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

Abstract

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.