Genomics is revolutionising the way we think about healthcare. This is perhaps a bold statement to quote from the National Genomics Healthcare Strategy (NGHS) but one I am fully invested in. The recent launch of the NGHS indicates that whole genome sequencing (WGS) has already become much more integrated into clinical care than is perhaps known. From diagnosis to personalised treatments, genomics is providing a far more detailed understanding of the causes of illness and underpinning intervention in more ways than we could have imagined a decade ago.
Genomics is already improving the population's health through better disease prevention and better screening, and in the UK providing healthcare professionals and researchers, from academia and industry, with a unique ability to use genomic sequencing data to make informed decisions.
It is hard to believe it was only 2013 when the original vision to sequence 100,000 genomes was laid out with the intention of genomics becoming used widely in routine healthcare, and yet here we are, seven years later, looking at a project that we at Genomics England delivered in partnership with the NHS and our participants, which has been a catalyst for driving change at an extraordinarily fast pace.
Today, Genomics England is at the heart of a thriving UK genomic ecosystem and will continue to be fundamental in supporting the UK's desire to become the best place in the world for genomic healthcare and research. Our infrastructure is now in place to facilitate and deliver WGS with the National Health Service (NHS) as a mainstream healthcare test. Central to the vision and the power of the infrastructure we have built is that all patients undergoing WGS through the NHS will have the offer of their data also being used for research – enabling a national 'virtuous cycle' linking diagnostics and research, to ensure that patients today and in the future benefit from the very best care.
One of the successes of genomics in the UK, is the collaborative framework and infrastructure that has been built, focused on diagnosis and personalised medicine, prevention and research and supported by a major emphasis on public engagement and developing ethical frameworks for genomic healthcare and research.
At Genomics England, working in partnership with NHS England, our focus is on diagnosis and personalised medicine. Another major component of the UK genomics infrastructure is UK Biobank, a major national and international health resource focused on genomic research. Alongside us are a multitude of programmes moving from small scale academic research to multimillion-pound programmes that now exist as a community entirely committed to finding tangible benefits for patients now and in the future.
All of this, combined with our enabling ability to bring genomic data together securely for future benefit, has allowed this integration of genomics to happen at scale, at an affordable cost and in a timely manner. The new NHS Genomic Medicine Service will deliver an integrated system for genomic testing and, supported by the systems we deliver at Genomics England, will work to further transform pathways of care and create multi-disciplinary teams and cross-professional infrastructures that will be critical for the future.
One of the key areas of our focus has been working out how we can deliver cutting edge genomics services to the NHS that enables clinicians to provide diagnostic genome testing into routine patient care. Currently, we are on the brink of being able to offer WGS as a routine test to patients with certain rare diseases or cancers. Significantly this means the NHS will become the first national health system in the world to be able to provide this level of care, and in doing so is set to transform the healthcare landscape. For approximately 25 percent of those with rare disease, this can provide a diagnosis where conventional testing has failed to, ending the 'diagnostic odyssey' for families that has often lasted years. A diagnosis brings greater understanding about the cause and prognosis. In a small but growing number, it brings the prospect of tailored treatment. In cancer, as well as assisting in diagnosis and prognosis, WGS can identify patterns of genetic mutation that help in tailoring treatment. In some cases, these are novel, 'mutation-specific' therapies such as larotrectinib.
Finally, the most current example of impactful genomics-led research is our partnership with the Genetics of Mortality in Critical Care (GenOMICC) consortium to carry out a COVID-19 study to sequence the genomes of 20,000 people who had a severe infection and were hospitalised, and comparing their genomes with up to 15,000 people who had milder or no symptoms (see BioNews 1054). The study aims to identify the genetic factors that influence the severity of response to COVID-19.
Already, work from the GenOMICC team has identified regions of the genome harbouring variants that confer an increased risk of critical illness with COVID-19, potentially identifying new druggable targets for clinical trials. The demonstrates our unique position to conduct translational genomics research. We have built the infrastructure that allows us to rapidly perform whole genome-led research and to provide new insights that can be rapidly integrated into healthcare system.
As we continue to build our genomic datasets they will become even more significant in depth and breadth, and as we now have an infrastructure that supports the integration of vast amounts of data we can be confident that genomics will continue to be at the forefront of driving successful patient outcomes and no reason to believe that our ambitious NGHS won't be achieved.