TY - JOUR
T1 - Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration
T2 - An Italian Consensus Protocol
AU - Bocchetta, Martina
AU - Mega, Anna
AU - Bernardi, Livia
AU - Di Maria, Emilio
AU - Benussi, Luisa
AU - Binetti, Giuliano
AU - Borroni, B.
AU - Colao, Rosanna
AU - Di Fede, Giuseppe
AU - Fostinelli, Silvia
AU - Galimberti, Daniela
AU - Gennarelli, Massimo
AU - Ghidoni, Roberta
AU - Piaceri, Irene
AU - Pievani, Michela
AU - Porteri, Corinna
AU - Redaelli, V.
AU - Rossi, Giacomina
AU - Suardi, Silvia
AU - Babiloni, Claudio
AU - Scarpini, Elio Angelo
AU - Tagliavini, Fabrizio
AU - Padovani, A.
AU - Nacmias, B.
AU - Sorbi, S.
AU - Frisoni, Giovanni Battista
AU - Bruni, Amalia C.
AU - Bozzali, Marco
AU - Parnetti, Lucilla
AU - Ferrarese, Carlo
AU - Cappa, Stefano
AU - Marra, C.
AU - Masullo, Carlo
AU - Rainero, Innocenzo
AU - Silani, Vincenzo
AU - Sorrentino, Giuseppe
AU - Bruno, G.
AU - Cagnin, Annachiara
PY - 2016/2/27
Y1 - 2016/2/27
N2 - 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. Method: 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 familialADand FTLD from patients and at-risk relatives, who may also be eligible participants for novel prevention clinical trials.
AB - 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. Method: 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 familialADand FTLD from patients and at-risk relatives, who may also be eligible participants for novel prevention clinical trials.
KW - Alzheimer's disease
KW - frontotemporal degeneration
KW - genetic counseling
KW - genetic testing
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U2 - 10.3233/JAD-150849
DO - 10.3233/JAD-150849
M3 - Article
SN - 1387-2877
VL - 51
SP - 277
EP - 291
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
IS - 1
ER -