B3987 - Validation of the Our Future Health genotyping assay - 25/04/2022

B number: 
Principal applicant name: 
Benjamin Cairns | Our Future Health (United Kingdom)
Dr Ryan Arathimos, Dr Michael Cook
Title of project: 
Validation of the Our Future Health genotyping assay
Proposal summary: 

Our Future Health will collect information from up to 5 million volunteers from across the UK to create one of the most detailed pictures we’ve ever had of people’s health. Researchers will be able to use this information to discover more effective ways to prevent, detect and treat diseases. As part of the programme, genetic information will be extracted from blood samples collected from the volunteers, using a new genetic test which will give information on over 600,000 genetic variants (DNA which may vary from person to person). Before it can be used, however, the test will require preliminary accuracy checks and other comparisons on a collection of samples where the correct genetic information is already known. We propose to conduct these checks on a set of 1800 samples from the ALSPAC cohort, which have established cell-lines for DNA extraction and whole genome sequence information as part of the UK10K programme. These samples will be tested by the supplier of the genetic test, and the results sent to Our Future Health for comparison against the reference genetic information. For any genetic variants that do not meet our pre-specified level of accuracy, this part of the test will be re-designed by the supplier and the assessments repeated. This work will help to ensure that the Our Future Health genetic tests are as accurate as possible, and through the Our Future Health programme will contribute to research to prevent, detect and treat disease for decades to come.

Impact of research: 
This performance assessment study of the genotyping assay is vital to the Our Future Health research programme and to the application of the genotyping assay to up to 5 million participant samples. Our Future Health aims to speed up the discovery of new methods of early disease detection, and the evaluation of new diagnostic tools, to help identify and treat diseases early when outcomes are usually better. Building this large resource will facilitate a new generation of discovery and translational research that will advance the development and testing of early diagnostic technologies and preventive (or ‘personalised precision health’) interventions.
Date proposal received: 
Tuesday, 1 February, 2022
Date proposal approved: 
Monday, 7 February, 2022
Genetics, No specific diseases/conditions - assay validation study to support future large-scale research across a range of diseases., Microarrays, Statistical methods, Biological samples -e.g. blood, cell lines, saliva, etc., Cohort studies - attrition, bias, participant engagement, ethics, Genetics, Genomics, Statistical methods