Genomics lab

Delivering the genomic dream

Ahead of her appearance at Expo 2017, Chief Scientific Officer Sue Hill outlines the exciting work she is leading on genomics across the NHS

The Chief Medical Officer’s latest annual report ‘Generation Genome’ provided a comprehensive overview of the potential for genomic technologies to transform the lives of patients as these technologies become an integral part of a modern healthcare system, writes Professor Sue Hill.

Professor Dame Sally Davies’ report recognised that 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 under way. This has been made possible because of the willingness and enthusiasm of patients and their families to engage with and contribute to this field.

Transforming healthcare

Genomics has deep foundations within the NHS stretching back to the 1960s, when the first genetic laboratories and services were set up. 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 £2.3bn and took an international team 13 years – it’s now possible to sequence a human genome on a desktop machine for less than $1,000 in a little over 24 hours.

The NHS is now harnessing new technologies to take genomic medicine forward, building on the progress being made through the 100,000 Genomes Project. This pioneering 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; processing DNA samples for analysis; establishing mechanisms for validating results; and working 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 the scale and pace of change that has been achieved to date is remarkable.

The future

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.
  • 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.
  • 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 upskilling and development 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 new technologies.

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.

Sue will be speaking at ‘What does consent mean for Generation Genome’ at the next PET event in Manchester on Monday 11th September. She will also lead an Expo Theatre session: ‘Value driven healthcare in the NHS: the application of personalised treatments and interventions’ with Chief Pharmaceutical Officer Dr Keith Ridge. This article originally appeared in full on the NHS England website.

Please note: This article is for informational or educational purposes, and does not substitute professional medical advice.