803213 |
| Database: | MEDLINE |
Journal Article