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Genomics England Update

On Friday 30th June, Genomics England published the following update:

This week, we are very happy to announce that we have begun the GeCIP early onboarding phase of the 100,000 Genomes Project.   Throughout the first half of 2017 we have been concentrating our efforts on developing and improving the Genomics England Research Environment - a datacentre that is aimed to facilitate collaborative research within a secure environment whilst protecting the privacy of participants enrolled in the Project. Advancement of this datacentre, effectively designed to be a ‘lending library’, alongside the need to develop and deliver an automated pipeline that handles clinical and genomic data for use by the clinical community continues to be one of the key priorities for Genomics England.   In addition to ensuring that the 100,000 Genomes Project data is supported by our systems, we have been working with the Genomics England Clinical Interpretation Partnership (GeCIP) research community and the academic institutions to make sure that GeCIP members fulfil the necessary requirements for access to the Project’s dataset. These consist of a two-step process: (1) approval by the Access Review Committee (ARC) given for each of the inaugurated GeCIP domains; (2) signed Participation Agreement by the academic institutions housing the respective GeCIP members.   To date we have successfully approved and verified over 40% of our membership base totalling over 2600 researchers worldwide. Detailed numbers are presented in the infographic below.

We have invited a total of 34 researchers from three GeCIP domains (Neurology, Colorectal Cancer and Quantitative Methods, Machine Learning and Functional Genomics - the first to have gained ARC approval for data access) to conduct research within the Genomics England Research Environment.   The early onboarding dataset consists of a small subset of the Main Programme data from Cancer and Rare Disease. These GeCIP members will be working with the Genomics England’s team in testing the research environment by conducting research within the datacentre. Over the course of roughly two months, the early onboarders will be feeding back their user experience and informing us of any necessary improvements to the system.

The ultimate goal of this activity is to assure that the environment is fit to sustain research at scale in preparation for next stages of GeCIP onboarding. This process will be dictated by order of domain ARC-approval and the availability of relevant data within the research environment. The data set will include genomic and primary clinical data alongside a wealth of secondary longitudinal datasets such as Hospital Episode Statistics, and we hope GeCIP researchers’ work on this data will further drive clinical interpretation. Moreover, we hope that it will also incentivise the GeCIP community to help drive recruitment, ensuring that the 100,000 Genomes Project supports representation of a broad range of disorders across rare diseases and cancers and provides equitable access to whole genome sequencing for all.   We will keep you informed of developments as we progress through this new and exciting phase of the Project. As always, we would like to express our gratitude for your continued support of the 100,000 Genomes project. We look forward to working with the GeCIP community in the months to come as we onboard more researchers to the Genomics England Research Environment.

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