From Crick and Watson’s discovery of the double helix (the structure of DNA molecule) to the subsequent establishment of the Human Genome Project which enabled us to read the complete genetic blueprint of a human being, the UK has a long heritage in genomics.
More recently genomics has revolutionised how patients are diagnosed and treated and, thanks to continued efforts and investment from both industry and government, methodologies over the years have been refined, driving down the cost to sequence a genome and making it more accessible for clinicians to use in everyday practice.
When the first draft of human genome was completed it had taken 13 years and over £2 billion to read the genetic code. Today, a genome can be sequenced in a few days and costs less than £1000.
But where the potential of genomics had previously only been realised by those at the cutting edge of the medical research, thanks to the pandemic it has now been thrust into the limelight for the wider public.
As policymakers look for efficient ways to recover NHS services and outline priorities for the future, there is a unique opportunity for genomics. Given the strong foundation of investment and expertise it would be remiss to not reflect on how genomics has supported us throughout the pandemic, and ensure that we embed genomics into planning for the future.
Throughout the pandemic
Without genomics, controlling the spread of COVID wouldn’t be possible. Rapid genome sequencing has enabled researchers to develop vaccines at pace, monitor outbreaks and map variants – all of which play a crucial in managing spread and impact of pandemic.
Through tracking community transmissions, scientists have been able to identify similarities in viral sequences which would suggest the virus was transmitted from a similar source. This has allowed public health officials to identify outbreaks and tailor interventions for specific regions to combat spikes in infections – this information undoubtedly informed the tiered restrictions system in England.
This process has also been instrumental in monitoring transmission in hospitals and care homes, and has enabled the identification of internal outbreaks which would be putting patients or residents at risk of COVID infection, informing decisions to step-up measures to prevent infection including limiting staff movement.
Because there have been so many infections with the virus – nearly 200,000,000 at the time of writing – the virus has had ample opportunity to mutate. Most changes have little impact on the properties of the virus, however some make the virus more severe, impact vaccine effectiveness or make it more transmissible.
Genomic surveillance teamed with international collaboration in identifying and mapping new variants will be crucial as governments look to return to normal and will inform the level of domestic restrictions as well as determining international travel protocols where concerning variants are prominent. The UK is leading the way, offering its expertise to countries with less-developed genomic capacity and expertise through the New Variant Assessment Platform. The Platform seeks to promote ‘health security across the world’ by ‘boost[ing] global capacity to understand coronavirus so we’re all better prepared for whatever lies ahead’.
Effective vaccines have long been thought of as the holy grail which will lead us out of the pandemic. Genomics has helped scientists to understand the DNA sequence of the virus, enabling researchers to target specific characteristics of the virus. As we fast approach rolling out booster jabs for the vaccine, genomics will undeniably play a critical role in allowing us to understand vaccine efficacy on mutations of the virus.
Beyond the pandemic
For the new Health Secretary and new Chief Executive of the NHS, clearing the NHS backlog is sure to be the number one priority as they take on their new roles, and as we look beyond the pandemic genomics should be an important tool in how the health system recovers.
Clearing the backlog in cancer
The backlog for NHS services created by the pandemic needs no introduction, and in cancer around 16,000 people currently waiting more than 62 days for a diagnosis, of whom about 12 per cent are thought to have cancer.
Genomics can and does play a critical part in diagnosing cancer, because cancer is a disease which alters what once was ‘normal’ DNA. By analysing tumours and identifying the different changes in genes, researchers can develop treatments that target specific mutations, and doctors can prescribe treatment tailored to the specific cancer. This will be increasingly important as we look to clear the backlog in diagnosing cancer, with quicker diagnosis and more accurate prescribing meaning better outcomes for patients and reduced re-admissions to hospital.
Saving the system money
Following the pandemic it will be increasingly important to keep patients out of hospital and improve outcomes for patients. As seen in cancer, pharmacogenomics – the study of how genes affect a person’s response to drugs – enables clinicians to offer patients treatments tailored to their specific disease, accounting for mutations identified through genomic sequencing of the virus.
Pharmacogenomics can play a key role in saving the system money through personalised medicine. It is thought that drug interventions are effective in just 30-60% of patients because of the difference in how individuals react to the treatment. The right treatment first time saves the system through a reduction in failed treatments and in some cases the need for re-admission to hospital.
With the spotlight firmly on COVID recovery, we are at a critical junction for cancer services and the NHS as a whole. There has never been a better time for the UK to leverage its world leading expertise and reap the benefits from the substantial investment in capabilities and technologies to work with the health system to harness genomics and build in genomics capabilities to recovery plans.
As the genomics community continues to work at tremendous pace to tackle the virus with the tenacity shown in the pandemic, there is opportunity for policymakers to revisit government initiatives, such as the Genomics Strategy, to reflect the lessons from COVID to accelerate and embed the role that genomics plays in our health system.
Now is the time for the UK to cement it’s status as a global leader in genomics, whilst ensuring patients are offered the best possible predictive, preventative and personalised care.
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