Jesus Daniel Gutierrez Arratia, MD
JESUS GUTIERREZ ARRATIA
Nominated From: University of Washington
Research Site: Instituto Nacional de Ciencias Neurologicas
Research Area: Neurogenetics
Primary Mentor: Marie Y. Davis, MD, PhD
Research Project
Assessing knowledge and neurological clinical practices on genetic testing and counseling in resource-limited settings: A Mixed-methods Study in Peru
Advances in genetic testing are transforming neurology worldwide, yet in resource-limited settings physician training in test interpretation and counseling remains scarce. This gap risks misinterpretation, inadequate counseling, and health inequities. This study aims to assess physicians’ knowledge, clinical practices, and experiences with genetic testing and counseling in neurology in Peru. We will use a convergent mixed-methods design combining a national cross-sectional survey of neurologists, neuropediatricians, and residents with focus groups in sentinel regions. The survey will measure knowledge, practices, and confidence using validated instruments, while qualitative interviews will explore experiences and barriers. Findings are expected to identify critical gaps, inform training and curriculum reforms, and provide a model for strengthening neurogenetics capacity in Peru and other resource-limited settings.
Research Significance
This project directly addresses a global health challenge: the rapid expansion of genetic testing in settings where professional training in genetics and counseling remains limited. In Peru, as with many LMICs, any physician can order and report genetic tests, yet there is no standardized preparation in neurogenetics during medical school or residency. Such gaps may lead to psychological distress for patients and families, and in some cases to irreversible decisions, including those related to family planning. By systematically assessing physicians’ knowledge, practices, and experiences, this study will generate evidence that is urgently needed to propose interventions and policies both at a government level ministry of health) and within academic institutions to guide curriculum reform. This project addresses a global health challenge: the rapid expansion of genetic testing without adequate physician training. In resource-limited settings, this gap risks misinterpretation, psychological harm, and inadequate counseling. By evaluating physicians’ knowledge, practices, and experiences, the study will generate evidence to guide training, curriculum reform, and policy. Its relevance extends beyond Peru, providing a model for countries facing similar challenges and contributing to global health equity. Ultimately, it underscores the urgent need to bridge the gap between genetic advances and physicians’ preparedness, in alignment with the Fogarty mission.
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