Coming of Age? How to Translate Generation Genome into Clinical Practice
Karen Lighting Jones, Head of Future Place at Roche
Back in 2016, Dame Sally Davies concluded her Chief Medical Officer annual report by saying “Genomics is not tomorrow, it’s here today. I believe genomic services should be available to more patients, whilst being a cost-effective service in the NHS”.
This is an ambition that we fully supported at the time, and continue to do so, but how close are we to meeting that vision, three years on? It is clear is that genomics has become a defining element of the agenda to advance healthcare. The completion of the 100,000 Genomes Project, announcement of the sequencing of 500,000 genomes and the launch of the National Genomic Service, combined with strong endorsement from government and the bold pledges in the NHS Long Term Plan, have created a real sense of excitement and a genuine opportunity to change clinical care to improve patient outcomes, based on a better understanding of a person’s disease.
Much of the work to date has delivered huge benefits for medical research, specifically when it comes to rare diseases, as opposed to those living with cancer. It has enabled us to uncover new diagnoses, giving greater certainty to patients, and creates opportunities to discover new treatments. Yet this is just the start. UK scientific research must be maintained because there is still much more we can learn about the value of genomics. The opportunity now is to translate this knowledge into improving outcomes for patients in routine NHS care.
In practical terms, this could mean new treatment options for patients with rare or hard-to-treat cancers. It could enable patients to receive treatments that are more tailored to their individual cancer and minimise the use of ineffective treatments. Ultimately, it would shift health services from a “one size fits all” approach towards truly personalised treatment.
Achieving this will not be straightforward and the NHS will need to evolve rapidly, including ensuring the right funding is available, investing in and upskilling the workforce, and finding a way to ensure equitable access to the range of different tests across the country. This cannot be achieved by the NHS alone; it will require effective partnerships between the research community, the pharmaceutical sector and patient advocates to make decisions on what the priorities in genomic medicine must be. As this is a shared endeavor, the approach to addressing the barriers needs to be transparent, collaborative, and focused.
In some areas, a small adjustment can make a big difference. Take the current approach to commissioning testing in the NHS, the Genomic Test Directory. While it was first published in 2018, it is only updated on an annual basis. This fundamentally restricts the flexibility in the system to accommodate change. What if a new technology is discovered, but then we must wait 12 months before it can be incorporated? It goes against the grain of the current Government’s agenda to sweep aside the barriers preventing the best innovations from reaching patients in the NHS. That is why Roche is calling for reforms to make the Test Directory more open and interactive, by increasing the frequency of updates, and allowing regular engagement opportunities for input from clinical experts and industry.
We also need to take another look at how we assess medicines so they are available to patients. Genomics has shown us that each person’s tumour is different and requires a bespoke approach. However, current regulatory methods rely upon data results from randomised control trials with large population cohorts, not on a person’s genetically unique cancer. The conventional method works for traditional medicines, but for medicine decisions that are guided by genomic data, we need an approach that caters for the uniqueness of the tumour. This is an important aspect of the medicines evolution that must be updated to reflect progress, and it’s been encouraging to see NICE recognise this as part of the ongoing Review of Methods.
Funding also remains another area which must be addressed. Scientific advances have provided a repertoire of different genetic and genomic testing technologies all with specific advantages and disadvantages. In some areas, funding is becoming available, however, there is currently no central funding support for large or broad panel tests, despite the technology already being used widely in other healthcare systems, and there being evidence to suggest that these could deliver immediate and more-actionable clinical results than whole genome sequencing. We think this is a major barrier preventing the widespread adoption of genomic profiling services across England.
The workforce also needs to see significant transformation. Simply put, we don’t have enough skilled individuals, such as bioinformaticians, who play an essential role in analysing genomic tests and translating this into a report that clinicians use to inform decision-making. Alongside growing the workforce, we also need to train and upskill those already working in the system to understand genomics and its application in order for genomically guided treatments to become an everyday aspect of clinical life. The Topol Review identified oncology, clinical microbiology and paediatrics as the specialisms which would most immediately benefit from training in interpreting genomic analyses.
Alongside the ‘core’ specialisms, there’s a wider piece of work to be done in engaging properly with the entire healthcare community and the public. Genomics requires a balance to be struck between public and private, between the state and the individual, and between research that benefits society compared to the individual. Securing engagement and trust with patients, the public and the system is a necessary endeavour. IPSOS Mori found that the public was receptive to the ideas of genomics being a ‘moon-shot’ initiative, while research from The NHS at 100 Report[i] of 5,000 adults across England, found that 89% would be comfortable sharing their data with the NHS, and 90% would be comfortable with the NHS analysing their personal health data for diagnosis and treatment that is personal to them.
But communications need to be balanced: on the one hand we need to show that genomics is ambitious and potentially groundbreaking. However, at the same time, we need to avoid exaggerating its capabilities, especially if other parts of the system have not evolved to take advantage of the potential that genomics provides. Additionally, the collection and sharing of this new type of healthcare data raises questions around security, access and consent. The pharmaceutical industry has the experience of handling sensitive patient information during clinical trials and can bring this experience to bear in reassuring the public on this matter.
The best way for us to communicate about genomics is by demonstrating how it tackles the problems facing health systems right now. As highlighted by a recent analysis of international cancer performance metrics across two decades, the UK still lags behind six high income comparator countries on cancer outcomes.[ii] If we are to improve survival rates in cancers such as rectal, pancreatic, lung and stomach where the UK performs worst, we need to have the right tools. Genomics is one of those tools, in providing information that an oncologist can then use to make decisions on the most suitable therapy.
It is clear there are many factors to consider in terms of translating Generation Genome into mainstream clinical practice. Alongside calling for the new Government to prioritise genomic medicine, Roche is also calling for a series of concrete measures to be delivered over the next 18 months.
We want the Government to address issues with central panel testing through the establishment of a new £30m Genomic Cancer Medicine Transformation Fund. Roche also wants the forthcoming National Genomics Strategy to consider how genomic testing can complement reforms to enable faster access to new rare disease and genomically guided medicines; and a clear plan for how pooled genomic data can be accessed by those developing new treatments, whilst ensuring there are clear rules for standardised genomic data collection and use.
Roche is also seeking to partner with the NHS to communicate the benefits of genomics to the public using our insights from research and development. We will seek to use case studies and benchmarking that demonstrate how the new Genomic Medicine Service is already improving outcomes for patients across England.
Finally, while positive steps have been made recently, we would like to see regulatory and assessment bodies update the approach for the appraisal of precision medicine molecules. In practical terms, this means accepting novel clinical data packages, and making the process for assessing a new medicine more iterative and frequent, whereby patient benefit and evidence accumulation go hand-in-hand.
If the above recommendations are met, I believe we will see an established Genomic Medicine Service as part of mainstream NHS clinical care by the end of 2021, and then we can confidently say that genomics has ‘come of age’.
A full list of detailed recommendations are listed within our report: Coming of Age? Translating Generation Genome into Mainstream Clinical Practice.
[i] The NHS at 100: Future Proofing Healthcare, November 2018, Roche Products Limited.
[ii] Arnold M et al. Progress in cancer survival, mortality, and incidence in seven high-income countries 1995-2104 (a population based study). The Lancet Oncology. Volume 20, issue 11, p1493-1505. Nov 2019 [last accessed January 2020].
To hear more about how the pharmaceutical industry is evolving in personalised healthcare and the role that Roche is playing, please head to The Other Stage at 11.50am on 30th January for a presentation by Josh Lauer – Vice President, Global Head of Personalised Healthcare Market Development, Roche.
Karen has worked in the pharmaceutical industry for the last 18 years in commercial, market access and strategic roles and currently leads the Future Place franchise with responsibility for Strategic Partnerships and Personalised Health across Roch UK. She is passionate about transforming the way we think about sustainable healthcare, the human genome, use of data and the emergence of AI to better understand how we can work together to develop better outcomes for individuals, society and economies.