Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades
Objective A large proportion of head and neck paragangliomas (HNPGLs) arise in patients with a genetic predisposition due to pathogenic variants in succinate dehydrogenase ( SDHx ) genes. Contemporary practice guidelines recommend consideration of referral for genetic testing for all patients with H...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-03-01
|
| Series: | OTO Open |
| Online Access: | https://doi.org/10.1177/2473974X21995453 |
| _version_ | 1827802667320082432 |
|---|---|
| author | Joshua D. Smith MD Emily L. Bellile MS Tobias Else MD Gregory Basura MD, PhD |
| author_facet | Joshua D. Smith MD Emily L. Bellile MS Tobias Else MD Gregory Basura MD, PhD |
| author_sort | Joshua D. Smith MD |
| collection | DOAJ |
| description | Objective A large proportion of head and neck paragangliomas (HNPGLs) arise in patients with a genetic predisposition due to pathogenic variants in succinate dehydrogenase ( SDHx ) genes. Contemporary practice guidelines recommend consideration of referral for genetic testing for all patients with HNPGLs. We sought to assess adherence to these recommendations, factors associated with referral, and temporal trends in referral patterns by otolaryngologists over the past 2 decades. Study Design Retrospective cohort study. Setting Single tertiary care center. Methods All patients with newly diagnosed HNPGLs treated at a single academic center between 2000 and 2019 were included. Bivariable association of specific features of referral for genetic testing by treating surgeons were tested with χ 2 and Wilcoxon rank-sum tests. Logistic regression was used to assess temporal trends in referral patterns overall and for specific clinical subgroups over time. Results Of 221 patients included, only 77 (34.8%) were referred for genetic testing. Factors associated with referral included young age, family history of paraganglioma, more recent year of diagnosis (ie, closer to study end date), tumor subsite (all P < .0001), and treatment by an otolaryngologist (vs vascular surgeon or neurosurgeon, P = .009). Overall, referral rates increased over time ( P = .0002), but even in the most recent 5 years, only 51% of newly diagnosed patients were referred. Conclusion Our analysis suggests that referral rates for genetic testing in patients with HNPGLs are growing yet are still largely based on young age, family history, and tumor subsite. |
| first_indexed | 2024-03-11T20:43:20Z |
| format | Article |
| id | doaj.art-53582a5091e44f6cb192274ea4ef67ba |
| institution | Directory Open Access Journal |
| issn | 2473-974X |
| language | English |
| last_indexed | 2024-03-11T20:43:20Z |
| publishDate | 2021-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | OTO Open |
| spelling | doaj.art-53582a5091e44f6cb192274ea4ef67ba2023-10-02T00:23:53ZengWileyOTO Open2473-974X2021-03-01510.1177/2473974X21995453Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 DecadesJoshua D. Smith MD0Emily L. Bellile MS1Tobias Else MD2Gregory Basura MD, PhD3Department of Otolaryngology–Head & Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan, USACenter for Cancer Biostatistics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USADepartment of Internal Medicine, Division of Metabolism, Endocrine, and Diabetes, University of Michigan Medical School, Ann Arbor, Michigan, USADepartment of Otolaryngology–Head & Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan, USAObjective A large proportion of head and neck paragangliomas (HNPGLs) arise in patients with a genetic predisposition due to pathogenic variants in succinate dehydrogenase ( SDHx ) genes. Contemporary practice guidelines recommend consideration of referral for genetic testing for all patients with HNPGLs. We sought to assess adherence to these recommendations, factors associated with referral, and temporal trends in referral patterns by otolaryngologists over the past 2 decades. Study Design Retrospective cohort study. Setting Single tertiary care center. Methods All patients with newly diagnosed HNPGLs treated at a single academic center between 2000 and 2019 were included. Bivariable association of specific features of referral for genetic testing by treating surgeons were tested with χ 2 and Wilcoxon rank-sum tests. Logistic regression was used to assess temporal trends in referral patterns overall and for specific clinical subgroups over time. Results Of 221 patients included, only 77 (34.8%) were referred for genetic testing. Factors associated with referral included young age, family history of paraganglioma, more recent year of diagnosis (ie, closer to study end date), tumor subsite (all P < .0001), and treatment by an otolaryngologist (vs vascular surgeon or neurosurgeon, P = .009). Overall, referral rates increased over time ( P = .0002), but even in the most recent 5 years, only 51% of newly diagnosed patients were referred. Conclusion Our analysis suggests that referral rates for genetic testing in patients with HNPGLs are growing yet are still largely based on young age, family history, and tumor subsite.https://doi.org/10.1177/2473974X21995453 |
| spellingShingle | Joshua D. Smith MD Emily L. Bellile MS Tobias Else MD Gregory Basura MD, PhD Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades OTO Open |
| title | Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades |
| title_full | Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades |
| title_fullStr | Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades |
| title_full_unstemmed | Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades |
| title_short | Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades |
| title_sort | head and neck paragangliomas patterns of otolaryngology referrals for genetic testing over 2 decades |
| url | https://doi.org/10.1177/2473974X21995453 |
| work_keys_str_mv | AT joshuadsmithmd headandneckparagangliomaspatternsofotolaryngologyreferralsforgenetictestingover2decades AT emilylbellilems headandneckparagangliomaspatternsofotolaryngologyreferralsforgenetictestingover2decades AT tobiaselsemd headandneckparagangliomaspatternsofotolaryngologyreferralsforgenetictestingover2decades AT gregorybasuramdphd headandneckparagangliomaspatternsofotolaryngologyreferralsforgenetictestingover2decades |