Many factors affect how sick some people become with COVID-19, such as an existing medical condition or being overweight but scientific research suggests there maybe something else as well.  Over the last 18 months Genomics England has worked with the GenOMICC consortium and other partners, led by the University of Edinburgh, on a Genomic COVID-19 study that analysed the whole genome sequences of approximately 20,000 people who were severely affected by COVID-19 and hospitalised. By comparing these genomes with 15,000 other genomes from people who were mildly affected, differences are being identified that could help to create treatment and prevention solutions.  

This session explores this pioneering project and how it provided valuable insights into the fight against COVID-19 as well as its potential to support our response to future virus infections.

Together with the NHS and partners, Genomics England has been working to harness the power of genomic technology and science to improve the health of our population. The programme will be the world's first national health care programme to offer whole genome sequencing as part of routine care when it goes live and could enable life-changing results for rare disease and cancer patients offered the service. Genomics England and the NHS are seeking to sequence 500,000 whole genomes by 2023/24 through the service.

This session covers the latest project developments, as well as the key challenges and impact, both already achieved and planned for the future.

Recent advances in technology, and our understanding of genetics, presents an opportunity to explore the role genomics can play in expanding screening in early life. Whole genome sequencing (WGS) could significantly increase the diagnoses of genetic conditions, and would be particularly valuable if early detection reduces or avoids harm in early life or improves long term outcomes from genetic conditions. Genomics England is embarking on a new initiative to explore the potential for whole genome sequencing at birth through to genetic conditions and how it could enable research into diagnosis and new treatment.

 
This session describes Genomics England’s work with stakeholders and the public to understand the aspirations, concerns and considerations that need to be addressed and our future plans.

Since the launch of the 100,000 Genomes project, researchers and clinicians have partnered with Genomics England to collect and analyse genomic and longitudinal clinical data to gain insight into the nature of genomic changes that drive cancer evolution. This research is ultimately helping clinicians to deliver more personalised treatment programmes and researchers to be able understand disease drivers.    
In the next evolution of our cancer programme, we are introducing two disruptive technologies into the clinic and into research:  

Long Reads & Methylation: We will be evaluating the clinical and operational impacts of using Long-Read & Methylation sequencing for cancer patients. This new technology can reveal large scale rearrangements in tumour DNA, as well as epigenetic changes that can alter gene expression. The hope is that this new information will highlight new treatment and clinical trial opportunities for patients.  

Diagnostic imaging data: We will be enhancing our database in cancer by curating radiology and pathology digital images alongside the genomes of our ~15,000 solid tumour patients, making this the largest multimodal cancer dataset in the world.  We will be introducing AI/ML tools that will allow researchers to explore the integrative impact of spatial heterogeneity and regional variations that are associated with the tumour microenvironment, alongside the molecular features of the tumour, in predictive models of response to treatment or prognosis.  We anticipate that this resource will unlock new insights into mechanism of action in cancer and could lead to novel prognostic and diagnostic tools.  

Join us to learn more about our strategy to enhance our tools to characterise cancer and about our long-read sequencing and multimodal programmes.   

Genomics is driving a revolutionary shift in how we diagnose and treat patients.  As the cost of DNA sequencing reduces and the speed and scale increases so too does the opportunity for genomics to be incorporated into mainstream medicine.  However, human genetic research studies have largely focused on populations from European ancestries, contributing to a world where the benefits of genomic healthcare are not shared equally. This has resulted in misdiagnoses, poor understanding of conditions and inconsistent delivery of care, as well as mistrust amongst excluded communities on the collection and use of genetic data.   

This session brings together people from different fields and communities to share their perspectives on both the challenges and existing initiatives all working towards the common goal of ensuring that genomic medicine works for everyone; from the data science, to the community engagement and everything in between.