Bocchetta Martina, Mega Anna, Bernardi Livia, Di Maria Emilio, Benussi Luisa, Binetti Giuliano, Borroni Barbara, Colao Rosanna, Di Fede Giuseppe, Fostinelli Silvia, Galimberti Daniela, Gennarelli Massimo, Ghidoni Roberta, Piaceri Irene, Pievani Michela, Porteri Corinna, Redaelli Veronica, Rossi Giacomina, Suardi Silvia, Babiloni Claudio, Scarpini Elio, Tagliavini Fabrizio, Padovani Alessandro, Nacmias Benedetta, Sorbi Sandro, Frisoni Giovanni B, Bruni Amalia C
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.
J Alzheimers Dis. 2016;51(1):277-91. doi: 10.3233/JAD-150849.
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.
To develop a nationally harmonized protocol for genetic counseling and testing of familial AD and FTLD.
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.
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.
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.
由于创新性的一级预防临床试验以及高危个体对信息需求的增加，家族性阿尔茨海默病（AD）和额颞叶痴呆（FTLD）的基因检测正引起人们的关注。然而，伦理、社会和心理影响至关重要，基因检测必须得到结构化遗传咨询的支持。在意大利，痴呆症遗传咨询的实践参数和指南尚不存在。
制定一项全国统一的家族性AD和FTLD遗传咨询与检测方案。
这些活动是在意大利显性遗传阿尔茨海默病和额颞叶网络（IT-DIAfN）项目的背景下开展的，该项目是一个由卓越中心组成的全国性网络，这些中心在管理家族性AD和FTLD患者方面具有专业知识。对有关遗传咨询方案和指南的文献进行了调查。对当地的遗传咨询方案进行了调查。确定了方案之间的差异和共性，并在项目合作伙伴之间进行了讨论。采用隐性汇总方法达成了共识。
就针对临床诊断为家族性AD或FTLD患者的方案以及针对其高危亲属的不同方案达成了共识。遗传咨询应由一个多学科团队提供，该团队包括一名遗传学家、一名神经科医生/老年病科医生和一名心理学家/精神科医生，具体安排如下：（i）进行初次咨询，提供有关痴呆症遗传学的定制信息；（ii）进行临床、心理和认知评估；若认为合适，（iii）按照用于基因突变搜索的结构化决策树进行基因检测；（iv）披露基因检测结果；（v）进行心理支持随访。
该遗传咨询方案为意大利各中心提供了一套共同的实践方法，以应对患者及其高危亲属对家族性AD和FTLD基因检测的需求，这些患者和高危亲属也可能是新型预防临床试验的合格参与者。
