The Festival of Genomics and Biodata returned with a bang at the London Business Design Centre on Tuesday the 25th and 26th of January and the word of the day was “data” – how to use it safely, its potential to revolutionise the use of genomics in healthcare, public attitudes towards data privacy, and the importance of communication in its use.

Professor Andrew Morris of Health Data Research UK (HDRUK) said that building trust in data management is key to shifting the public’s mindset away from the idea that data is private, to viewing it as “an underpinning infrastructure built to support patient care, population health, and planning.” Access to data by clinicians and researchers asking the right questions is extremely beneficial, and we need an open and honest dialogue with the public about these benefits by incorporating public engagement and behavioural science into each step of the process. Researchers have a duty of care when it comes to managing people’s data and there need to be safeguards in place to build the trust required for public acceptance of data use.

These comments were made in discussion with Nicola Perrin, CEO of the Association of Medical Research Charities (AMRC), and Rolf Apweiler, Director of EMBL-EBI, while talking about the lessons learned from the COVID-19 pandemic from a data perspective. Rolf added that there needs to be a cultural change in the interplay between research and healthcare. “The flow of information between research and the clinic has been a one-way street until now, but we need to move towards using the data collected in hospitals as secondary data for research.”

However, an attitudinal shift like this will take time. Clinicians are already stretched and asking them to record and input data while treating patients will only stretch them further. Communicating the importance and benefits of this symbiosis will be a process and will require political support to build and maintain the interface between the clinic and research.

This interface between the clinic and research was another hot topic of the day and was discussed in the context of Next Generation Sequencing (NGS) and genomic data between Professor Serena Nik Zainal of the University of Cambridge, Professor Matt Brown of Genomics England, and Sian Morgan, Head of the All Wales Genetics Laboratory. With the recent announcement of Illumina’s NovaSeqX sequencing platform, the experts were asked to predict the impact the $200 genome will have on the use of genomics in clinical settings.

“Right now, we are rationing genomics due to cost”, said Matt Brown. The implementation of the $200 genome will enable a shift from targeted panels and whole exome sequencing to whole genome sequencing as the therapeutic standard. Introducing the data obtained from the $200 genome into healthcare databases will provide clinical and genomic data for drug development, disease pathogenesis research, and disease subtyping. It could potentially underpin biomedical research for decades.

The benefits of whole genome sequencing in cancer are coming to light, as shown by research carried out by Serena Nik Zainal at the University of Cambridge. “Whole genome sequencing allows access to the whole genome, not just the genes that have been a target for therapy. You can look at the whole story from structural variation to cancer evolution, and this could create an economy of cancer genomics around the world.”

Speaking from a clinical perspective, Sian Morgan said that genomics is currently used within the NHS at a treatment level, but this new technology could allow for its application in prevention and early intervention. Collaborations between healthcare and industry partners will be crucial in bringing this technology into the NHS.

Echoing the sentiments of the discussion about the use of data between Andrew Morris and Rolf Apweiler, the education of the workforce and the mindset shift required for the use of data in clinical settings were highlighted as pivotal to the implementation of NGS technology and genomics in healthcare. A more systematic approach is needed to achieve clinical validity of the results we are seeing from research, and there is still some way to go in gathering enough evidence to achieve translation from research to healthcare. Genomics England’s Newborn Genomes Programme is running in conjunction with the NHS to explore the feasibility of offering WGS to all newborns and the potential risks and benefits involved in storing an individual’s genome data for life. This will be very important in delivering the evidence required to push through treatment barriers currently preventing the widespread use of whole genome data in healthcare.

Serena Nik Zainal remarked that it could take the next decade to see this mindset shift. “We need to empower the workforce to use genomics data to discover individual mutations and get the right drug to the right patient at the right time. When this becomes a standard part of the process and an imperceptible part of patient care, that will be a revolution.”

The idea that clinical data can be an invaluable secondary source of data for researchers is being put in to practice by the digitalisation of the 100,000 Genomes Project. A large project is underway to digitise as much clinical data as possible across England by the National Pathology Imaging Co-operative (NPIC), the UK’s largest programme in digital pathology and artificial intelligence. The aim is to provide a digital pathology record for every cancer patient within the NHS by the end of 2028, enable clinical use of this data, and implement the use of Artificial Intelligence (AI) in pathology. This is being done by scanning radiology and pathology images from NHS sites across the country to create an extensive library.

The rollout of this project in hospitals will involve scanning over 2.4 million images a year and generating over 4 petabytes of data. The decision was taken to store this data in the cloud, as it is scalable and expandable to accommodate the onboarding of additional sites. Initially, two networks will be digitalised – the Royal National Orthopaedic Hospital and Great Ormond Street Children’s Hospital. This work will facilitate clinical diagnosis, digital pathology, AI training and national clinical trials. For the participants of the 100, 000 Genomes Project, it will provide better analysis of data and tissue samples and a more targeted research approach using molecular testing to identify the underlying cause of diseases.

Novogene’s time at the Festival of Genomics was headlined by a Main Stage talk from Dr Dalia Rosano from Imperial College London on how the long-term multi-modal recording of dormant breast cancer cells reveals unpredictable non-genetic adaptation routes within them. This work was done in conjunction with Novogene’s RNA and whole genome sequencing services, and we were delighted to have the opportunity to sponsor Dr Rosano’s presentation. To find out more about the research presented, you can download this case study.

The Festival came to a close with a tired, but hope filled Novogene entourage for the future of the genomics industry. When genomics started out, it was a purely research-focused industry but the transition of its technology into the clinic is accelerating with great promise. The leaps and bounds made within the genomics industry have predominantly been made within the last decade, and the current pace of technology development is unprecedented.

We are excited to be a part of such a ground-breaking industry and are looking forward to what is to come in the very near future.