Written by Matthew Woolf, Education & Outreach Executive
The NHS wants genomics to inform half of all healthcare interactions by 2035. At Genomics England’s Research Summit, I learnt about the work aiming to keep this ambitious target in view.
The sequencing of the first human genome 23 years ago initiated a rush of discovery, as biologists excavated the goldmines of richer, more abundant biological data than had ever been seen before.
This wealth of information created a new field of research: genomics, the study of entire genomes and how genes in an organism interact. If traditional genetics is the study of individual houses, genomics studies whole-town cohesion, from a satellite view.
And it holds enormous potential for preventative care. By analysing the variation in the DNA of a vast number of people, alongside information on their health, scientists can discover new associations between genes and disease. This can lead to earlier diagnosis and speedier treatment, both vital for optimising a patient’s outcome.
Genomics England are the organisation tasked with gathering the data scientists will mine. This has already begun with ambitious initiatives like The Generation Study, which aims to sequence the genomes of 100,000 newborns. For a baby called Freddie, an early participant of the study, the project is already delivering on its promise.
Four weeks into his life, after passing all newborn eye tests, his parents were informed by the study that he had a harmful variation in his RB1 gene. This allowed him to be diagnosed with an ultra-rare and aggressive form of eye cancer, despite an absence of symptoms. Three tumours were identified, and he was able to begin treatment immediately. His mother, Vicky Underhay, is in no doubt, “taking part in the study changed the outlook on Freddie’s vision, which doctors are [now] hopeful of saving”.
But according to Genomics England’s CEO Professor Rich Scott, whilst Freddie’s story highlights the immense power of genomics in public health, there is still a way to go before his story is standard within the health system. Professor Scott stated that trust is hard won and quickly lost. He stresses that the patient and public community must be actively engaged at all stages, and benefits communicated clearly.
And this isn’t limited to care. His vision involves an integrated system where insight from people’s genomes can provide access to real-world help such as government benefits. If the 2035 target is to be met, then genomic data will need to become a standard part of a person’s healthcare record. And this can have an impact on the treatment itself, not just diagnosis
The day’s winning abstract was by Dr Claudia P Cabrera, who is using data from Genomics England to make progress in a brand-new field: pharmacogenomics. This burgeoning area of research aims to tailor the choice and dose of drugs to a patient’s specific genome, optimising patient’s responses and minimising potential side-effects.
Her work has discovered that 99.3% of people in the study have a variant in their DNA that will affect their response to commonly prescribed drugs: 77.6% of people had a variant that affected responses to anti-depressants, 91.1% to drugs affecting cardiovascular conditions. A future in which drugs are targeted more specifically, can reduce the side effects that cost thousands of lives.
Genomics can be used for prevention and treatment, but the jump from 100,00 to a population level data pool will require continued buy-in, and improved ability to manage cases. The 10-year target is still ambitious, but the more the benefits stack up, the closer the goal becomes.
At Jnetics, we recognise genomics as a powerful tool for safeguarding community health, but we are also familiar with the challenges of communicating the benefits in a clear and accurate manner. Rather than inducing anxiety, we believe participants should leave feeling empowered by the knowledge they gain. Beginning with tailored education sessions, and with genetic counselling on call for all queries, our screening process is designed to support participants at every step.
We share Professor Scott’s belief that genomic health programmes should place participant benefit at their heart and we will continue to embody this as we move forward as a charity.
