Genomics is positioned as a transformative force in healthcare, promoting a proactive and preventative approach. Ellen Thomas, Chief Medical Officer of Genomics England, tells us about key milestones so far and how genomics could shape future care delivery
There is growing urgency around the world to ensure that the healthcare system of the future works through a more predictive, preventative model. The UK is no exception, as demonstrated by the 10-year Health Plan for England. This plan focuses on three shifts: Moving care from hospitals to communities, making better use of technology, and focusing on preventing sickness, not just treating it.
Genomics has a key role to play across all three shifts and is driving more personalised and efficient care to shape better health. Over the past couple of decades, we’ve seen considerable growth in genomics’ capabilities. We’ve also seen the cost of sequencing a genome plummet over that same period. This has allowed genomics to become a valuable component of healthcare today for rare conditions and cancers, delivering enormous value.
Genomics England’s first initiative, the 100,000 Genomes Project, sequenced 100,000 genomes from around 85,000 NHS patients affected by rare conditions or cancer. It led to groundbreaking insights and findings into the role genomics can play in healthcare that continue to shape clinical practice today. The project led to a new diagnosis for thousands of rare condition participants, despite many having been on a ‘diagnostic odyssey’ for years using conventional testing, and found potentially actionable findings in around 50% of participants with cancer.
Importantly, it laid the foundations for whole genome sequencing to be implemented into routine care. The project’s success led to the NHS Genomic Medicine Service becoming the first place in the world to offer whole genome sequencing within a public healthcare system. Today, the NHS GMS, supported by Genomics England, has sequenced more than 100,000 further genomes, leading to new diagnoses, more tailored treatment, and improved outcomes for thousands of patients with rare conditions and cancer.
In addition to this important contribution to diagnostics, the role of genomics is also increasingly being researched in the population health setting. The Generation Study – led by Genomics England in partnership with NHS England – is a groundbreaking research study that is using whole genome sequencing to screen up to 100,000 newborns in England to identify, diagnose and treat more than 200 rare genetic conditions earlier. When completed, the study will generate valuable evidence around offering whole genome sequencing as part of screening for rare genetic conditions at birth.
It is achievements like these, sitting alongside other pioneering work in the space such as that of UK Biobank and Our Future Health, that have afforded the UK the status of a world-leader in genomics. But we now understand much more about genomics and its potential than ever before, and the technology grows more advanced by the day. This is supported by the rapid scaling of AI and Machine Learning, which lends itself well to the data-intensive nature of genomics.
Widening genomics’ benefits
Genomics is already playing an important role in healthcare and has the potential to increase its impact dramatically. By 2035, we anticipate half of all healthcare interactions will be informed by genomic insights, transforming patient care through the routine use and reuse of genomic data as part of everyday healthcare.
This cannot happen without first building the evidence base and digital infrastructure for large-scale implementation, which we at Genomics England will continue striving to do as the national data and evidence engine for genomics. But ultimately, we believe genomics’ everyday use is exactly the kind of work that could help the NHS to get ahead by preventing illness through more proactive care, helping people avoid hospital stays, reducing healthcare costs, and helping people live longer, healthier lives.
One example with great promise is pharmacogenomics – the study of how our genes affect the way we respond to medications – which is already becoming an increasingly important strand of personalised healthcare. How we respond to medications can be influenced by our genetics. Some people are prescribed a medication that doesn’t work as effectively for them because of certain genetic changes in their body. Others suffer serious side effects for the same reason. Adverse drug reactions have been estimated to cost the NHS over £2billion annually, demonstrating how important pharmacogenetic testing could be.
There is already some pharmacogenomic testing within the NHS in England, which is invaluable in preventing serious sickness. But if we could ultimately arrive at a point where it is used routinely, broadly and pre-emptively, generating information that could be relevant at various points in a person’s life, it would represent a huge leap forward in making medications safer and more effective.
Of course, for any genomic advance, the public must be partners and not passengers. That is why engagement has always been a key pillar of all that we do and will continue to be – so that public attitudes and expectations are not only clear but can be used to shape research for the better.
Shaping better health
It is an exciting time for the genomics industry in this country. We’ve achieved a lot to date, with the opportunity to build on the UK’s unique position as the place to discover, test, and, where proven, roll out innovative genomic technologies.
We see genomics becoming part of everyday healthcare and helping to drive more efficient and predictive care, in line with our vision of a world where everyone can benefit from genomic healthcare. We will be working hard through our major research programmes and work supporting the NHS to generate the evidence and insights around this ambition and help shape better health for generations to come.
