Martina Bocchetta1,2, Anna Mega1, Livia Bernardi3, Emilio Di Maria4, Luisa Benussi5, Giuliano Binetti6, Barbara Borroni7, Rosanna Colao3, Giuseppe Di Fede8, Silvia Fostinelli5, Daniela Galimberti9, Massimo Gennarelli10, Roberta Ghidoni5, Irene Piaceri11, Michela Pievani1, Corinna Porteri12, Veronica Redaelli8, Giacomina Rossi8, Silvia Suardi8, Claudio Babiloni13, Elio Scarpini9, Fabrizio Tagliavini8, Alessandro Padovani7, Benedetta Nacmias11, Sandro Sorbi11, Giovanni B Frisoni1,14, Amalia C Bruni3. 1. Laboratory of Alzheimer's Neuroimaging and Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy. 2. Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. 3. Centro Regionale di Neurogenetica, ASP Catanzaro, Lamezia terme (CZ) Italy. 4. Department of Health Sciences, University of Genova and Division of Medical Genetics, Galliera Hospital, Genova, Italy. 5. Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy. 6. IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy. 7. University of Brescia and Centre for Ageing Brain and Neurodegenerative Disorders, Neurology Unit, Brescia, Brescia, Italy. 8. IRCCS Fondazione Istituto Neurologico Carlo Besta, Milan, Italy. 9. University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. 10. Genetic Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy. 11. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy. 12. Bioethics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy. 13. Departiment of Physiology and Pharmacology, University of Rome "La Sapienza", Rome, Italy; IRCCS San Raffaele Pisana of Rome, Italy. 14. Memory Clinic and LANVIE - Laboratory of Neuroimaging of Aging, University Hospitals and University of Geneva, Geneva, Switzerland.
Abstract
BACKGROUND: Genetic testing of familial Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) is attracting interest thanks to innovative primary prevention clinical trials and increased request for information by at-risk individuals. However, ethical, social, and psychological implications are paramount and genetic testing must be supported by structured genetic counseling. In Italy, practice parameters and guidelines for genetic counseling in dementia are not available. OBJECTIVE: To develop a nationally harmonized protocol for genetic counseling and testing of familial AD and FTLD. METHODS: Activities were carried out in the context of the Italian Dominantly Inherited Alzheimer's and Frontotemporal Network (IT-DIAfN) project, a national network of centers of excellence with expertise in managing patients with familial AD and FTLD. A survey of the literature on genetic counseling protocols and guidelines was conducted. Local protocols for genetic counseling were surveyed. Differences and commonalities among protocols were identified and discussed among project partners. Consensus was reached following implicit aggregation methods. RESULTS: Consensus was reached on a protocol for patients with clinically diagnosed familial AD or FTLD and a distinct protocol for their at-risk relatives. Genetic counseling should be provided by a multidisciplinary team including a geneticist, a neurologist/geriatrician, and a psychologist/psychiatrist, according to the following schedule: (i) initial consultation with tailored information on the genetics of the dementias; (ii) clinical, psychological, and cognitive assessment; if deemed appropriate (iii) genetic testing following a structured decision tree for gene mutation search; (iv) genetic testing result disclosure; (v) psychological support follow-up. CONCLUSION: This genetic counseling protocol provides Italian centers with a line of shared practice for dealing with the requests for genetic testing for familial AD and FTLD from patients and at-risk relatives, who may also be eligible participants for novel prevention clinical trials.
BACKGROUND: Genetic testing of familial Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) is attracting interest thanks to innovative primary prevention clinical trials and increased request for information by at-risk individuals. However, ethical, social, and psychological implications are paramount and genetic testing must be supported by structured genetic counseling. In Italy, practice parameters and guidelines for genetic counseling in dementia are not available. OBJECTIVE: To develop a nationally harmonized protocol for genetic counseling and testing of familial AD and FTLD. METHODS: Activities were carried out in the context of the Italian Dominantly Inherited Alzheimer's and Frontotemporal Network (IT-DIAfN) project, a national network of centers of excellence with expertise in managing patients with familial AD and FTLD. A survey of the literature on genetic counseling protocols and guidelines was conducted. Local protocols for genetic counseling were surveyed. Differences and commonalities among protocols were identified and discussed among project partners. Consensus was reached following implicit aggregation methods. RESULTS: Consensus was reached on a protocol for patients with clinically diagnosed familial AD or FTLD and a distinct protocol for their at-risk relatives. Genetic counseling should be provided by a multidisciplinary team including a geneticist, a neurologist/geriatrician, and a psychologist/psychiatrist, according to the following schedule: (i) initial consultation with tailored information on the genetics of the dementias; (ii) clinical, psychological, and cognitive assessment; if deemed appropriate (iii) genetic testing following a structured decision tree for gene mutation search; (iv) genetic testing result disclosure; (v) psychological support follow-up. CONCLUSION: This genetic counseling protocol provides Italian centers with a line of shared practice for dealing with the requests for genetic testing for familial AD and FTLD from patients and at-risk relatives, who may also be eligible participants for novel prevention clinical trials.
Authors: Samantha Galluzzi; Anna Mega; Giuseppe Di Fede; Cristina Muscio; Sara Fascendini; Luisa Benussi; Fabrizio Tagliavini; Giovanni B Frisoni; Emilio Di Maria Journal: Alzheimer Dis Assoc Disord Date: 2022-03-16 Impact factor: 2.357
Authors: Fulvio Lauretani; Yari Longobucco; Francesca Ferrari Pellegrini; Aurelio Maria De Iorio; Chiara Fazio; Raffaele Federici; Elena Gallini; Umberto La Porta; Giulia Ravazzoni; Maria Federica Roberti; Marco Salvi; Irene Zucchini; Giovanna Pelà; Marcello Maggio Journal: Front Psychol Date: 2020-11-26