Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration

An Italian Consensus Protocol

Martina Bocchetta, Anna Mega, Livia Bernardi, Emilio Di Maria, Luisa Benussi, Giuliano Binetti, B. Borroni, Rosanna Colao, Giuseppe Di Fede, Silvia Fostinelli, Daniela Galimberti, Massimo Gennarelli, Roberta Ghidoni, Irene Piaceri, Michela Pievani, Corinna Porteri, V. Redaelli, Giacomina Rossi, Silvia Suardi, Claudio Babiloni & 18 others Elio Angelo Scarpini, Fabrizio Tagliavini, A. Padovani, B. Nacmias, S. Sorbi, Giovanni Battista Frisoni, Amalia C. Bruni, Marco Bozzali, Lucilla Parnetti, Carlo Ferrarese, Stefano Cappa, C. Marra, Carlo Masullo, Innocenzo Rainero, Vincenzo Silani, Giuseppe Sorrentino, G. Bruno, Annachiara Cagnin

Research output: Contribution to journalArticle

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. 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.

Original languageEnglish
Pages (from-to)277-291
Number of pages15
JournalJournal of Alzheimer's Disease
Volume51
Issue number1
DOIs
Publication statusPublished - Feb 27 2016

Fingerprint

Frontotemporal Lobar Degeneration
Genetic Counseling
Genetic Testing
Consensus
Alzheimer Disease
Psychology
Dementia
Clinical Trials
Decision Trees
Disclosure
Primary Prevention
Practice Guidelines
Italy
Psychiatry
Appointments and Schedules
Referral and Consultation
Guidelines
Mutation

Keywords

  • Alzheimer's disease
  • frontotemporal degeneration
  • genetic counseling
  • genetic testing

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology

Cite this

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration : An Italian Consensus Protocol. / Bocchetta, Martina; Mega, Anna; Bernardi, Livia; Di Maria, Emilio; Benussi, Luisa; Binetti, Giuliano; Borroni, B.; Colao, Rosanna; Di Fede, Giuseppe; Fostinelli, Silvia; Galimberti, Daniela; Gennarelli, Massimo; Ghidoni, Roberta; Piaceri, Irene; Pievani, Michela; Porteri, Corinna; Redaelli, V.; Rossi, Giacomina; Suardi, Silvia; Babiloni, Claudio; Scarpini, Elio Angelo; Tagliavini, Fabrizio; Padovani, A.; Nacmias, B.; Sorbi, S.; Frisoni, Giovanni Battista; Bruni, Amalia C.; Bozzali, Marco; Parnetti, Lucilla; Ferrarese, Carlo; Cappa, Stefano; Marra, C.; Masullo, Carlo; Rainero, Innocenzo; Silani, Vincenzo; Sorrentino, Giuseppe; Bruno, G.; Cagnin, Annachiara.

In: Journal of Alzheimer's Disease, Vol. 51, No. 1, 27.02.2016, p. 277-291.

Research output: Contribution to journalArticle

Bocchetta, M, Mega, A, Bernardi, L, Di Maria, E, Benussi, L, Binetti, G, Borroni, B, Colao, R, Di Fede, G, Fostinelli, S, Galimberti, D, Gennarelli, M, Ghidoni, R, Piaceri, I, Pievani, M, Porteri, C, Redaelli, V, Rossi, G, Suardi, S, Babiloni, C, Scarpini, EA, Tagliavini, F, Padovani, A, Nacmias, B, Sorbi, S, Frisoni, GB, Bruni, AC, Bozzali, M, Parnetti, L, Ferrarese, C, Cappa, S, Marra, C, Masullo, C, Rainero, I, Silani, V, Sorrentino, G, Bruno, G & Cagnin, A 2016, 'Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol', Journal of Alzheimer's Disease, vol. 51, no. 1, pp. 277-291. https://doi.org/10.3233/JAD-150849
Bocchetta, Martina ; Mega, Anna ; Bernardi, Livia ; Di Maria, Emilio ; Benussi, Luisa ; Binetti, Giuliano ; Borroni, B. ; Colao, Rosanna ; Di Fede, Giuseppe ; Fostinelli, Silvia ; Galimberti, Daniela ; Gennarelli, Massimo ; Ghidoni, Roberta ; Piaceri, Irene ; Pievani, Michela ; Porteri, Corinna ; Redaelli, V. ; Rossi, Giacomina ; Suardi, Silvia ; Babiloni, Claudio ; Scarpini, Elio Angelo ; Tagliavini, Fabrizio ; Padovani, A. ; Nacmias, B. ; Sorbi, S. ; Frisoni, Giovanni Battista ; Bruni, Amalia C. ; Bozzali, Marco ; Parnetti, Lucilla ; Ferrarese, Carlo ; Cappa, Stefano ; Marra, C. ; Masullo, Carlo ; Rainero, Innocenzo ; Silani, Vincenzo ; Sorrentino, Giuseppe ; Bruno, G. ; Cagnin, Annachiara. / Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration : An Italian Consensus Protocol. In: Journal of Alzheimer's Disease. 2016 ; Vol. 51, No. 1. pp. 277-291.
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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

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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.

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KW - frontotemporal degeneration

KW - genetic counseling

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