“Genomic data and analysis has the potential to transform healthcare by identifying people most at risk of certain diseases, allowing for targeted prevention measures and earlier detection and treatment.”
This statement by Professor Peter Donnelly FRS, Founder and CEO of Genomics speaks of the potential to turn the NHS from a reactive organisation to a proactive one. Genomics is a company that is trying to transform the approach to drug development and healthcare using genetics. Donnelly thinks that doing so could save both lives and money, and the NHS is starting to incorporate the game-changing technology.
On 27 February 2019, the UK Department of Health and Social Care announced a new National Genomic Healthcare Strategy to ensure the UK is able to offer a predictive, preventative and personalised health and care service.
The Rt Hon Matt Hancock MP, UK Secretary of State for Health and Social Care, also recently made comments about the potential of genomic data to improve disease management in the NHS.
In response to this momentum, Genomics has announced it has developed cheap predictive tests for 16 serious common diseases.
Polygenic risk scores
Despite improvements, sequencing a whole genome is still expensive and slow. After the NHS’s 100,000 Genomes project, which sequences whole genomes to provide a data bank, statistics has found that risk factors can be extracted without the need for the entire genome.
Each individual genetic variant in a person’s DNA typically has only a small effect on a person’s risk of developing common diseases. But the impact on risk can become significant when large numbers (hundreds to millions) of those small effects are aggregated.
Using its data analytics capabilities, Genomics has identified different sets of variants which are correlated with risk of developing 16 common serious diseases. From this analysis, “polygenic risk scores” can be calculated to identify individuals whose DNA puts them most at risk of these conditions.
Financial benefits
Polygenic risk scores can encourage people to make lifestyle changes to mitigate their elevated risk of certain diseases and improve early detection by helping health systems target screening at the most high-risk segments of the population.
The obvious money-saver is the direct cost, with prevention from genome sequencing usually being cheaper than curing the disease in the long run. However, rather than a whole genome, the genetic variants needed to calculate polygenic risk scores can be measured using genotyping chips for about £20-£40 per person, much lower than the £500-£1,000 cost of whole-genome sequencing.
This type of innovation can also create cost efficiencies in indirect ways. Prioritising people for screenings based on risk could be very effective.
Say based only on their genes, 3% of women most prone to breast cancer have the same level of risk when they are 45 as a typical woman who is 55, whereas the 3% at lowest risk won’t reach the same level of risk until they are 75.
Currently, in the NHS, breast cancer screening is based solely on age, with all women being offered screening when they turn 50. The use of polygenic risk scores could prioritise patients at risk, allowing for more efficient use of screening.
This more proactive approach to disease management and prevention could save lives and money by making the NHS and other health systems more efficient and effective. This change could also create more of a need for preventative drugs throughout the pharmaceutical industry.
The 16 diseases
Although other academic and commercial groups have reported polygenic risk scores for individual diseases, today’s announcement of scores for 16 different common diseases, with ongoing work in many other conditions, marks a big step in the applicability of the approach.
The 16 diseases included that now have “polygenic risk scores” are:
- Age-related macular degeneration
- Asthma
- Atrial fibrillation
- Breast cancer
- Chronic obstructive pulmonary disease
- Crohn’s disease
- Coeliac disease
- Coronary artery disease
- Glaucoma
- Hypertension
- Multiple sclerosis
- Obesity
- Prostate cancer
- Systemic lupus erythematosus
- Type 2 diabetes
- Ulcerative colitis
Dr Vincent Plagnol, Head of Precision Health at Genomics, said for most of us there will be one or two diseases where we are at considerably higher risk, but which one/s will vary by person. Having this information before the effects take hold gives both the patient and their doctors a head-start to reduce the risk.
However, “while genetics is an important part of disease risk, it is critical to remember that, whatever we inherit, we can move that risk up or down a lot through our lifestyle choices,” Plagnol reminded.
