title: Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.
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.
  
  
  CONCLUSIONS
  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.affiliation: Laboratory of Alzheimer's Neuroimaging and Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.|Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Bocchetta
authors.affiliation: Laboratory of Alzheimer's Neuroimaging and Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Mega
authors.affiliation: Centro Regionale di Neurogenetica, ASP Catanzaro, Lamezia terme (CZ) Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Bernardi
authors.affiliation: Department of Health Sciences, University of Genova and Division of Medical Genetics, Galliera Hospital, Genova, Italy.
authors.forename: Emilio
authors.initials: E
authors.lastname: Di Maria
authors.affiliation: Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Benussi
authors.affiliation: IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Giuliano
authors.initials: G
authors.lastname: Binetti
authors.affiliation: University of Brescia and Centre for Ageing Brain and Neurodegenerative Disorders, Neurology Unit, Brescia, Brescia, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Borroni
authors.affiliation: Centro Regionale di Neurogenetica, ASP Catanzaro, Lamezia terme (CZ) Italy.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Colao
authors.affiliation: IRCCS Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Fede
authors.affiliation: Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Fostinelli
authors.affiliation: University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.affiliation: Genetic Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Gennarelli
authors.affiliation: Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Ghidoni
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Piaceri
authors.affiliation: Laboratory of Alzheimer's Neuroimaging and Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Pievani
authors.affiliation: Bioethics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
authors.forename: Corinna
authors.initials: C
authors.lastname: Porteri
authors.affiliation: IRCCS Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Veronica
authors.initials: V
authors.lastname: Redaelli
authors.affiliation: IRCCS Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Giacomina
authors.initials: G
authors.lastname: Rossi
authors.affiliation: IRCCS Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Suardi
authors.affiliation: Departiment of Physiology and Pharmacology, University of Rome "La Sapienza", Rome, Italy; IRCCS San Raffaele Pisana of Rome, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Babiloni
authors.affiliation: University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.affiliation: IRCCS Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Tagliavini
authors.affiliation: University of Brescia and Centre for Ageing Brain and Neurodegenerative Disorders, Neurology Unit, Brescia, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
authors.affiliation: Laboratory of Alzheimer's Neuroimaging and Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.|Memory Clinic and LANVIE - Laboratory of Neuroimaging of Aging, University Hospitals and University of Geneva, Geneva, Switzerland.
authors.forename: Giovanni B
authors.initials: GB
authors.lastname: Frisoni
authors.affiliation: Centro Regionale di Neurogenetica, ASP Catanzaro, Lamezia terme (CZ) Italy.
authors.forename: Amalia C
authors.initials: AC
authors.lastname: Bruni
mesh_terms: D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D005260:Female; D005500:Follow-Up Studies; D057174:Frontotemporal Lobar Degeneration / Q000134:cerebrospinal fluid / Q000235:genetics*; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D008297:Male; D010446:Peptide Fragments / Q000134:cerebrospinal fluid; D011569:Psychiatric Status Rating Scales
chemical_list: D016229:Amyloid beta-Peptides; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42)
keywords: Alzheimer’s disease; frontotemporal degeneration; genetic counseling; genetic testing