Eight years ago today, Genomics England was launched with a mission to ‘unlock the power of DNA’ through the 100,000 Genomes Project. For nearly a decade we’ve worked to make this a reality. Now we are expanding on what we’ve learned, to help shape the future of healthcare in the UK.
The 100,000 Genomes Project was the most ambitious of its kind anywhere in the world. It combined genomic sequence data with medical records to create a ground-breaking research resource that developed researchers’ knowledge about genomics and has been responsible for driving real-world clinical results. As a result of the Project, which saw the 100,000th genome sequenced in December 2018, almost a third of those who joined the programme with rare diseases received actionable findings. This was particularly notable as many of those participants had been years or even decades without a diagnosis. In cancer around half of the cases had the potential for a therapy or clinical trial identified through combining DNA based insights with medical records.
The work of the 100,000 Genomes Project continues – for instance, we are now working with the NHS to return “additional findings” (genetic insights unrelated to the original reason participants joined the programme), to those participants who chose to receive them.
Today, we are also building on that experience and legacy to propel genomic healthcare into the mainstream. We’re doing this in two related areas: genomic healthcare and genomic research.
On the healthcare side, we are working hand in glove with the NHS to scale the NHS Genomic Medicine Service, where we have a particular focus on whole genome sequence diagnostics. Just as we share the same birthday, Genomics England and the NHS are true partners forging a path towards better healthcare for everyone, powered by genomics. This means quicker diagnosis, more personalised medicine and better preventative care across the healthcare system.
On the research side, there are huge opportunities to improve the wellbeing of the whole population by enabling the whole ecosystem (clinical research, university teams, start ups, biotech and pharma companies to do research at scale, and critically to bring those insights to bear for the benefit of patients and research participants. We’ve launched a major new programme this year around ensuring we’re engaging with and representing all our diverse communities in England and the UK at the level of dialogue and the level of data. We need to do this to ensure the coming personalised medicine revolution reduces rather than exacerbates inequalities in our society. It’s a hugely exciting time in which advances taking place at the intersection of these fields are powering our progress.
To make the most of these opportunities, we need to continue to ensure we’re acting in a way that is deserving of public trust. We’re acutely aware of our responsibilities as the custodians of a strategic national asset in the form of genomic data.
Despite COVID-19 meaning genomics and genome sequencing have increased in prominence in the public’s consciousness, knowledge and engagement remain low. The ‘Your DNA, Your Say’ project, which has been gathering information on public attitudes towards genomics data sharing, found that 62% of the public are unfamiliar with genomics. Trust in genomics, especially regarding sharing data with anyone other than an individual’s GP, remains relatively low. People are concerned about how their data is being used, by whom, and who stands to benefit.
At Genomics England we are making it our mission to increase awareness and understanding of genomics and the work that we are doing. But it’s not simply about convincing people about our good motives and the value of what we do. We need to earn their trust through consistent, honest engagement and storytelling.
We’ve found that conversations about genomics can sometimes turn people off. This is one part of a broader issue for our sector, with research showing that 76% of people are either not interested or will make no effort to engage in ‘science’. This illustrates that we have got to talk about the positive impacts of science in a more accessible way. We’ve already started doing this, most notably through our National Genomics Conversation, a series of public dialogue sessions we have commissioned in which people can debate pertinent and challenging issues around genomics. Earlier this year we also launched our own podcast, The G Word, where each week I speak to a different guest from across a spectrum of fields to get the grips with what genomics means, make the plethora of information out there more accessible, and dispel some myths along the way. It’s available on the Genomics England website, Apple, Spotify or wherever you listen to podcasts.
When having these conversations, we cannot simply lead with the benefits of what we’re doing – we need to be sensitive to the varying historical perspectives of different communities and seek to bridge the gap between their views and ours first. Genes are people’s identity, family and future, and they tell a human story. It is important to tell the stories genes contain too.
Genomics England, with its partners, has achieved a huge amount in eight years. Whether it’s the 100,000 Genomes Project, our ground-breaking work to study the effects of COVID – which has already found links between certain genes and more severe forms of illness – or discoveries that are unlocking potential treatments for cancers, we have demonstrated the potential power of genomic science when it’s applied to real life healthcare stories.
But while we’ve done a lot in the last eight year, the true potential of the impact we can generate as a genomics ecosystem in this country are yet to be revealed. Advances in bioinformatics, technology and clinical knowledge are being generated every day. To truly unlock the power of DNA and related technologies to create widespread benefits for healthcare at lower costs, Genomics England is working day in, day out to understand the big issues, deliver for patients and research participants and earn the public’s trust. If we get that right, we’ll create better healthcare for everyone. Here’s to the next eight years and beyond.