Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma
AbstractIntroduction 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 genet...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2021-01-01
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| Series: | Annals of Medicine |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/07853890.2021.1956687 |
| _version_ | 1827579206816497664 |
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| author | Weenita Pipitprapat Oraluck Pattanaprateep Nareenart Iemwimangsa Insee Sensorn Bhakbhoom Panthan Poramate Jiaranai Wasun Chantratita Kinnaree Sorapipatcharoen Preamrudee Poomthavorn Pat Mahachoklertwattana Thanyachai Sura Atchara Tunteeratum Kanoknan Srichan Chutintorn Sriphrapradang |
| author_facet | Weenita Pipitprapat Oraluck Pattanaprateep Nareenart Iemwimangsa Insee Sensorn Bhakbhoom Panthan Poramate Jiaranai Wasun Chantratita Kinnaree Sorapipatcharoen Preamrudee Poomthavorn Pat Mahachoklertwattana Thanyachai Sura Atchara Tunteeratum Kanoknan Srichan Chutintorn Sriphrapradang |
| author_sort | Weenita Pipitprapat |
| collection | DOAJ |
| description | AbstractIntroduction 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 (RET, n = 3; SDHB, n = 3; SDHD, n = 2; EGLN1, n = 1; and NF1, n = 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. |
| first_indexed | 2024-03-08T21:58:23Z |
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| issn | 0785-3890 1365-2060 |
| language | English |
| last_indexed | 2024-03-08T21:58:23Z |
| publishDate | 2021-01-01 |
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| series | Annals of Medicine |
| spelling | doaj.art-c86466637b7a4d32898cf10bf9c6359f2023-12-19T16:46:26ZengTaylor & Francis GroupAnnals of Medicine0785-38901365-20602021-01-015311244125610.1080/07853890.2021.1956687Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paragangliomaWeenita Pipitprapat0Oraluck Pattanaprateep1Nareenart Iemwimangsa2Insee Sensorn3Bhakbhoom Panthan4Poramate Jiaranai5Wasun Chantratita6Kinnaree Sorapipatcharoen7Preamrudee Poomthavorn8Pat Mahachoklertwattana9Thanyachai Sura10Atchara Tunteeratum11Kanoknan Srichan12Chutintorn Sriphrapradang13Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Clinical Epidemiology and Biostatistics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandCenter for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandCenter for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandCenter for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandCenter for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandCenter for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandAbstractIntroduction 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 (RET, n = 3; SDHB, n = 3; SDHD, n = 2; EGLN1, n = 1; and NF1, n = 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.https://www.tandfonline.com/doi/10.1080/07853890.2021.1956687Cost analysiseconomic decision analysishealth economicsneuroendocrine tumoursnext-generation sequencingsequence analysis |
| spellingShingle | Weenita Pipitprapat Oraluck Pattanaprateep Nareenart Iemwimangsa Insee Sensorn Bhakbhoom Panthan Poramate Jiaranai Wasun Chantratita Kinnaree Sorapipatcharoen Preamrudee Poomthavorn Pat Mahachoklertwattana Thanyachai Sura Atchara Tunteeratum Kanoknan Srichan Chutintorn Sriphrapradang Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma Annals of Medicine Cost analysis economic decision analysis health economics neuroendocrine tumours next-generation sequencing sequence analysis |
| title | Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma |
| title_full | Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma |
| title_fullStr | Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma |
| title_full_unstemmed | Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma |
| title_short | Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma |
| title_sort | cost minimization analysis of sequential genetic testing versus targeted next generation sequencing gene panels in patients with pheochromocytoma and paraganglioma |
| topic | Cost analysis economic decision analysis health economics neuroendocrine tumours next-generation sequencing sequence analysis |
| url | https://www.tandfonline.com/doi/10.1080/07853890.2021.1956687 |
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