At the Festival of Genomics and Biodata, we are lucky enough to be joined by some of the biggest names in the business. In January, we sat down with a few of our esteemed speakers to chat about their backgrounds, roles and the work of their organisations. In this interview, we speak with Matt Brown (CSO, Genomics England) about the implementation of genomic medicine in the NHS, the value of collaboration and what he loves about the Festival of Genomics and Biodata.
Please note transcript has been edited for brevity and clarity.
Interview originally conducted by Miyako Rogers.
FLG: Thank you for speaking at the Festival of Genomics and Biodata! To start off, please could you tell us a little about yourself and your background?
Matt: My name is Matt Brown. I’m the Chief Scientific Officer of Genomics England. I also work in the NHS. I’m an active clinician at Guy’s Hospital and I run a research programme at King’s College London. So I’ve been involved in genomics research and clinical medicine for about 30 years, I trained initially as a physician and as a rheumatologist. But I’ve spent most of the last 30 years working on genetics, initially of common rheumatic diseases, in particular, a disease called ankylosing spondylitis, and then increasingly, using modern genetics for rare disease and cancer research and clinical practice.
FLG: Thank you so much. Could you discuss your role as CSO of Genomics England?
Matt: My role of Chief Scientific Officer relates to the role of Genomics England, which is all about the development and validation of modern genomics approaches – be that technological approaches, clinical applications or analytic approaches for clinical practice, particularly within the NHS. So Genomics England, unlike most other biobanks, actually operates within a real world healthcare setting, predominantly providing services to the NHS, and building research alongside that, and also to support development of the NHS’s clinical genomics and cancer genomics programmes. From there, we have actually built a huge research programme that expands well beyond clinical implementation-type research, across a whole range of areas from basic disease-based research, functional genomics, through ethics, socialogic aspects of genomics, through to clinical translation, and even supporting drug development programmes.
FLG: Can you discuss the impact of the 100,000 Genomes Project?
Matt: I was actually based in Australia when the 100,000 Genomes Project was announced. And I have to say, I think, certainly, the local community in Australia and a lot of people outside of the UK, were quite skeptical that the 100,000 Genomes Project would actually succeed. But actually, what it did do, in the fact that it did succeed, was that it underpinned the case for comprehensive genomic services in both rare disease and cancer around the world. It had a really big impact in the UK, which was obvious from the establishment of the Genomic Medical Service, literally on the basis of the experience of the 100,000 Genomes Project. But I don’t think people appreciate quite enough what a global impact that actually had, and how it’s actually really driven expansion of genomics out of the research base and into clinical practice, around the world.
FLG: So, can you tell us about the development and implementation of genomic medicine in the NHS and how this relates to the work of Genomics England?
Matt: Now we have a Genomic Medical Service within the NHS, and we have whole genome sequencing, available free of charge to NHS patients for, I think, 32 rare disease conditions at the moment. And then a range of cancers, roughly 15% of all cancers, now have whole genome sequencing available as a routine test. What we’re doing is working with the NHS about both improving how we perform on those particular services, but also validating the use or assessing the utility of whole genome sequencing in a much wider range of rare diseases and cancers. We are looking at how you can combine whole genome sequencing with other types of ‘omics approaches like transcriptomics, proteomics, metabolomics, and imaging, to see how we can do much better in terms of increasing the diagnostic rate for rare disease patients, and increasing the proportion of cancer patients where we can actually give them a genomics-informed, personalised care therapeutic programme, which will have the best chance of helping their cancers and minimising the chances of side effects.
FLG: And what about the role of large-scale genomic data, ‘big data’?
Matt: Genomics is big data par excellence. Currently the National Genomics Research Library, which is the database that Genomics England established, brings together whole genome sequence data, and also all of the linked clinical data going forward from all of our participants. It contains 85 petabytes of data, which is significantly more than even, for example, the CERN physics reactor in Switzerland and is currently by far the world’s biggest public health database. So the size and the richness of that data sort of answers your question and poses lots of challenges to the analytic community about how can we actually make the best use of the volume and diversity of that data. Inevitably, that’s going to be through AI based approaches, which is something we’re really trying to support through our current multimodal initiatives.
FLG: So you spoke a little about AI. What role does this play for Genomics England and how do partnerships facilitate this?
Matt: So Genomics England does some research itself, but largely it outsources its research. And so what we do is we create resources and capabilities that then the global research community can use to advance these questions. So we have a really big programme partnering with Nvidia and AWS on the compute side, with academic organisations like King’s College London and University of Leeds on the academic side, with commercial AI groups and other groups, where we are establishing both a database of clinical data genome sequence, pathology data and radiology data, which we want the global research community to use. And we think that’s going to be transformational in understanding pathogenesis of disease, but more importantly, coming up with better precision medicine approaches for cancer in an increased ability to diagnose rare diseases ultimately.
FLG: Can you tell us more about how partners and collaborators contribute to the project?
Matt: One of the really smart things that was done early on in Genomics England’s course was that the organisation reached out to the clinical and academic community, I guess, particularly in the UK, but also globally, to ensure that they partnered with us both in our clinical service delivery and in our research. So we have our Genomics England Clinical Implementation Partnerships, which are basically partnerships between Genomics England and academic researchers, and our discovery forum with commercial researchers. And after passing through various access processes, these groups can get access to all of that clinical data and genomics data in our National Genomics Research Library. And that has led to absolutely massive discoveries, both at an individual level for patients, but also more generally about the field of genomics and associated areas.
FLG: One last question before we discuss the Festival of Genomics and Biodata. Could you discuss any of the ethical considerations regarding the use of genomic data in healthcare?
Matt: I think ethics in genomics is obviously a very fraught and sensitive area. Genomics England has been really careful, setting ourselves a high standard of practice to make sure that what we do is really unimpeachable. And also to have really active engagement with our patient participants and their families to ensure that what we’re doing is something not only that they’re on board with the direction that we’re taking, but also that they can help guide us about the areas that they feel are important for us to hit. That’s really integral to Genomics England, I think Genomics England is one of the global opinion leaders in bringing patient participants on board for that. So it’s an area we’re really careful about and take really seriously. One of the things also that we’ve led on is the development of so-called trusted research environments, where instead of lending out data to researchers, where you essentially have no control over how that data subsequently gets used. Instead we make researchers work within our own computational environment so that there is a very tightly regulated access approach and also tight regulation about what data can be then taken out of the research environment to ensure that nothing happens that isn’t within our patient consent and are things that our patients would actually approve of.
FLG: And finally, could you tell us why you came to the Festival and what you’re most excited about?
Matt: The Festival of Genomics has become a must-not-miss event in the UK calendar. It’s an amazing event bringing together a whole range of the genetics community. And it’s exciting, different from just straight academic conferences, and one in which I find great value in learning about new things. But also, now that we’re doing this face-to-face, actually being able to get together with all of my colleagues and have those sorts of in-person discussions that you get so much more value from. So I think it’s become a really outstanding event that I really look forward to in the calendar each year.