Impact and attitudes toward genetic counseling and testing in individuals at high risk for familial Alzheimer’s Disease

Background Pre‐symptomatic genetic testing for individuals with dominantly inherited Alzheimer’s disease (DIAD) is now attracting interest due to the existence of therapeutic trials available to this population. Although the impact and the main drivers influencing the decision to seek genetic testing have been widely studied in High‐Income Countries, these reasons remain relatively unknown in Latin America (LatAm). Methods This study was designed to explore attitudes toward genetic testing and the impact of finding a disease‐causing mutation for early‐onset Alzheimer’s disease. The genetic counseling sessions, included a culturally sensitive program, developed in collaboration with local experts. Asymptomatic, first‐degree relatives of patients with Alzheimer’s disease dementia from an extended Colombian family (∼300) with a presenilin 1 pathogenic variant (p. I416T) were interviewed before and after genetic testing. Pre and post genetic counseling and testing measurements included the Montgomery Depression Scale, the Zung Anxiety Rating, and Genetic Counseling Outcome Scale. Primary analyses examined change in anxiety and depression scores 3 months after disclosure using linear mixed effects models and chi‐squared tests. Secondary outcomes included short Health Anxiety Inventory and knowledge about Alzheimer disease. Results Twenty‐five participants were invited and enrolled in the study (Figure 1). Nineteen individuals completed the genetic counseling sessions and 8/18 (44.4%) learned their genetic status. Three months after genetic status disclosure, we found no significant differences between the group that learned their genetic status and those how did not learn their genetic status 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 values levels. Conclusion Our pilot study shows that a structured genetic counseling and testing protocol for individuals at‐risk of DIAD is safe and and may provide psychological benefits. Future studies should include larger cohorts and expand to other countries in LatAm.