The first ever NHS genomics strategy was unveiled this week at a Genomics summit in London, where Amanda Pritchard described it as “the next big step in healthcare in the NHS and the journey to realise the potential of genomics for our patients, our communities and the population we serve”.
Over the next five years, the NHS will push the boundaries to improve care and treatment options for patients, developing shared clinical and access standards, data platforms and governance, and an interoperable informatics infrastructure.
As the NHS brings the benefits of genomics to patients and the population, it needs a comprehensive and ambitious national approach covering prevention, diagnosis and targeted treatments that enables patients, families and carers to participate in shared decision making.
This strategy sets out four priority areas to this approach:
- Embedding genomics across the NHS, through a world leading innovative service model from primary and community care through to specialist and tertiary care.
- Delivering equitable genomic testing for improved outcomes in cancer, rare, inherited and common diseases and in enabling precision medicine and reducing adverse drug reactions.
- Enabling genomics to be at the forefront of the data and digital revolution, ensuring genomic data can be interpreted and informed by other diagnostic and clinical data.
- Evolving the service through cutting-edge science, research and innovation to ensure that patients can benefit from rapid implementation of advances.
Genomic medicine can be used in population health to predict when individuals are at a high risk of developing certain conditions, such as cancer. It can identify individuals carrying certain genes and/or variants that are inherited and run in families. With the appropriate support in place, genomic medicine can empower individuals and family members to access interventions to either prevent the development of conditions, treat the condition, or manage their individual risk to prevent more serious health impacts.
In both cancer and rare disease, a genomically-informed diagnosis can provide access to precision medicines early in the patient journey or enable entry into clinical trials.
To realise the potential of genomics in healthcare, in 2018 NHS England established the NHS GMS, which created a step change in the use of genomics in clinical practice in the NHS. The NHS GMS built upon the existing NHS infrastructure and used learnings from the 100,000 Genomes Project. Importantly, it signalled a clear direction for the way in which cancer genomic testing would be funded and provided.
In the NHS Long Term Plan in 2019, NHS England set out that through the NHS GMS, the NHS would use whole genome sequencing as part of routine care, including for seriously ill children who are likely to have a rare genetic disorder, children with cancer, and adults suffering from certain rare conditions or specific cancers. It also committed to extending the use of molecular diagnostics and routinely offering genomic testing to all people with cancer for whom it would be of clinical benefit; expanding access to genetic testing for familial hypercholesterolaemia; and delivering commitments around research and innovation.