In her talk she discussed the strides being made to embed genomics into the NHS in England through the NHS Genomic Medicine Service, the power and potential of personalised medicine and how genomics is already having a positive impact on the lives of patients and their families.
Because of the COVID-19 pandemic the lecture was delivered online this to an international audience this year and participants had the chance to ask Dame Sue questions following the talk.
She began by honouring a trailblazer: Elizabeth Blackwell, who became the first woman to receive a medical degree in America and set-up the National Health Society, a precursor to today’s NHS. She went on to talk about securing a sustainable healthcare system in Dr Blackwell’s spirit.
Dame Sue highlighted the current challenges for healthcare systems (including affordability, ageing populations, equity of access, meeting individual’s needs) and the possible future directions healthcare systems can take - at one end, a focus on improvements to population health, at the other increasing personalisation and management approaches.
The World Health Organisation defines:
- Genetics as the study of heredity
- Genomics is defined as the study of genes in our DNA and their functions, and related techniques
Genomics encompasses the spectrum of testing, from single genes, to whole genome sequencing and will stretch beyond DNA. NHS genomics encompasses the full WHO definition – from single gene to WGS, from DNA to metabolomics.
There is huge potential for genomics and healthcare…
Genome UK Strategy
Genomics is driving transformation in healthcare in the UK. Over the next 10 years the Government’s ambition is to create the most advanced genomic healthcare system in the world, underpinned by the latest scientific advances, to deliver better health outcomes at lower cost. It will incorporate the latest genomics advances into routine healthcare to improve the diagnosis, stratification and treatment of illness.
It will, Dame Sue said, harness the power of health data to make the UK the best place in the world to access genomic data responsibly, ensuring equity of and diversity of access and using this to inform all parts of patient care.
But with all this data, it’s the outcomes that really matter. Dame Sue shared the story of Jessica, aged 4, who has a rare condition causing epilepsy and affecting movement and development. Thanks to Whole Genome Sequencing Jessica's clinician was able to recommend a diet for her which helped with her seizures.
Find out about the Genomics Engalnd 100,000 genomes project: a catalyst for change.
Dame Sue believes it is the interface with research that is driving clinical improvements. It’s important, she said, to make ‘the Loop’ work as an efficient, robust and scalable system. This will help:
- patients, as we enable dialogues on consent, diagnosis, prognosis and treatment
- healthcare teams, as we provide reliable genomic insights that are easy to request and interpret
- researchers, as we accelerate research by providing data, infrastructure, insights and environment to collaborate and accelerate fundamental and translational research.
Dame Sue explained personalising medicine and the end of the ‘one size fits all’ era. She set out the NHS vision for personalising medicine and stressed the importance of a focus on end-to-end pathways - a vision that Dr Blackwell held - from prevention and early diagnosis through to treatment and monitoring.
She finished by touching on the challenges to embedding genomics in mainstream care, including addressing the challenges of developing the workforce; retaining and building public trust; and the need to work within an ethical framework as we build a genomic future.
But it’s not just about future possibilities, genomics is helping us right now. It’s helping to improve our knowledge of SARS-CoV-2 and our response to this public health crisis. A COVID-19 Genomics UK (COG-UK) Consortium has been set up to generate scientific evidence to demonstrate where sequencing can bring benefit to public health, and to establish end-to-end SARS-CoV-2 sequencing and provide information in a relevant time frame to Public Health Teams for action.
Her closing remarks included a quote from Elizabeth Blackwell herself: “It’s not easy to be a pioneer – but oh, is it fascinating.” We’re sure you’ll all agree with that!
Professor Dame Sue Hill OBE PhD DSC CBiol FRSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England – providing expert clinical scientific advice across the health system and head of profession for the healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms.
Sue is the Senior Responsible Officer for Genomics in NHS England, leading developments in this area, having previously established the NHS Genomic Medicine Centres and led the NHS contribution to the 100,000 Genomes Project. She is a respiratory scientist by background with an international academic and clinical research reputation.
Watch the lecture
APL 2020 slides (Office document, 7,421kB)
APL 2020 transcript (PDF, 205kB)