Richard Pither, PhD, Cytox Ltd, Oxford, UK, gives an overview of Alzheimer’s disease (AD) genetic testing at present, which is primarily confined to research and looking mainly at the APOE gene. Clinically, it is not routinely used because it does not provide much information since many APOE4 carriers do not develop AD. Conversely, about 40% of the AD population does not carry the APOE4 variant. Dr Pither highlights that performance deficits need to be addressed before genetic testing is adopted in the clinical setting. The genoSCORE™-LAB has been developed to close the gap between APOE and the whole genetic component associated with increased risk of AD. This non-invasive test only requires a saliva sample, analyses over 112,000 single nucleotide polymorphisms, and generates a polygenic risk score capable of predicting the risk of an individual developing AD, which is more informative than only reporting on the APOE status. This interview was conducted during the virtual 2021 World Congress on Controversies in Neurology (CONy) meeting.
