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‐rando...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-04-01
|
| Series: | Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/dad2.70102 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849683280342810624 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Pablo M. Bagnati |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2fceca5cd19c46babca461486fd77fb6 |
| institution | DOAJ |
| issn | 2352-8729 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Wiley |
| record_format | Article |
| series | Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring |
| spelling | doaj-art-2fceca5cd19c46babca461486fd77fb62025-08-20T03:23:57ZengWileyAlzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring2352-87292025-04-01172n/an/a10.1002/dad2.70102Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non‐randomized controlled trialPablo M. Bagnati0Marisol Londoño Castaño1María Laura Fernández2Beatriz Mora Henao3Patricio Chrem4David Aguillón5Luz Estela Varela6Juan Diego Barbaran7Yudy Leon8Ezequiel Surace9Claudia C. Madrigal10Juan Pablo Picasso11Claudia P. Ramos12Carlos M. Restrepo Fernández13Gabriela Vigo14Laura Ramirez Aguilar15Gabriel Alberto VargasCuadros16Mauricio Arcos‐Burgos17Erika Mariana Longoria18Ellen Ziegemeier19Eric McDade20Randall J. Bateman21Ricardo F. Allegri22Francisco Lopera23Jorge J. Llibre‐Guerra24Department of Cognitive Neurology Neuropsychiatry and Neuropsychology Fleni Neurological Research Institute Buenos Aires ArgentinaGrupo de Neurociencias de Antioquia Facultad de Medicina Universidad de Antioquia Medellín ColombiaDepartment of Cognitive Neurology Neuropsychiatry and Neuropsychology Fleni Neurological Research Institute Buenos Aires ArgentinaFundación Médica de Enfermedades Raras Medellín ColombiaDepartment of Cognitive Neurology Neuropsychiatry and Neuropsychology Fleni Neurological Research Institute Buenos Aires ArgentinaGrupo de Neurociencias de Antioquia Facultad de Medicina Universidad de Antioquia Medellín ColombiaFundación Médica de Enfermedades Raras Medellín ColombiaFundación Médica de Enfermedades Raras Medellín ColombiaGrupo de Neurociencias de Antioquia Facultad de Medicina Universidad de Antioquia Medellín ColombiaDepartment of Cognitive Neurology Neuropsychiatry and Neuropsychology Fleni Neurological Research Institute Buenos Aires ArgentinaGrupo de Neurociencias de Antioquia Facultad de Medicina Universidad de Antioquia Medellín ColombiaDepartment of Cognitive Neurology Neuropsychiatry and Neuropsychology Fleni Neurological Research Institute Buenos Aires ArgentinaGrupo de Neurociencias de Antioquia Facultad de Medicina Universidad de Antioquia Medellín ColombiaFundación Médica de Enfermedades Raras Medellín ColombiaServicio de Neurología Hospital San Bernardo Salta ArgentinaGrupo de Neurociencias de Antioquia Facultad de Medicina Universidad de Antioquia Medellín ColombiaFundación Médica de Enfermedades Raras Medellín ColombiaGrupo de Neurociencias de Antioquia Facultad de Medicina Universidad de Antioquia Medellín ColombiaCognitive Neurosciences Lab National Institute of Neurology and Neurosurgery Mexico City MexicoDepartment of Neurology Washington University School of Medicine St Louis Missouri USADepartment of Neurology Washington University School of Medicine St Louis Missouri USADepartment of Neurology Washington University School of Medicine St Louis Missouri USADepartment of Cognitive Neurology Neuropsychiatry and Neuropsychology Fleni Neurological Research Institute Buenos Aires ArgentinaGrupo de Neurociencias de Antioquia Facultad de Medicina Universidad de Antioquia Medellín ColombiaDepartment of Neurology Washington University School of Medicine St Louis Missouri USAAbstract 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.https://doi.org/10.1002/dad2.70102autosomal dominant Alzheimer's diseasecultural adaptationgenetic counseling and testingLatin Americapsychological impactvulnerabilities |
| spellingShingle | 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 Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non‐randomized controlled trial Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring autosomal dominant Alzheimer's disease cultural adaptation genetic counseling and testing Latin America psychological impact vulnerabilities |
| 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 |
| title_full | Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non‐randomized controlled trial |
| title_fullStr | Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non‐randomized controlled trial |
| title_full_unstemmed | Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non‐randomized controlled trial |
| title_short | Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non‐randomized controlled trial |
| title_sort | impact of genetic counseling and testing in individuals at high risk of familial alzheimer s disease from latin america a non randomized controlled trial |
| topic | autosomal dominant Alzheimer's disease cultural adaptation genetic counseling and testing Latin America psychological impact vulnerabilities |
| url | https://doi.org/10.1002/dad2.70102 |
| work_keys_str_mv | AT pablombagnati impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT marisollondonocastano impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT marialaurafernandez impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT beatrizmorahenao impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT patriciochrem impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT davidaguillon impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT luzestelavarela impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT juandiegobarbaran impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT yudyleon impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT ezequielsurace impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT claudiacmadrigal impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT juanpablopicasso impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT claudiapramos impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT carlosmrestrepofernandez impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT gabrielavigo impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT lauraramirezaguilar impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT gabrielalbertovargascuadros impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT mauricioarcosburgos impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT erikamarianalongoria impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT ellenziegemeier impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT ericmcdade impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT randalljbateman impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT ricardofallegri impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT franciscolopera impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial AT jorgejllibreguerra impactofgeneticcounselingandtestinginindividualsathighriskoffamilialalzheimersdiseasefromlatinamericaanonrandomizedcontrolledtrial |