Access to accurate genetic diagnoses impacts the clinical management of neuroendocrine neoplasms

Julia M. Zuarth-Vázquez, Departamento de Endocrinología, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
Claudia Ramírez-Rentería, Unidad de Investigación en Enfermedades Endocrinas, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico
Víctor Rodríguez-Pérez, Dirección de Prevención y Participación Social, Centro Nacional para la Prevención y Control del VIH/SIDA (CENSIDA), Mexico City, Mexico
Laura C. Hernández-Ramírez, Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, UNAM/Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico

Background: Genetic tests are a fundamental part of the approach to patients with neuroendocrine neoplasms (NENs), but their availability and the experience with their use greatly vary among clinical centers. Objective: To analyze the knowledge and perceptions of medical professionals from Mexico and other countries regarding the role of diagnostic genetic tests in the clinical management of patients with NENs. Method: Between 2023 and 2024, physicians from Mexico and other countries completed an electronic survey based on six clinical cases regarding the use of diagnostic genetic tests in patients with NENs. Results: Eighty-two physicians from eleven countries (68% from Mexico) completed the survey. More unanswered questions were observed among participants from Mexico compared with those from other countries (3[1-6] vs. 0 [0-1.3], p = 0.0001) and among those with no access to routine genetic testing compared with the rest (3 [1-6] vs. 1 [0-4], p = 0.0041). Out of all participants, 21.6 ± 7.7% expressed a lack of knowledge regarding the impact of genetic data in clinical management. Conclusion: The inclusion of genetic data on precision medicine strategies for patients with NENs requires a wide availability of routine tests and adequate training of the healthcare staff.

Keywords: Genetic counseling. Genetic tests. Multiple endocrine neoplasia. Neuroendocrine neoplasm. Next-generation sequencing. Precision medicine.