ArticleAlzheimer's research & therapy2020
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Article in Alzheimer's research & therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 14 citations in OpenAlex.
- Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Impact of diagnostic genetic testing for familial dementia: experiences of patients and relatives.Alzheimer's research & therapy · 2026Article
- The landscape of dementia research, diagnosis, treatment, and care in Latin America.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Review
- Deciding on genetic testing for familial dementia: Perspectives of patients and families.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Communicating the risk of dementia: a scoping review.BMJ neurology open · 2025Article
- Ideal vitamin D and handgrip strength counteracts the risk effect of APOE genotype on dementia: a population-based longitudinal study.Journal of translational medicine · 2023Article
- Association of laxatives use with incident dementia and modifying effect of genetic susceptibility: a population-based cohort study with propensity score matching.BMC geriatrics · 2023Article
- Disclosure of Genetic Risk Factors for Alzheimer's Disease to Cognitively Healthy Individuals-From Current Practice towards a Personalised Medicine Scenario.Biomedicines · 2022Review
- Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders.Journal of personalized medicine · 2021Review
- Impact of genetic counseling and testing in individuals at high risk of familial Alzheimer's disease from Latin America: a non-randomized controlled trial.Alzheimer's & dementia (Amsterdam, Netherlands)Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA consensus protocol for genetic counselling and testing of familial dementia, the Italian Dominantly Inherited Alzheimer's and Frontotemporal Network (IT-DIAfN) protocol, has been developed in Italy by a network of expert dementia centres. The aim of this study is to evaluate feasibility and acceptability of the genetic counselling and testing process, as undertaken according to the IT-DIAfN protocol in one of the IT-DIAfN dementia research centres.
methodsThe protocol was tested by a multidisciplinary team at the IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy, on affected individuals with suspected inherited forms of Alzheimer's disease (AD) or frontotemporal dementia (FTD), and to healthy at-risk relatives. The genetic counselling and testing process consisted of (i) pre-test consultation and psychological assessment (ii) genetic testing, (iii) genetic test result disclosure and (iv) follow-up consultation and psychological assessment.
resultsTwenty affected individuals from 17 families fulfilled the family history criteria of the IT-DIAfN protocol for suspected inherited dementia (17 for AD, 2 for FTD, 1 for inclusion body myopathy with Paget disease of bone and frontotemporal dementia) and were included in the protocol. Nineteen out of 20 affected individuals received the genetic test result (one left after the pre-test consultation being not ready to cope with an unfavourable outcome). A pathogenic mutation was found in 6 affected individuals (1 in PSEN1, 2 in PSEN2, 1 in GRN, 1 in MAPT, 1 in VCP). Eleven healthy at-risk relatives asked to undergo predictive testing and were included in the protocol. Three completed the protocol, including follow-up; one did not ask for the genetic test result after genetic testing; and eight withdrew before the genetic testing, mainly due to an increased awareness about the possible consequences of an unfavourable test result. To date, no catastrophic reactions were reported at the follow-up.
conclusionsOur case series shows that a structured genetic counselling and testing protocol for inherited dementia can be implemented in both affected individuals and at-risk relatives in a research setting. The procedure was shown to be safe in terms of occurrence of catastrophic events. A formal validation in larger cohorts is needed.
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