Delivering the Genomic Dream

Ahead of her appearance at Expo 2017, the Chief Scientific Officer for England outlines the exciting work she is leading on Genomics across the NHS.

The recently-published Chief Medical Officer’s Annual Report ‘Generation Genome’ provided a comprehensive focus on the potential of genomic technologies to transform the lives of patients.

It provides an important addition to the growing focus on genomic technologies as part of a modern healthcare system.

The Chief Medical Officer report recognised the NHS is already a global leader in genomic medicine, and the journey to making the Genomic Dream a reality for NHS patients is already well underway. This has all been made possible because of the willingness and enthusiasm of patients and their families to engage with and contribute to this field.

Genomics has strong foundations within the NHS stretching back to the 1960s, when the first genetic laboratories and services were set up. The strong relationships between health and our academic community have deep roots and the UK has been recognised for its pioneering work in these technologies for many years.

This country was the single biggest contributor to the Human Genome Project, the ground-breaking work that finally cracked all 3.3 million letters of the human DNA code.

The technology has moved on so quickly that – while the first genome cost £2.3billion and took an international team 13 years – it’s now possible to sequence a human genome on a desktop machine for less than $1000 in a little over 24 hours.

The NHS is now harnessing these technologies to take genomic medicine on the next huge step forwards by building on the progress being made through the 100,000 Genomes Project. The Project is providing the ‘proof of principle’ needed for mainstreaming whole genome sequencing and associated technologies across our health system.

Our NHS Genomic Medicine Centres that were established to support the Project are recruiting and consenting patients; providing DNA samples from both blood and cancer tissue and clinical information for analysis; establishing mechanisms for validating results; and working with clinical staff to broaden the use of genomics across clinical specialities.

This is the single biggest science-driven transformation the NHS has seen in its lifetime and, through close working with partners, the scale and pace of the change that has been achieved to date is remarkable.

The mission now is for the NHS to continue to build on its leading position and deliver the ‘Genomic Dream’ at scale and pace. NHS England is working in partnership with Genomics England to create the future infrastructure, in particular to:

  • Create a national network of genomic laboratories for rare disease, cancer and other conditions, working to clear common standards and protocols.
  • Develop a uniform genomic testing directory to direct the commissioning system from single genes up to the level of whole-genome sequencing (WGS) and across the functional genomic pathway. This will inform which tests should be superseded and replaced by new technology.
  • Work with NHS Genomic Medicine Centres to further transform pathways of care and create the multi-disciplinary teams and cross professional infrastructure that will be critical for the future. This will allow clinical teams to deliver personalised treatments and interventions to improve outcomes for patients and service efficiency.
  • Engage in a broader public dialogue to ensure that patients and the public are confident in the use of genomic technologies.

Alongside this, the Health Education England Genomics Education Programme is supporting the development and upskilling of the healthcare workforce. But we know there is still more to do to ensure everyone working in the NHS has the appropriate skills and competencies to harness the power of these technologies for the future of healthcare.

This is a really exciting time for all of us working in this fast-moving area, which has so much potential to transform patient outcomes and experience.

I will be continuing to work with colleagues across national organisations, local services, clinicians and patients over the coming months and years as we work together to turn the Genomic Dream into an everyday reality for NHS patients across services up and down the country.

Chief Scientific Officer Professor Sue Hill will be speaking at ‘What does consent mean for Generation Genome’ at the Health and Care Innovation Expo 2017 in Manchester on Sept 11. For more information go to the Progress Educational Trust website.

She will also lead the Expo Theatre session ‘Value driven healthcare in the NHS: the application of personalised treatments and interventions’ with Chief Pharmaceutical Officer Keith Ridge.

Sue Hill

Professor Dame Sue Hill DBE FMedSci FRSB FRCP(Hon) FRCPath (Hon) FHCS (Hon) is the Chief Scientific Officer (CSO) for England and a respiratory scientist by background.

Throughout her career she has led on large-scale priority programmes across government and in NHS England including as the senior responsible officer for Genomics in the NHS, introducing a world-leading and nationwide Genomic Medicine Service, building on her work in heading up the NHS contribution to the 100,000 Genomes Project.

She has also played a pivotal role in the national COVID-19 programme leading the development and deployment of testing technologies into use for the UK population and co-directing the whole-genome sequencing of SARS-CoV-2 programme.

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