Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.


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.

DOI: 10.3233/JAD-150849

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@article{Bocchetta2016GeneticCA, title={Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.}, author={Martina Bocchetta and A. M. Mega and Livia Bernardi and Emilio Di Maria and Luisa Benussi and Giuliano Binetti and Barbara Borroni and Rosanna Colao and Giuseppe di Fede and Silvia Fostinelli and D Galimberti and Massimo Gennarelli and Roberta Ghidoni and Irene Piaceri and Michela Pievani and Corinna Porteri and Veronica Redaelli and Giacomina Rossi and Silvia Suardi and Claudio Babiloni and Elio Angelo Scarpini and Fabrizio Tagliavini and Alessandro Padovani and Benedetta Nacmias and Sandro Sorbi and Giovanni B. Frisoni and Amalia Cecilia Bruni}, journal={Journal of Alzheimer's disease : JAD}, year={2016}, volume={51 1}, pages={277-91} }