L. Cybulski1, C. Marin1, Z. Lewin2, L. Benavides2, J. Moalem1,4, I. Harbuz-Miller3, A. Moore1,4 1University Of Rochester, Department Of Surgery, Rochester, NY, USA 2University Of Rochester, School Of Medicine And Dentistry, Rochester, NY, USA 3University Of Rochester, Division Of Endocrinology, Rochester, NY, USA 4University Of Rochester, Division Of Endocrine Surgery, Rochester, NY, USA
Introduction: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that when secreting hormones may lead to high morbidity and mortality with progressive hypertension, cardiomyopathy, and stroke. However, 10-15% of PPGLs may be “silent” without overt clinical manifestations or significant catecholamine production, thereby allowing progressive growth and possible malignant transformation. In patients with PPGLs, 25-40% have a pathogenic gene variant (PGV), with some variants having an increased risk of disease recurrence. Genetic testing is therefore a critical component of PPGL care, even in the absence of strong family history. Various barriers exist in implementing genetic screening, including but not limited to insurance coverage, provider education, access to genetic counseling, and patient factors. In this study, we discuss our institution’s improvement in genetic testing and PPGL diagnosis through the hire of an adrenal endocrinologist and access to EMR.
Methods: We created a retrospective database of patients in Rochester, New York diagnosed with PPGL based on either tissue diagnosis or combined imaging and biochemical profile from 2006 to 2024. Data were analyzed using R software.
Results: A total of 154 patients met inclusion criteria, of which 62% received genetic testing, revealing 34% with a PGV. Younger age (55.4 vs. 65.0 years, p=0.003) and identifying as Caucasian (p=0.006) were independent predictors of receiving genetic testing, while gender and area of residency were not. An adrenal endocrinologist was hired in 2018, and genetic testing within 1-year of diagnosis increased from 34.9% to 76.0% (p = 0.02). Yearly incidence of PPGLs ranged from 0.04-0.67/100,000, with an increase after 2012 from an average of 0.06 to 0.34 per 100,000 (p<0.001).
Conclusion: Despite the Endocrine Society’s recommendation for genetic testing in patients with PPGLs, our data reveal poor compliance prior to 2018. We show younger age and Caucasian race as positive predictive factors for receiving genetic testing, with the hiring of an adrenal endocrinologist leading to a significant improvement in screening. The incidence of PPGL in Western New York also increased dramatically after 2012, at the time of EMR implementation (EPIC). This increase suggests improved diagnostic testing and guideline adherence with the addition of EMR in an academic tertiary care setting. While boundaries continue to exist, causing discrepancies in testing between demographic groups, our data suggest that a dedicated adrenal endocrinologist improves access to genetic counseling. In the future, we plan to review additional obstacles, with age and race being probable areas of interest, based on our preliminary results.