Pablo M Bagnati, Marisol Londoño Castaño, María Laura Fernández, Beatriz Mora Henao, Patricio Chrem, David Aguillón, Luz Estela Varela, Juan Diego Barbaran, Yudy Leon, Ezequiel Surace, Claudia C Madrigal, Juan Pablo Picasso, Claudia P Ramos, Carlos M Restrepo Fernández, Gabriela Vigo, Laura Ramirez Aguilar, Gabriel Alberto VargasCuadros, Mauricio Arcos-Burgos, Erika Mariana Longoria, Ellen Ziegemeier, Eric McDade, Randall J Bateman, Ricardo F Allegri, Francisco Lopera, Jorge J Llibre-Guerra
{"title":"遗传咨询和检测对拉丁美洲家族性阿尔茨海默病高风险个体的影响：一项非随机对照试验","authors":"Pablo M Bagnati, Marisol Londoño Castaño, María Laura Fernández, Beatriz Mora Henao, Patricio Chrem, David Aguillón, Luz Estela Varela, Juan Diego Barbaran, Yudy Leon, Ezequiel Surace, Claudia C Madrigal, Juan Pablo Picasso, Claudia P Ramos, Carlos M Restrepo Fernández, Gabriela Vigo, Laura Ramirez Aguilar, Gabriel Alberto VargasCuadros, Mauricio Arcos-Burgos, Erika Mariana Longoria, Ellen Ziegemeier, Eric McDade, Randall J Bateman, Ricardo F Allegri, Francisco Lopera, Jorge J Llibre-Guerra","doi":"10.1002/dad2.70102","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>The GCT protocol effectively managed psychological impacts in ADAD families and was positively received, demonstrating the importance of culturally adapted GCT protocols.</p><p><strong>Highlights: </strong>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.</p>","PeriodicalId":53226,"journal":{"name":"Alzheimer''s and Dementia: Diagnosis, Assessment and Disease Monitoring","volume":"17 2","pages":"e70102"},"PeriodicalIF":4.0000,"publicationDate":"2025-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11973255/pdf/","citationCount":"0","resultStr":"{\"title\":\"Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non-randomized controlled trial.\",\"authors\":\"Pablo M Bagnati, Marisol Londoño Castaño, María Laura Fernández, Beatriz Mora Henao, Patricio Chrem, David Aguillón, Luz Estela Varela, Juan Diego Barbaran, Yudy Leon, Ezequiel Surace, Claudia C Madrigal, Juan Pablo Picasso, Claudia P Ramos, Carlos M Restrepo Fernández, Gabriela Vigo, Laura Ramirez Aguilar, Gabriel Alberto VargasCuadros, Mauricio Arcos-Burgos, Erika Mariana Longoria, Ellen Ziegemeier, Eric McDade, Randall J Bateman, Ricardo F Allegri, Francisco Lopera, Jorge J Llibre-Guerra\",\"doi\":\"10.1002/dad2.70102\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>The GCT protocol effectively managed psychological impacts in ADAD families and was positively received, demonstrating the importance of culturally adapted GCT protocols.</p><p><strong>Highlights: </strong>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.</p>\",\"PeriodicalId\":53226,\"journal\":{\"name\":\"Alzheimer''s and Dementia: Diagnosis, Assessment and Disease Monitoring\",\"volume\":\"17 2\",\"pages\":\"e70102\"},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2025-04-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11973255/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Alzheimer''s and Dementia: Diagnosis, Assessment and Disease Monitoring\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1002/dad2.70102\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/4/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Alzheimer''s and Dementia: Diagnosis, Assessment and Disease Monitoring","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/dad2.70102","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non-randomized controlled trial.
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.
期刊介绍：
Alzheimer''s & Dementia: Diagnosis, Assessment & Disease Monitoring (DADM) is an open access, peer-reviewed, journal from the Alzheimer''s Association® that will publish new research that reports the discovery, development and validation of instruments, technologies, algorithms, and innovative processes. Papers will cover a range of topics interested in the early and accurate detection of individuals with memory complaints and/or among asymptomatic individuals at elevated risk for various forms of memory disorders. The expectation for published papers will be to translate fundamental knowledge about the neurobiology of the disease into practical reports that describe both the conceptual and methodological aspects of the submitted scientific inquiry. Published topics will explore the development of biomarkers, surrogate markers, and conceptual/methodological challenges. Publication priority will be given to papers that 1) describe putative surrogate markers that accurately track disease progression, 2) biomarkers that fulfill international regulatory requirements, 3) reports from large, well-characterized population-based cohorts that comprise the heterogeneity and diversity of asymptomatic individuals and 4) algorithmic development that considers multi-marker arrays (e.g., integrated-omics, genetics, biofluids, imaging, etc.) and advanced computational analytics and technologies.
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