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 BabiloniElio 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 journalArticlepeer-review


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
Issue number1
Publication statusPublished - Feb 27 2016


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

ASJC Scopus subject areas

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


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