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This study evaluates a tailored genetic counseling and testing (GTC) protocol for families at risk of Autosomal Dominant Alzheimer ´s Disease (ADAD) in Latin America, focusing on the essential cultural and regional adaptations. Several factors may influence the decision of whether family members decide to learn genetic status. Although the main drivers influencing the decisions to seek genetic testing have been widely studied in High-Income Counties (HIC), these questions remain relatively unknown in Low and Middle-Income countries (LMICs) such as those in Latin America (LatAm). The primary aim of this study was to investigate the psychosocial impact of genetic testing in asymptomatic individuals from families with ADAD. We conducted a non randomized, controlled trial among ADAD families in Colombia and Argentina. The primary outcome included change from baseline in depression and general anxiety in the test group relative to the control group. Participants were categorized based on their decision to learn their genetic status, with further comparisons between mutation-positive versus mutation-negative individuals within those informed. Psychological impacts were measuring using validated scales for depression and anxiety in the group relative to the control group. Of the 122 eligible participants, 97 completed the GTC protocol; 87 opted to learn their genetic status. 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. Mutation-positive carriers who learned their genetic status experienced a statistically significant increase in depression scores but remained below the cut-off point considered indicative of clinically significant depression. Our primary finding is showed no clinically meaningful differences in distress-related outcomes between individuals learning their genetic status relative to those who didn't. Our findings confirm that genetic testing is well-tolerated when using a protocol that provides screening, education, counseling, and follow-up sessions. In addition, we provide preliminary insights into the psychological impact associated with learning one's genetic status in familial AD, contributing significantly to the field of medical genetics in the region.

Background Genetic testing for individuals with dominantly inherited Alzheimer’s disease (DIAD) is now of greater relevance due to the existence of therapeutic trials available to this population. However, the impact and main drivers influencing the decision to seek genetic testing are relatively unknown in Latin America (LatAm). Here we present results from a regional genetic counseling and testing protocol implemented in LatAm. Method Our aim was to investigate the psychosocial impact of genetic testing in asymptomatic individuals from families with DIAD. A non‐randomized, controlled, prospective observational trial was conducted. Asymptomatic, first‐degree relatives of patients with DIAD from families with a presenilin 1, pathogenic variant (p.I416T or p.M146L) were interviewed before and after genetic testing. Group allocation was done according to participants’ choice (non‐randomized). Participants who received their genetic status (GS) were allocated to the test group, while those who opted out were allocated to the observational group. The primary outcome included change from baseline in depression, general anxiety, and health‐related anxiety in the test group relative to the observational group, using linear mixed effects models and chi‐squared tests. Result Forty‐five participants from Colombia and Argentina were invited and enrolled in the study. Thirty‐six individuals completed the genetic counseling sessions, and 25/36 (69.4%) learned their GS. Compared to families in Colombia, participants from Argentina were more likely to seek counseling and learn their GS (8/23, 34.9% vs, 17/20, 85.0%, respectively). Following genetic counseling, we found no significant differences between the group that learned their GS and those who did not learn their GS in anxiety (mean = 13.5, SD = 3.2 vs. 15.1, SD = 2.5, p = 0.2) or depression (mean = 5.4, SD = 2.3 vs. mean = 8.0, SD = 6.5, p = 0.6) scores. For both groups, anxiety and depression scores remained below cutoffs for clinical concern and without significant changes relative to baseline value levels. Conclusion Our pilot study shows that a structured genetic counseling and testing protocol for individuals at‐risk of DIAD is safe. We found relevant cross‐country differences in willingness to learn genetic status, which may reflect differences in religion, educational level, and urban vs rural areas, among others. Future studies should include larger cohorts and expand to other countries in LatAm.

Background This study evaluates a tailored genetic counseling and testing (GTC) protocol for families at risk of Autosomal Dominant Alzheimer ´s Disease (ADAD) in Latin America, focusing on the essential cultural and regional adaptations. Several factors may influence the decision of whether family members decide to learn genetic status. Although the main drivers influencing the decisions to seek genetic testing have been widely studied in High‐Income Counties (HIC), these questions remain relatively unknown in Low and Middle‐Income countries (LMICs) such as those in Latin America (LatAm). Method The primary aim of this study was to investigate the psychosocial impact of genetic testing in asymptomatic individuals from families with ADAD. We conducted a non randomized, controlled trial among ADAD families in Colombia and Argentina. The primary outcome included change from baseline in depression and general anxiety in the test group relative to the control group. Participants were categorized based on their decision to learn their genetic status, with further comparisons between mutation‐positive versus mutation‐negative individuals within those informed. Psychological impacts were measuring using validated scales for depression and anxiety in the group relative to the control group. Result Of the 122 eligible participants, 97 completed the GTC protocol; 87 opted to learn their genetic status. 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. Mutation‐positive carriers who learned their genetic status experienced a statistically significant increase in depression scores but remained below the cut‐off point considered indicative of clinically significant depression. Conclusion Our primary finding is showed no clinically meaningful differences in distress‐related outcomes between individuals learning their genetic status relative to those who didn’t. Our findings confirm that genetic testing is well‐tolerated when using a protocol that provides screening, education, counseling, and follow‐up sessions. In addition, we provide preliminary insights into the psychological impact associated with learning one's genetic status in familial AD, contributing significantly to the field of medical genetics in the region.

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.