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DOI 10.1002/alz.71502

Медицинская библиотека · Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026

Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America.

Jiménez Daniel A, Bagnati Pablo M, Flores-Montes Rosa Elena, Fernández María Laura, Zuno-Reyes Angélica, Aguillon David, Alaez-Verson Carmen, Becerra-Solano Luis E, Behrens María Isabel, Branda Kelly, Chrem Patricio, Custodio Nilton, Ducaine Whitney, Dumois-Petersen Sofia, Figuera Luis, Castaño Marisol Londoño, Longoria Erika Mariana, Matute Esmeralda, Sánchez Victor, Slachevsky Andrea, Sosa Ana Luisa, Surace Ezequiel, Takada Leonel, Yaeger Lauren, Ziegemeier Ellen, Guerra Jorge J Llibre, Programa de asesoramiento genético en América Latina (PRAGA)

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Аннотация

Autosomal dominant Alzheimer's disease (ADAD) represents a small but impactful subset of Alzheimer's cases. Asymptomatic individuals at genetic risk face substantial personal and family implications when considering predictive testing for known familial variants. Genetic counseling and testing (GCT) frameworks remain limited in Latin America (LatAm). Recommendations for GCT in LatAm were developed through an iterative, multidisciplinary consensus process. Evidence inputs included a structured literature review, site-level recommendations from participating LatAm centers, and a qualitative synthesis of focus groups with experienced investigators. The resulting model includes pre-test evaluation, sample collection, result disclosure, and structured follow-up. Core elements comprise mental health assessment, psychoeducation, exploration of expectations and decision-making needs, guided disclosure with emotional support, and a suggested 3-month post-disclosure reassessment using validated psychological measures. Our framework provides structured guidance for the safe and ethical delivery of GCT for ADAD through a multidisciplinary, culturally informed, and patient-centered approach in LatAm.

Для цитирования: Jiménez Daniel A, Bagnati Pablo M, Flores-Montes Rosa Elena, Fernández María Laura, Zuno-Reyes Angélica, Aguillon David, Alaez-Verson Carmen, Becerra-Solano Luis E, Behrens María Isabel, Branda Kelly, Chrem Patricio, Custodio Nilton, Ducaine Whitney, Dumois-Petersen Sofia, Figuera Luis, Castaño Marisol Londoño, Longoria Erika Mariana, Matute Esmeralda, Sánchez Victor, Slachevsky Andrea, Sosa Ana Luisa, Surace Ezequiel, Takada Leonel, Yaeger Lauren, Ziegemeier Ellen, Guerra Jorge J Llibre, Programa de asesoramiento genético en América Latina (PRAGA). Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America.. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2026. DOI: 10.1002/alz.71502.

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