Implementation of point-of-care genetic testing for head and neck paragangliomas: early experience and future directions

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.

Keywords: Clinical workflow; Genetic testing; Germline mutation; Head and neck surgery; Implementation science; Paraganglioma; SDHx.