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Implementation of point-of-care genetic testing for head and neck paragangliomas: early experience and future
Jacob Beiriger1, Nikhil Bellamkonda1, Michelle J White1
1Department of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, UT, United States.
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.
