Development of a Simulated Pediatric Case Script to Expand Genetic Counseling Awareness in Latin America

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Authors

Grynspan, Annette
Faget, Katerina

Issue Date

2025-05-01

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thesis_closed

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Genetic Counseling , Latin America , Simulated Patient Education , Pediatric Genetics , Interdisciplinary Collaboration , Culturally Responsive Healthcare , Medical Genetics

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Human Genetics Theses

Abstract

Despite growing global recognition of genetic counseling, the profession remains underdeveloped in Latin America due to systemic barriers, limited training infrastructure, and a lack of culturally and linguistically appropriate educational resources. This project addressed these gaps by developing a Spanish-language simulated case script designed to introduce the role and value of genetic counselors to medical students and educators in the region. Using a structured, iterative process informed by literature review, expert consultation, and best practices in simulated patient (SP) education, we created a culturally adapted script based on a fictional pediatric case of Spinal Muscular Atrophy (SMA) Type II. The script emphasizes the complementary roles of genetic counselors and medical geneticists in diagnosis, communication, psychosocial support, and interdisciplinary collaboration, with a focus on cultural humility, health literacy, and patient-centered communication. The resulting educational tool models a results disclosure session and core competencies of genetic counseling in a culturally relevant context, incorporating regional healthcare realities, ethical and legal considerations, and common barriers to care. It outlines collaborative workflows between providers and illustrates how genetic counselors support informed decision-making, address emotional responses, and connect families to resources. This script marks a foundational step toward increasing awareness of the genetic counseling profession in Latin America and offers a replicable framework for video-based simulations that can strengthen interdisciplinary training, support the integration of genetic services and improve outcomes for families affected by genetic conditions.

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