Genotyping data and genetic risk score processing and delivery services

Tender description

Our Future Health is seeking to engage the market and gain feedback on viable solutions for processing genotyping data including quality control, ancestry and relatedness analysis, imputation of additional genotypes, and calculation and delivery of polygenic risk scores or other genetic prediction models including genetic counselling services. Lot 1: Our Future Health will be the UK's largest ever health research programme, aiming to build a cohort of five million people from all backgrounds and from right across the UK. Participants will be asked to complete an online questionnaire about their lifestyle and medical history and to provide a blood sample, from which DNA will be extracted and used to obtain genetic data. Our Future Health will ask for permission to combine the information and samples provided with existing information about them, including their health records. Adding these additional types of information will help to build a more comprehensive picture of health and wellbeing that could be relevant to understanding what changes people's risk of disease. Combining these multiple sources of health and health-relevant information, including genetic data, will create an incredibly detailed picture that represents the whole of the UK. Researchers will use this information to make new discoveries about human health and diseases. Our Future Health will use the health information, including genetic data, to calculate disease risk scores for its participants. Based on these risk profiles, it might be possible to better identify individuals who are at higher risk of developing certain diseases. This will provide an opportunity to test the potential of new diagnostic tests or treatments as they are discovered and to see how effective they could be for people at higher risk of certain diseases. This will also mean Our Future Health can facilitate research addressing important questions about the potential uses of genetic risk scores in health care. Our Future Health expects genetic data to become available from mid-2022 and is now seeking to engage market providers of bioinformatics services to define requirements and capabilities relating to: A scalable pipeline for genotyping data management, including individual, variant and batch quality control, and basic ancestry and relatedness analysis - Robust and scalable imputation of additional variants using UK-wide reference panels with diverse ancestry - Calculation of genetic risk scores (polygenic risk scores) - Risk communication tools suitable for delivery of genetic risk score results to participants - Genetic counselling or educational or other services suitable to support participants' informed decision-making regarding genetic information - Calculation and presentation of genetic ancestry Our Future Health are reviewing potential lot structures for this procurement and will be seeking feedback during the market engagement process. Additional information: Providers in this market are invited to express interest in this procurement activity by email to ourfuturehealth@akesoco.com by Wednesday 1st December 2021. On receipt of expression of interest, providers will be asked to respond to a short questionnaire to gather information on optimal solutions for the service in advance of being invited to a briefing session on 8th December at 15:00-16:00 GMT, to describe the requirement and expectation of the service of the market in more detail.