Our policy on molecular diagnostics

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The growing field of precision medicine allows cancer patients’ treatment to be guided by analysis of their DNA or tumours at a molecular or genetic level. The field of molecular diagnostics encompasses genetics, pharmacogenomics, infectious disease and oncology. Molecular diagnostics can be used for detection, diagnosis and prognosis predictions, in addition to informing decisions around treatment and detecting recurrence or relapse. Cancer Research UK is leading the way in this field of research through our Stratified Medicine Programme.  

Drugs which can “target” cancer cells based on the variations found in those cells can offer patients better outcomes and reduced side-effects. This is also sometimes referred to as “stratified”, “personalised”, or “targeted” medicine. 

The NHS must be ready to make these drugs available to patients once they are licensed and approved, so that people affected by cancer can benefit quickly. This means it’s vital patients also have swift and equitable access to molecular diagnostic tests across the UK. Molecular diagnostic tests are used to determine whether a patient will benefit from a particular targeted drug for their cancer. 

Cancer Research UK has previously found significant variation in patient access to these tests across the country. In 2014, around 16,000 eligible patients with non-small cell lung cancer and colorectal cancer in England missed out on molecular diagnostic tests, and therefore exploration of all possible treatment options. Of these patients, 3,500 could have benefitted from a ‘targeted’ medicine. It is essential that the right infrastructure, workforce and equipment are in place as the applications of molecular diagnostics continue to expand.

In September 2020, the UK Government introduced the Genome UK strategy with the vision to solidify the UK’s position as a world-leader in discovery and translational genomic research, and offer patients in the UK world-leading genomic healthcare. Genome UK have developed shared commitments for UK-wide implementation for 2022 to 2025, but each nation of the UK will have their own strategy and implementation plans. 

The Department of Health and Social Care has published a Genomics implementation plan for England from 2022-2025, with a strong aim to accelerate innovative genomic medicine within the NHS. This follows the introduction of the NHS Genomics Medicines Service in England in 2018 and the discussion of genomics in the NHS Long Term Plan (2019) as an area for innovation investment. In 2023, England has a national genomic laboratory network made up of seven Genomics Laboratory Hubs. 

In Wales, there is one Genomics Laboratory Hub and the All-Wales Medical Genomic Service delivers diagnostic testing aligned with the NHS England National Genomic Test Directory. The Welsh Government have published a Genomics implementation plan for Wales from 2022-2025, and have a precision medicine strategy, published in 2017. The Genomics Delivery Plan for Wales sets out a person-centred, joined-up approach to genomics, using genomic data to enable new ways of delivering services and create new opportunities for public health action.  

Both Scotland and Northern Ireland benefit from Genome UK’s shared commitments. In Scotland, a genomic strategy was published in March 2023, with an implementation plan expected late-2023. The strategy expresses the intent of providing a genomics service and infrastructure that is population-based, person-centred and equitable across Scotland. 

In March 2022, Northern Ireland’s Health Minister announced commitments to Genome UK and plans to establish a Genomics Partnership for Northern Ireland. This plan brings together delivery partners from across government and Health and Social Care, public health, industry, research and academia, to deliver an integrated genomics service for the nation. However, implementation of these plans may be delayed until the Northern Ireland Executive is restored as budget allocation cannot be confirmed.  

We have welcomed the introduction of Genome UK and we are closely monitoring its impact and operation. We are continuing to monitor how each nation of the UK is progressing with genomics, as we believe all patients deserve equitable access to new medicines and research advancements. 

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