Genome UK - England's 2022 to 2025 Implementation Plan Published

Starting in 2020, the broad pillars forming the basis of the strategy were the development and improved access of the following:

• Diagnosis and Personalised Medicine
• Prevention and Early Detection
• Research and Data

In December 2022, the Department for Health and Social Care and the Department for Business, Energy & Industrial Strategy published their implementation plan for England's adoption of Genome UK up to 2025, in addition to the metrics on which performance towards the commitments made in the original strategy would be measured.

What to Expect Over the Next Three Years

The implementation plan lays out the Government's proposal to build on the work already done over the past 18 months. Many of these topics have been discussed by speakers at recent PING Conferences. Signposting some of the key initiatives under their relevant pillars:

Diagnosis and Personalised Medicine

• Genomics England has been set the task of improving the speed and accuracy of cancer patients in its Cancer 2.0 project. This is a £26 million innovative cancer programme to evaluate cutting-edge genomic sequencing technology. To facilitate this, the genomes of cancer patients are being paired with images of their cancers, enabling AI to be developed that can assist in speeding up diagnoses.
• The NHS Genomic Medicine Service is to update the directory of when genomic screening is permitted, so that it is available for all patients who would gain clinical benefit from it.

Prevention and Early Detection

• Genomics England is researching the effectiveness of using whole genome sequencing for the detection of rare genetic diseases in new born babies (as covered in VWV's recent article).
• Our Future Health, in alliance with Genomics Plc, is looking to sequence the genomes of five million participants representative of the population and use this to provide them with polygenic risk scores (as reported here).

Research and Data

• Enhancing the data collected by Our Future Health, UK Biobank is to develop its research analysis platform in a secure and scalable way. It is thought this will be particularly useful for genome wide association studies, helping to identify genes responsible for certain diseases and characteristics. In addition to this, the 500,000 genomes held by UK Biobank are to be made available to approved researchers.
• Genomics England is to complete tailored genomic sequencing of 15,000 to 25,000 research participants from diverse ancestry groups. The intention is that this data should allow increased understanding of the effect of genomic diversity on health outcomes, help reduce inequalities and improve patient outcomes.
• NIHR Bioresource will develop its phenotyping of certain disease cohorts, including in relation to rare diseases. This will include increasing the diversity of existing cohorts, establishing a bioresource for young people and developing new approaches for public involvement.
• The MRC will provide up to £25 million in funding across four years for the furtherment of functional genomics.

From an industry perspective, if there is successful implementation of the initiatives, the sector will enjoy unparalleled access to a wide and representative database of genomic and health data. The objective is to drive innovation in this area and assist horizon scanning to direct research, identify causal links to diseases and provide tools to improve analysis of the data.

With such a reliance on members of the public to consent to the proposed uses of their data, time will tell whether the ambitious goals can be met and so feed the genomics sector.

The full implementation plan and metrics can be read on the Government's website.

If you have any thoughts about these exciting areas and the opportunities arising from them, please contact Jonathan Bywater in our Pharmaceuticals and Life Sciences team on 020 7665 0965, or complete the form below.