Scientific article
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Disclosure of Genetic Risk Factors for Alzheimer's Disease to Cognitively Healthy Individuals-From Current Practice towards a Personalised Medicine Scenario

Published inBiomedicines, vol. 10, no. 12, 3177
Publication date2022-12-08
First online date2022-12-08
Abstract

Alzheimer's disease (AD) is a genetically complex disorder. In addition to the relatively small number of pathogenic variants causing autosomal dominant AD, many others have been associated with the much more common sporadic form. The E4 allele of the Apolipoprotein E (APOE) is the first discovered genetic risk factor for AD. In addition, more than 70 genetic risk loci contributing to AD have been identified. Current guidelines do not recommend AD susceptibility genetic testing in cognitively healthy adults because the implications for clinical care are limited. However, secondary prevention clinical trials of disease-modifying therapies enrol individuals based on genetic criteria, and participants are often informed ofAPOEtesting results. Moreover, the availability of direct-to-consumer genetic testing allows individuals to learn their own AD genetic risk profile without medical supervision. A number of research protocols for AD susceptibility genetic testing have been proposed. In Italy, disclosure processes and protocols beyond those developed for inherited dementia have not been established yet. We reviewed the literature on the current practice and clinical issues related to disclosing AD genetic risk to cognitively healthy individuals and provide suggestions that may help to develop specific guidelines at the national level.

Keywords
  • APOE
  • Alzheimer’s disease
  • Italy
  • Dementia
  • Genetic counselling
  • Genetic risk
  • Genetic testing
  • Guidelines
  • Health technology assessment
  • Review
Citation (ISO format)
GALLUZZI, Samantha et al. Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals-From Current Practice towards a Personalised Medicine Scenario. In: Biomedicines, 2022, vol. 10, n° 12, p. 3177. doi: 10.3390/biomedicines10123177
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Additional URL for this publicationhttps://www.mdpi.com/2227-9059/10/12/3177
Journal ISSN2227-9059
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Creation19/03/2024 10:29:21
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