{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T04:17:29Z","timestamp":1784866649885,"version":"3.55.0"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T00:00:00Z","timestamp":1744675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>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\u2010 and provider\u2010level barriers to genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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%, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). Medicare insurance was associated with lower rates of testing compared to commercial insurances (32% vs. 64%, <jats:italic>p<\/jats:italic>\u2009=\u20090.006). Controlling for individual and temporal factors, head and neck paragangliomas were least likely to undergo genetic testing (OR 0.13, 95% CI: 0.05\u20130.31). Reasons for not undergoing testing included insurance denial, time constraints, and patient uncertainty. Twenty\u2010two percent (14\/68) of patients with pheochromocytoma had a positive finding (<jats:italic>FH, MSH3<\/jats:italic>, <jats:italic>MUTYH<\/jats:italic>, <jats:italic>NF1, RET, SDHD<\/jats:italic> and <jats:italic>VHL<\/jats:italic>), while 46% (19\/41) of patients with paraganglioma had a positive finding (<jats:italic>MSH6<\/jats:italic>, <jats:italic>SDHA<\/jats:italic>, <jats:italic>SDHB<\/jats:italic>, <jats:italic>SDHD<\/jats:italic>, <jats:italic>TMEM127<\/jats:italic> and <jats:italic>VHL<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Germline testing was performed in less than half of patients with PPGL, and 30% who underwent tested carried a pathogenic mutation, reinforcing the importance of genetics evaluation. Older age, Medicare coverage, and head and neck paragangliomas were associated with lower rates of genetic testing, presenting opportunities to improve education and equity in the management of patients with PPGL.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.15248","type":"journal-article","created":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T05:53:12Z","timestamp":1744782792000},"page":"147-156","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic Testing Referral Rates for Pheochromocytoma and Paraganglioma in an Academic Tertiary Centre"],"prefix":"10.1111","volume":"103","author":[{"given":"Brian","family":"Ruhle","sequence":"first","affiliation":[{"name":"Department of Surgery Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na Eun","family":"Kim","sequence":"additional","affiliation":[{"name":"Kaiser Permanente Baldwin Park California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang","family":"Ngo","sequence":"additional","affiliation":[{"name":"Section of Endocrine Surgery, UCLA David Geffen School of Medicine Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena G.","family":"Hughes","sequence":"additional","affiliation":[{"name":"Section of Endocrine Surgery, UCLA David Geffen School of Medicine Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dipti P.","family":"Sajed","sequence":"additional","affiliation":[{"name":"UCLA David Geffen School of Medicine, Division of Pathology Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Run","family":"Yu","sequence":"additional","affiliation":[{"name":"UCLA David Geffen School of Medicine, Division of Endocrinology Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James X.","family":"Wu","sequence":"additional","affiliation":[{"name":"Section of Endocrine Surgery, UCLA David Geffen School of Medicine Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael W.","family":"Yeh","sequence":"additional","affiliation":[{"name":"Section of Endocrine Surgery, UCLA David Geffen School of Medicine Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8436-392X","authenticated-orcid":false,"given":"Masha J.","family":"Livhits","sequence":"additional","affiliation":[{"name":"Section of Endocrine Surgery, UCLA David Geffen School of Medicine Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2178"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-09-1237"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-08-0574"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac014"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1202814"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12074"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12530"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-013-2942-5"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1498"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPA.0000000000001792"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac563"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2019.8898"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-02411"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jso.24961"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.313"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1200\/EDBK_390522"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12869"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(23)00038-4"},{"key":"e_1_2_8_20_1","doi-asserted-by":"crossref","unstructured":"A. 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