Genetic Testing Referral Rates for Pheochromocytoma and Paraganglioma in an Academic Tertiary Centre.

ABSTRACT:

Background

Clinical guidelines recommend genetic counselling for all patients with pheochromocytoma or paraganglioma (PPGL). Barriers to accessing genetics evaluation are incompletely understood. The objective of this study was to identify individual- and provider-level barriers to genetic testing.

Methods

Retrospective study of patients with PPGL who underwent resection at a tertiary academic centre. Study outcomes included referral rates for genetic counselling and completion of germline testing.

Results

Of 224 patients who underwent resection of PPGL, 75% were referred for genetic counselling, and 49% completed testing. Genetic testing was highest after 2019. More individuals 50 years or younger underwent testing compared to over 50 (65% vs. 37%, p < 0.001). Medica

SUBMITTER: Ruhle B 

PROVIDER: S-EPMC12223699 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature