Predictive genomics can transform healthcare, shifting the focus towards prevention and getting better value for the money we spend. In the first of a two-part mini-series, Francesco Floridini explores this new paradigm in healthcare.
Healthcare today is all about treating people who are ill. They experience symptoms, engage with the health system, and receive an intervention ‒ perhaps a drug, a device, surgery or recommendations for lifestyle change. This works well for some. For others, diagnosis comes too late or the intervention doesn’t work as had been hoped, and doctors must try something else. Outcomes vary and, more often than not, there is no way to tell which treatment will work best in a given patient.
This is not only inefficient, but costly. Many healthcare systems across the world are perilously approaching the point of no return in terms of sustainability. Ageing, sedentary lifestyles and unhealthy nutrition are driving the rising prevalence of non-communicable diseases (NCDs) such as certain types of cancer, cardiovascular diseases and diabetes.
At the same time, the young healthy and productive population (which shoulders the socio-economic burden of older generations) is getting smaller, while economic crises are driving inequalities. The result is a potentially catastrophic scenario, where healthcare and social insurance systems can’t cope with the load of sick people, leading to less healthcare services and even greater inequalities.
Focus on prevention
There is another way. I see mounting evidence that predictive genomics (PG) can provide individuals and health systems with key information on who is at risk of a wide range of diseases. And, crucially, how this risk can be reduced to improve outcomes and use finite resources well. Information is power.
Prevention is at the heart of this new model which I am confident has the potential to make our systems more sustainable, even in the face of future pandemics, ageing populations and rising rates of chronic disease.
That ‘prevention is better than cure’ is something we say rather than something we do. OECD countries spend around 3% of the health budget on prevention, spread across large programmes including screening, immunisation, smoking cessation and behaviour change initiatives.
This needs to change if we are to make the most of advances in technology. The goal ‒ which strikes me as both simple and radical ‒ should be to keep people healthy; to keep them out of the health system.
A new paradigm
This is not some far-off forecast that may or may not materialise. This is happening now. It is already possible to use genomic information to determine the likelihood of someone developing common conditions such as diabetes and cardiovascular disease, or rare cancers and metabolic diseases. Scientists can calculate the risk of schizophrenia, ADHD and dementia, as well as breast or prostate cancer.
And here is the important part: this information opens the door to tailored lifestyle advice, selective screening and medical interventions. I have seen good data showing that polygenic risk scores (PRS) for cardiovascular disease can change people’s lives for the better.
When researchers in Finland gave over 7,000 people their risk scores and followed them for a year and a half, they found a stunning change in behaviour. One in five people engaged with their doctor; 12.4% lost weight, and 14.2% stopped smoking. Information can be an intervention tool, and I can hardly think of a more efficient one than PRS.
Not all diseases can be prevented using genomics. Yet, predictive genomics can help patients to get the right treatment for them and manage side effects better. Using pharmacogenomics, doctors can take decisions over which chemotherapy to use, and at what dosage, so to maximise curative effect and minimise side effects. The same applies to wise use of antibiotics: why not get it right the first time and reduce the unnecessary use of antimicrobials?
Given the value of predictive genomics, the question is how we can accelerate its uptake in our health systems. In the concluding part of this series, I will look at the barriers to progress and how to remove them.
 Communicating polygenic and non-genetic risk for atherosclerotic cardiovascular disease – An observational follow-up study
Elisabeth Widén, Nella Junna, Sanni Ruotsalainen, Ida Surakka, Nina Mars, Pietari Ripatti, Juulia J Partanen, Johanna Aro, Pekka Mustonen, Tiinamaija Tuomi, Aarno Palotie, Veikko Salomaa, Jaakko Kaprio, Jukka Partanen, Kristina Hotakainen, Pasi Pöllänen, Samuli Ripatti
medRxiv 2020.09.18.20197137; doi: https://doi.org/10.1101/2020.09.18.20197137
 Carr, DF, Turner, RM, Pirmohamed, M. Pharmacogenomics of anticancer drugs: Personalising the choice and dose to manage drug response. Br J Clin Pharmacol. 2021; 87: 237– 255. https://doi.org/10.1111/bcp.14407