Predictive genomics: how Europe can tackle the barriers to better prevention

  • Posted on 02.05.2022

Predictive genomics: how Europe can tackle the barriers to better prevention

Francesco Florindi

Strategic Partnerships Manager – Predictive Genomics, Thermo Fisher Scientific

We need to start a conversation now about how to prepare our systems and societies for the changes on the horizon. In the second of a two-part mini-series on predictive genomics, Francesco Floridini examines how Europe can accelerate the transition.

I believe technology is no longer the key barrier to unlocking the potential of predictive genomics. Most large European countries, including France, Germany, Spain, Italy, the UK and the Nordic countries, have made large investments in genomics and have the necessary infrastructures to get predictive genomics to the clinic in the next 5 years.

The challenge now is to move from running academic research projects towards making this approach the norm in a clinical setting.

What’s missing is:

  • efficient and safe health data sharing;
  • genetic counsellings and awareness among health professionals;
  • pathways to market and reimbursement models that recognise the economic value of predictive genomics.

First: health data. Potential harms could arise if personal health risk data is not kept in a safe, private environment. Yet, predictive genomics cannot happen without robust and comprehensive health data sharing. There is a need for a new social contract between citizens, governments (as healthcare providers) and industry on health data sharing. The hope is that the forthcoming European Health Data Space would provide a framework within which to integrate predictive genomics in a safe and effective way.

Second: awareness. While predictive genomics is not new (the technology on which it is based, microarrays, is very well established), it has not entered doctors’ curricula or treatment guidelines, apart from a few examples[1]. It is necessary to inform practitioners about the state of the art of predictive genomics and prepare them for the upcoming uptake of PG solutions in the market.

There are plenty of genetic tests available to patients, and genetic counsellors are doing a great job in providing advice to patients on how to interpret results. Yet, the practice of genetic counselling is not harmonised across Europe, and often they have little experience with predictive genomics solutions.

Patients associations are great drivers of knowledge and support to millions of patients across the continent: they should be made aware of predictive genomics’ potential and made co-creators of PG solutions fitting their needs and expectations. Industry has a role to play in raising awareness in all three stakeholder categories, provided it does so responsibly and in line with the prevailing scientific opinions.

Finally: the economics of predictive genomics. Let’s get back to the Finnish study mentioned in our previous article: if a new drug would present the same combined results as the PRSs in the study, it would become an immediate blockbuster. However, right now, there is not a clear pathway for reimbursement of predictive genomics solutions. Some digital and information-based health interventions are slowly entering healthcare systems[2], but uptake is really slow.

Pharmacogenomics can significantly cut healthcare costs too: real-world data from 5,200 patients in the USA[3] shows that implementing pharmacogenomics can cut over $7,000 in direct medical charges per patient, totalling $37 million in saving over 32 months of observation. All this on top of reported better health outcomes for the patients involved in the study.

The Health Technology Assessment community needs to invest their attention in this without delay. All stakeholders should co-create an approach to calculating the value of preventative tools. Otherwise, the tools will continue to develop but will be available only to those with the capacity to pay privately to improve their long-term outcomes while the majority waits for public health systems to embrace this preventative mindset.

Start today to prepare for tomorrow

Governments across Europe have a responsibility to evaluate new ways to predict and prevent disease and keep people healthy, providing citizens with the tools to change their lifestyles and, at the same time, supporting public health professionals with the most innovative tools available to allocate dwindling resources effectively.

It’s time for Europe to start a conversation on how we can prepare for a new way of keeping people healthy. Getting this right will mean rethinking the social contract in key areas, including the trade off between a data-driven health system and data security, and the short-term investment in prevention required to realise long-term gains.

I believe there is much to gain by getting this right, and a lot to lose by waiting until it is too late. Let’s start today.


[1] Annals of Oncology (2021) 32 (suppl_5): S1102-S1110. 10.1016/annonc/annonc711

[2]  In Germany, the Federal Health Ministry has put together criteria for Digital Health Application to be reimbursed, and it is promoting their use via the DiGA directory

[3] Jarvis, J.P.; Peter, A.P.; Keogh, M.; Baldasare, V.; Beanland, G.M.; Wilkerson, Z.T.; Kradel, S.; Shaman, J.A. Real-World Impact of a Pharmacogenomics-Enriched Comprehensive Medication Management Program. J. Pers. Med. 2022, 12, 421.

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