New approaches to genetic counseling and testing for Alzheimer's disease and frontotemporal degeneration

Abstract

The discovery of new autosomal dominant and susceptibility genes for Alzheimer's disease (AD) and frontotemporal degeneration (FTD) is revealing important new information about the neurodegenerative process and the risk for acquiring these diseases. It is becoming increasingly clear that both the mechanisms that drive these diseases and their phenotypes overlap. New technologies will assist access to genetic testing but may increase difficulty with genetic test interpretation. Thus, the process of genetic counseling and testing for these diseases is becoming more complex. This article will review current knowledge on the genetics of AD and FTD and suggest clinical guidelines for helping families to navigate through these complexities. The implications of future discoveries will be offered.

Figure 1

Protocol for exploratory genetic testing for autosomal dominant AD and predictive genetic testing: the sequence of steps for a symptomatic patient considering genetic testing for autosomal dominant dementia followed by predictive counseling after the identification of a mutation in a family member.