UK-wide genetic testing will boost health, save lives, and create a new pathway for economic innovation, says Dr Stuart J. Grice, co-founder and CSO at FitnessGenes.
The United Kingdom is at the forefront of genomics research. Initiatives like the UK Biobank and Our Future Health drive international collaborations that uncover the genetic and environmental factors that influence human health and disease.
This ambitious mission is rapidly improving our understanding of common chronic conditions like cancer, cardiovascular disease, and dementia and shedding light on the causes of many rare genetic diseases.
On the back of this research, a better understanding of how we develop the next generation of preventive care platforms and drug discovery pipelines will emerge. It is essential to invest in these opportunities if breakthroughs are to become tangible to patients and the public.
Pathways are already underway to apply genetic learning to rare disease diagnosis and targeted cancer treatment. As a next step, preventative healthcare offers many opportunities with significant benefits.
Around 86% of healthcare spending is attributed to managing chronic disease; however, only around 3% of the healthcare budget goes into preventing these diseases. There is a need, therefore, for both the public and private sectors to be incentivised to expand disease prevention initiatives.
Realising the benefits of new discoveries is not always easy. Although the UK has a strong history of innovation, it has often failed to capitalise on the translational and economic potential of the technologies they have strived to invent.
An exemplar of this is the computing revolution. Starting from Alan Turing’s foundational work on computing and Manchester’s 1951 release of the first commercial computer, the Ferranti Mk1, to Clive Sinclair’s 1980 mass-market ZX81 home computer and Tim Berners-Lee’s fundamental work on the World Wide Web, UK inventors have frequently been first movers in the industry.
Nevertheless, countries like America, Japan, South Korea, and Taiwan established the companies that became the principal developers of the computer software and hardware that is ubiquitous today. The post-mortem on the UK computer industry identified several contributing factors, including a lack of standardised practice and an unresponsive investment environment.
One route to seed growth would be to enable the public procurement of genetic testing for sections of the population. This would require adopting accurate predictive models to build confidence in the preventative space.
Both familial hypercholesterolaemia (FH; approximately 200,000 potential carriers in the UK) and hereditary haemochromatosis (HH; with up to 1.2 million people at risk) offer very plausible starting points.
Consider for a moment that men carrying the FM mutation face a sobering 50% chance of experiencing a heart attack before the age of 50, with women not far behind. With only around 10% of cases believed to be diagnosed, that’s nearly a quarter of a million people in the UK potentially at risk.
HH, leads to a gradual build-up of iron in the organs over decades, resulting in cirrhosis, diabetes, liver cancer and heart disease. Symptoms typically don’t appear until an affected individual is in their 30s or even 40s, when damage has already been done.
Both conditions are significantly underdiagnosed, can be detected early on, and have practical treatments that offer already evaluated life quality and cost benefits.
As the testing proof of concept is realised, new applications could be adapted where standardised user-owned genetic data sets could highlight other health risks. For example, around 2% of the UK population carries two copies of the Alzheimer’s disease-linked ɛ4 version of APOE, while 23% carry one copy.
Recent research has shown that the presence of two copies may confer a distinct genetic form of Alzheimer’s disease, while one copy increases someone’s likelihood of getting dementia. As these conditions develop over many decades, testing becomes essential as a patient’s risk may not become apparent until significant symptoms of this disease are evident and irreversible damage manifests.
This long window for preventative action offers a second level of opportunity. The research provided by the UK genomics programs will continue to highlight the lifestyle factors that alter the risk of getting a disease or the age of its onset.
For many conditions, many of the preventative measures a person will need to take will be performed outside of the clinic and thus will need to be supported by the private sector.
Public investment in genetic testing could drive private investment into companies that offer services that can provide the right food, exercise, and lifestyle advice for each condition.
These can include local businesses and SMEs catering to the needs of new biologically stratified consumer groups. Innovation could reach industries as broad as food production, hospitality, and education.
As the UCL economist Mariana Mazzucato states, mission-orientated strategies can turn crises into opportunities that will enhance cross-sectoral collaboration and innovation.
Public-private partnerships in genomics could create an economic environment that incentivises the formation of start-ups that support the preventative health ecosystem of the future.
A UK-wide genetic testing strategy will not only extend healthy lifespans, save lives, and reduce the burden on public health services but also have the potential to lead to considerable innovations in the health economy.
The UK’s excellence and investment in disease genomics research has set the standard. It is now time to be brave.
REFERENCEs
https://committees.parliament.uk/writtenevidence/117088/pdf/
Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review. Pharmacoeconomics. 2024; 42(4): 373–392.
APOE4 homozygozity represents a distinct genetic form of Alzheimer’s disease Nat Med 2024 May;30(5):1284-1291
