AI Article Synopsis
- Pheochromocytomas and paragangliomas (PPGLs) are hereditary tumors, with around 40% linked to genetic mutations, necessitating genetic testing for all patients.
- A study was conducted comparing costs of traditional sequential testing to targeted next-generation sequencing (NGS) for genetic testing in PPGL patients, finding targeted NGS to be significantly cheaper and more efficient.
- The findings show that targeted NGS costs an average of $534.7 per patient and reduces hospital visits, making it the preferred method for PPGL genetic testing over traditional approaches.
Article Abstract
Introduction: Pheochromocytomas and paragangliomas (PPGLs) are highly heritable tumours, with up to 40% of cases carrying germline variants. Current guidelines recommend genetic testing for all patients with PPGLs. Next-generation sequencing (NGS) enables accurate, fast, and inexpensive genetic testing. This study aimed to compare the costs related to PPGL genetic testing between the sequential testing using the decisional algorithm proposed in the 2014 Endocrine Society guidelines and targeted NGS gene panels.
Methods: Patients with proven PPGLs were enrolled. A gene list covering 17 susceptibility genes related to hereditary PPGLs was developed for targeted sequencing. Validation was carried out by Sanger sequencing. We simulated the diagnostic workflow to examine the anticipated costs based on each strategy for genetic testing.
Results: Twenty-nine patients were included, among whom a germline variant was identified in 34.5%. A total of 22.7% with apparently sporadic PPGL carried a variant. Five genes were involved (, = 3; , = 3; , = 2; , = 1; and , = 1). According to the diagnostic workflow, the average cost of the targeted NGS (534.7 US dollars per patient) is lower than that of the sequential testing (734.5 US dollars per patient). The targeted NGS can also reduce the number of hospital visits from 4.1 to 1 per person. The cost can be further reduced to 496.24 US dollars per person (32% reduction) if we apply a new syndromic-driven diagnostic algorithm to establish priorities for specific genetic testing for syndromic and selected cases, and targeted NGS for non-syndromic patients.
Conclusions: Targeted NGS can reduce both the cost of PPGL genetic testing and the number of hospital visits, compared with the conventional approach. Our proposed algorithm is the preferred approach due to its significant reduction of the cost of genetic testing.Key messagePheochromocytomas and paragangliomas are highly heritable neoplasms.The targeted next-generation sequencing (NGS) gene panels have proven to be fast, accurate, and inexpensive for the genetic analysis.According to this cost analysis, it is economically reasonable to use targeted NGS gene panels for genetic screening.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317928 | PMC |
| http://dx.doi.org/10.1080/07853890.2021.1956687 | DOI Listing |
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