A STREAMLINED INTEGRATED PROCESS TO PREDICT GENETIC RISK OF ALZHEIMER’S DISEASE

The development of diagnostic tools to identify disease risk is critical to enable selection of suitable individuals for inclusion into clinical trials and cohort studies. The utility of Polygenic Risk Scores (PRS) is gaining increasing attention for generating an individual genetic risk profile and subsequent estimation of future disease risk in Alzheimer's Disease. Cytox continues to work on the implementation of its proprietary platform, SNPfitRTM as part of a streamlined integrated process, taking DNA from either a blood or saliva sample, through genotyping and PRS calculation to produce an estimation of risk of Alzheimer's Disease. Blood, saliva or DNA samples are shipped to one of our global laboratory partners where DNA extraction is carried out if required. Post-QC, samples are processed on the GeneTitanTM instrument using Cytox's proprietary variaTECTTM array, built on the Thermo Fisher Scientific Axiom array platform, to generate genotypes for use in PRS calculations within our SNPfitR analytical software, resulting in a risk assessment for each sample as part of a full report package. Reproducible and high quality data for calculating AD PRS assessment are produced from DNA extracted from either blood or saliva samples. The Cytox integrated process, combining the use of a proprietary array and the SNPfitR software package, offers a simple and high-quality route from sample collection to AD risk assessment. This could provide an efficient, cost-effective methodology for subject enrichment in clinical trials and reduce reliance upon expensive PET imaging or invasive CSF measurement procedures.