Genome UK: making the genomic dream a reality

The government has set out its vision for how the UK will harness the power and potential of genomics for the benefit of patients. Here are the top highlights

On 26 September, the UK Department of Health and Social Care released the National Genomic Healthcare Strategy in a new report, Genome UK: the future of healthcare.

The document was commissioned by the National Genomics Board (NGB) which was itself set up to bring about the vision laid out in the Chief Medical Officer’s 2016 report, Generation Genome, and the genomics elements of the Life Sciences Sector Deal.

The 10-year strategy aims to “create the most advanced genomic healthcare system in the world, underpinned by the latest scientific advances, to deliver better health outcomes at lower cost”.

The report envisages that the NHS Genomics Medicine Service, Genomics England, the Accelerating Detection of Disease (ADD) challenge; and the research resources UK Biobank and NIHR BioResource will all have parts to play in delivering these outcomes.

NHS England chief scientific officer Professor Dame Sue Hill said: “The NHS will play a key role in delivering the ambitious vision set out in the National Genomics Healthcare Strategy through the NHS Genomic Medicine Service (GMS).

“The seven GMS Alliances across England will ensure cutting-edge genomics drive improvements in prevention, diagnosis and treatment and deliver faster and improved outcomes for patients. Clinical care will be aligned to enable the broader data and research ambitions to realise the full potential of the NHS and this new strategy allows the UK to continue to be a world-leader in genomics.”

Core pillars

The report sets out three ‘pillars’ of the strategy:

  1. Diagnosis and personalised medicine: This will be delivered by the NHS and Genomics England, and includes incorporating genomics into mainstream healthcare through the NHS Genomic Medicine Service plan to offer whole genome sequencing as part of routine care. It also incorporates plans to use pharmacogenomic testing to ensure patients are prescribed the safest and most effective therapies, and a multidisciplinary approach to cancer treatment.
  2. Prevention: This will be delivered by the ADD challenge, and will include using screening to identify patients at increased disease risk, as well as testing family members of cancer patients to see if they have elevated cancer risk. This pillar will also include consideration of expanding screening early in life, including opening public discussion around the ethics of implementing genomic screening of newborns.
  3. Research: This will be delivered by UK Biobank and NIHR BioResource and is mostly centred around data, in terms of responsible use of patient data but also having appropriate infrastructure to make the best quality data available for research and to remove barriers between the clinic and the lab. There is also a commitment to diversify genomic datasets and address the current bias towards people of European ancestry in these datasets, which can result in less accurate predictions for BAME people.

Key themes

The report also describes five ‘cross-cutting themes’:

  1. Engagement and dialogue with the public, patients and healthcare workforce: The report acknowledges that patient and public understanding are necessary for the success of the endeavours and that engagement is necessary to build understanding and trust.
  2. Maintaining trust: Protecting patient data by having strong ethical frameworks and regulation in place is vital, backed up by excellent data security and robust infrastructure.
  3. Delivering nationally co-ordinated approaches to data: As well as keeping patient data safe, it needs to be accessible to healthcare professionals and researchers so everyone can benefit.
  4. Workforce development and engagement with genomics: Providing training and resources to enable healthcare professionals to understand and communicate about genomics, including bioinformatics.
  5. Supporting industrial growth: Encouraging UK-based research and development.

The release of Genome UK is an important step forward in bringing the power and potential of genomics to benefit patients and their families. To find out more about the 10-year strategy, you can read the full report here.