Mobile Menu

An Update on Genomics in the NHS by Dame Sue Hill

First up on our agenda at the Festival of Genomics & Biodata was an insightful talk exploring the recent developments in Genomics in the NHS by Chief Scientific Officer, Professor Dame Sue Hill.

Throughout the pandemic, viral sequencing has been vital for combatting the spread of the coronavirus. This sequencing data has been used to uncover trends in infection, transmission and mutation. By bringing together academic partners across the UK to contribute to national research projects, the NHS now has access to a unique dataset which will support public health action for current and future pandemics.

To date, over 200,000 SARS-CoV-2 genomes have been generated, over 45% of the global total. This wouldn’t have been possible without the NHS supporting global citizenship and promoting open science.


This year, the COG-UK Consortium were able to identify >1,500 introductions of SARS-CoV-2 during the first wave. Their data has also been used to track transmission, and importantly, the rise of new variants within the population. In the future, it is hoped that these practices will continue and eventually become standard procedure for pathogenic genomic responses.


Alongside COG-UK, there have been associated studies, such as GenOMICC. This study focused on severely ill and mildly affected patients, and sequenced both the host and viral genomes. They then compared this genomic data to existing genomes held by the UK biobank and other facilities. Seven significant genome-wide loci have been identified, with three potential therapeutic targets highlighted. The hope is that these studies will explain why some people have such harsh reactions to the virus and how to combat this.

NHS Genomic Medicine Service

Last year, the government published the Genome UK strategy which aimed to create the most advanced genomic program in the world. The key pillars of the program included diagnosis and personalised medicine, prevention and also research – with a strong focus on engagement with patients and healthcare workers.

One main aim is to sequence 500,000 whole genomes as part of routine care by 2023/24. Over the last year, the NHS Genomic Medicine Service (GMS) has been transformed. It will soon deliver the full breadth of genomic testing (from WGS to WES), predictive uses and targeted testing.

The GMS aims to continue working at the cutting edge of science. For example, they are entering a new partnership with GRAIL, striving towards the early identification of cancer. They aim to pilot new technology which can be used to detect cancer much earlier on.

Future Plans

Over the next year, the aim is to explore new and exciting opportunities, such as long read sequencing and functional genomics with a specific focus on cancer and rare diseases. The GMS will be working with the UK biobank on sequencing outputs, pharmacogenomic testing and implementing multi-gene NGS panels. With the development of education and training plans, the goal is to form a multi-professional workforce.

By driving personalised medicine optimisation, the main goal is to achieve more equitable access to healthcare and better outcomes for patients. Here’s to another year of bringing genomics and medicine more closely together!

Registration for on-demand access to watch this talk and all our other talks from the Festival will end on February 12th. Register now.