Econometric and Geolocated Analysis of the Implementation of Molecular Testing with RET Gene Sequencing in Patients with Medullary Thyroid Carcinoma.

• Grant number: 23/12600-4
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: February 01, 2024
• End date: January 31, 2025
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Lucas Leite Cunha
• Grantee: Diego Rafael Leite
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated research grant: 21/02752-6 - Multiple Endocrine Neoplasia type 2 (MEN 2) and Medullary Thyroid Carcinoma (TCM): new issues in developmental biology, genetics, immunology, epidemiology, mechanisms of disease and clinical management, AP.TEM

Abstract

This study is linked to the ongoing Thematic Project (2021/02752-6), directly contributing to Subproject 5 of this Thematic Project. Multiple Endocrine Neoplasia type 2 (MEN2) is an autosomal dominant genetic syndrome characterized by associations of endocrine-origin tumors and classified into subtypes MEN2A and MEN2B based on clinical manifestations. The most important and predominant clinical manifestation of all MEN2 subtypes is medullary thyroid carcinoma (MTC), occurring in over 95% of individuals. MEN2 is caused by germline mutations in the RET gene, located on chromosome 10q11.2, encoding a transmembrane receptor protein with tyrosine kinase activity. The implementation of molecular testing with RET gene sequencing in MTC patients allows for early diagnosis and treatment. Given that the molecular ancestry profile of each pathogenic variant of the RET gene has been established following specific and geolocated sociodemographic, cultural, political-economic, ethical, and institutional peculiarities in distinct Brazilian healthcare territories, it is possible that the strategies for implementing molecular testing with RET gene sequencing may also take on a unique form in each part of the national territory. Therefore, there is an urgent need for an equally geolocated econometric analysis of its implementation. The main objective of this study is to critically assess the cost estimate of implementing RET gene sequencing for the diagnosis of patients and family members suspected of MTC from different regions of Brazil. This work plan is structured in chronologically organized phases for better execution of the steps, all in synergy with the other stages of the ongoing Thematic Project (2021/02752-6). A scope review will be conducted following the recommendations of the Joanna Briggs Institute Manual. A comprehensive and significant search will be conducted in the following databases: (i) Medical Literature Analysis and Retrieval System Online (MEDLINE, via PubMed), (ii) Virtual Health Library (VHL). Additionally, online reports, theses, and dissertations related to cost estimation and geolocated analysis of the implementation of molecular testing with RET gene sequencing will be analyzed. A rigorous evaluation will be carried out, based on the collected literature and obtained data, regarding the costs for implementing molecular testing with RET gene sequencing in MTC patients. Our goal is to structure a budgetary impact study of the implementation of RET gene sequencing for molecular diagnosis that informs decision-making regarding the incorporation of this technology into the Brazilian Unified Health System (SUS).