Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non-randomized controlled trial

Abstract

Introduction: This study involved evaluating a tailored genetic counseling and testing (GCT) protocol for families at risk of autosomal dominant Alzheimer's disease (ADAD) in Latin America (LatAm), focusing on essential cultural and regional adaptations.

Methods: We conducted a non-randomized controlled trial among ADAD families in Colombia and Argentina. Participants were categorized based on their decision to learn their genetic status (GS), with further comparisons between mutation-positive versus mutation-negative participants who learned their status. Psychological impacts were measured using validated scales for anxiety and depression.

Results: Of the 122 eligible participants, 97 completed the GCT protocol, and 87 opted to learn their GS. There were no clinically significant differences in psychological distress between those who learned their status and those who did not, nor between mutation-positive and mutation-negative individuals.

Discussion: The GCT protocol effectively managed psychological impacts in ADAD families and was positively received, demonstrating the importance of culturally adapted GCT protocols.

Highlights: We examined the adaptation and efficacy of a GCT protocol in LatAm for families at risk of ADAD.The GCT protocol mitigated psychological distress among at-risk ADAD families.The study confirms the protocol's cultural appropriateness and psychological safety.Future studies should explore the long-term psychological and public health impacts of GCT and use of GCT for treatment options.