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Genomics England - 100k Genome Project 1 Overview

Political Intelligence attended Genomics England's first stakeholder engagement programme on 3rd October 2013. The event involved brief introductions and interactions with the audience discussing the Government funded project's challenge of sequence the personal DNA code of up to 100,000 patients over the next five years. It is hoped that this knowledge will help doctors understanding, leading to better and earlier diagnosis and personalised care. But the project will test the practical challenges of integrating and safeguarding genomic data within an expansive health service.

Introduction
The project will begin with pilot projects tackling cancer, rare diseases and infectious diseases. There was some interesting discussion about how the centralised DNA database will operate whilst addressing issues of data protection and privacy. It was stated that there will be a firewall that ensured all data remained within the NHS and Genomics England will govern access. The plan is to link the data to NHS electronic health records.

Common Cancers pilot project


This report suggests that to make the most of NHS based genome sequencing, the patients own genome should be included, and at least one or two additional samples from patients cancers, separated in either space or overtime during the course of the disease. Whilst all cancer sites would benefit from genome sequencing, areas of prime importance are: lung cancer, paediatric cancers (solid and haematological), other solid cancers, such as breast, colorectal and upper GI, cancers of unknown primary and new familial cancers/rare presentations.

Rare Inherited Diseases pilot project


This report suggests that genome sequencing will improve the quality of NHS diagnostic services and may reduce costs by avoiding step-wise testing. Patients will be carefully selected for whole genome sequencing based on the likelihood of making a genetic diagnosis and the associated clinical benefits. Data sharing of novel variants identified within the whole genome data, linked to phenotypic information, will enhance the interpretation of current and new NHS diagnostic tests. The high diagnostic yield for rare diseases will establish proof-of principle for an NHS-wide genomic data platform and yield immediate clinical benefits for many patients.
03 October 2013 Page 1