Genetic Testing Referral Rates for Pheochromocytoma and Paraganglioma in an Academic Tertiary Centre
Authors' conclusion
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.
Study context
- Population
- Patients with PPGL who underwent resection at a tertiary academic centre
- Participants
- 224 patients
- Outcome
- Referral rates for genetic counselling and completion of germline testing
Methodological detailssingle-centre, tertiary academic centre
- Single-centre
- Tertiary academic centre
Main finding
As reported in the abstract
Referred for genetic counselling
75%
Completed testing
49%
Observational data: associations, not effects.
Further findings
Genetic testing in head and neck paragangliomas
| OR (95% CI) | ||
|---|---|---|
| Head and neck paragangliomaLeast likely to undergo testing · controlling for individual and temporal factors | 0.13 (0.05–0.31) | |
| 0.050.21520Odds ratio (log scale) |
| Outcome | Values | P value |
|---|---|---|
| Testing by age≤50 years vs >50 years | ≤50 years 65% · >50 years 37% | P < 0.001 |
| Testing by insuranceMedicare vs Commercial | Medicare 32% · Commercial 64% | P = 0.006 |
| Positive germline finding | Pheochromocytoma Twenty-two percent · Paraganglioma 46% |
- Positive germline finding: Pheochromocytoma: FH, MSH3, MUTYH, NF1, RET, SDHD, VHL; paraganglioma: MSH6, SDHA, SDHB, SDHD, TMEM127, VHL
Reasons for not testing
- Insurance denial, time constraints, patient uncertainty
Original publication
Genetic Testing Referral Rates for Pheochromocytoma and Paraganglioma in an Academic Tertiary Centre. Clin Endocrinol (Oxf). Published 15 April 2025. doi:10.
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