NHS Genomic Medicine Service

The role of NHS England is to enable the NHS to harness the power of genomic technology and science to improve the health of our population and deliver on the commitments in the NHS Long Term Plan:

  • To be the first national health care system to offer whole genome sequencing as part of routine care.
  • To sequence 500,000 whole genomes by 2023/24 and help transform healthcare for maximum patient benefit, including for all children with cancer or children who are seriously ill with a likely genetic disorder.
  • Extended access to molecular diagnostics and offer genomic testing routinely to all people with cancer.
  • Early detection and treatment of high-risk conditions including expanding genomic testing for Familial Hypocholesterolaemia.
  • Linking and correlating genomic data to help provide new treatments, diagnostic approaches and help patients make informed decisions about their care.

These commitments will be delivered on by the NHS Genomic Medicine Service for England which will provide:

  • Consistent and equitable care to for the country’s 55 million people.
  • Operate to common national standards, specifications and protocols.
  • Deliver a single national testing directory covering use of all technologies from single genes to whole genome sequencing.
  • Give all patients an opportunity to participate in research for their individual benefit but also to inform future care for other patients.
  • Build a national genomic knowledge base to provide real world data to inform academic and industry research and development.

The systematic application of genomic technologies has the potential to transform patient’s lives by:

  • enabling a quicker diagnosis for patients with a rare disease, rather than years of uncertainty, often referred to in rare disease as the ‘diagnostic odyssey’.
  • matching people to the most effective medications and interventions, reducing the likelihood of an adverse drug reaction.
  • increasing the number of people surviving cancer each year because of more accurate and early diagnosis and more effective use of therapies.

Workforce development

To help achieve this we are delivering three workforce development programmes covering nursing and midwifery, pharmacy and medical practitioners, with the support of Health Education England’s Genomics Education Programme.

You can find out more about this programme and the genomic resources available on their website.

Genomics Clinical Reference Group

The Genomics Clinical Reference Group (CRG) has been convened to support implementation of the NHS Genomic Medicine Service (GMS). Through its professional, patient and public representation, the Genomics CRG carries out the following functions:

  • Advise on clinical policy and strategy for genomics, including implementation of NHS Long Term Plan commitments and future development of the NHS GMS;
  • Oversee a clear and transparent process for annual review of the National Genomic Test Directory (supported by three test evaluation working groups covering rare and inherited disease, cancer and pharmacogenomics, see below);
  • Support activities to raise awareness and embedding of genomics across all clinical specialties; and
  • Advise on, review and develop guidance and service specifications (including the clinical genetics service specification)

If you would like to be involved with the CRG and help shape policies and the approach taken by the NHS Genomic Medicine Service then you can sign-up and become a stakeholder.

Working with communities and patient groups

People and communities are at the heart of what we do, and there are many ways that members of the public and people with lived experience of genomics can get involved in our work, helping shape the development of services and improve patient experience. These including applying for a position on one of the groups and forums that set our strategy and policy, responding to consultations on changes to services, helping co-produce patient information or sharing your story through the media. Opportunities to get involved are advertised on the Involvement Hub and you can also contact the communications and engagement team in the Genomics Unit.