Genomics pioneers on the edge of a new frontier

As the Frontline Festival of Genomics brings together experts and thought leaders to London, the Chief Scientific Officer for England, Professor Sue Hill, highlights the crucial role the NHS is playing in forging a new path for personalised medicine:

A new path for the NHS is opening up.

Thanks to advances in Whole Genome Sequencing and data analytics, scientists and clinicians are exploring new ways of identifying the underlying cause of disease to deliver more precise, targeted diagnoses and treatments.

Thirteen NHS Genomic Medicine Centres (GMCs) across England are working with patients and participants in the 100,000 Genomes Project to lay the foundations for a personalised medicine service across the NHS.

The first 11 centres started recruiting patients with rare diseases early in 2015. One year on, and with two new centres joining their ranks, the infrastructure is now in place to start the main programme recruiting cancer patients.

This new phase in the Project has seen scientists and clinicians devising, developing and testing new approaches tumour tissue handling, preparation and assessment methodology – setting global standards for tumour DNA extraction, whole genome sequencing and its analysis.

More importantly, these new ways of working will deliver higher quality samples and faster, more accurate results for NHS patients.

Life Sciences Minister, George Freeman, has described the 100,000 Genomes Project as the UK’s ‘Moonshot moment’ – where the skill, endeavour and technological brilliance of the nation led the race to produce an outcome that leads the world’s thinking.

With the active participation of NHS patients,  clinicians, scientists and researchers involved in the 100,000 Genomes Project, we are on our way to deliver more predictive and preventive medicine; more precise diagnoses; targeted and personalised interventions.

Our patient pioneers include:

  • Mary, Kerry and Sandra – three sisters diagnosed with breast cancer within 13 months of each other – are hoping to find out if other family members could be at risk of breast cancer. East of England NHS Genomic Medicine Centre (Leicester)
  • Jessica and Georgia’s families are looking for answers to their daughter’ conditions. Clinicians from Great Ormond Street Hospital (GOSH) are able to give them a molecular diagnosis, setting them free to make decisions about the treatment options for their child and how they move forward with future plans for their family. North Thames NHS Genomic Medicine Centre
  • Biology teacher Helen Cawthorne, diagnosed with a rare heart condition, wants to help unlock new interventions or tests and thus help other with conditions similar to her own. East of England NHS Genomic Medicine Centre (Nottingham)

The foundations for a personalised medicine service across the NHS are being delivered by 13 NHS Genomic Medicine Centres to support and deliver the 100,000 Genomes Project. Eleven Centres were launched in December 2014, with two more established in December 2015.

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.