A quiet, imminent threat to health systems worldwide

Over the past two years, as the world responded to one of the greatest healthcare challenges of our lifetime with the COVID-19 pandemic, a quiet, imminent threat to health systems has grown in size and significance. Alongside infectious disease, non-communicable diseases (NCDs) like heart disease, diabetes, and cancer have long stressed public health systems around the world. More than half a million Europeans die prematurely due to NCDs, which is equivalent to 3.4 million life years lost each year.[1]

Figure 1: Main causes of avoidable mortality in the European Union, 2017¹

Many of these diseases are considered preventable². Yet, European healthcare systems have taken a reactionary medical approach rather than a preventative one. On average, less than 3% of European countries’ healthcare budgets are allocated to screening and prevention³.

This is not just a problem for the millions of individuals and families affected by preventable diseases. It is a potential destabilising factor to whole healthcare systems, and to the European social care model. NCDs already account for up to 80% of healthcare spending in the EU⁴. 

Given shifting generational and health dynamics, there is reason to believe that this number will only continue to grow in the future⁵. 

We are already seeing a rise in NCDs such as certain types of cancer, heart disease, and diabetes⁶. 

Rising NCDs prevalence is also driven by more long-term trends: young healthy and productive population (which shoulders the socio-economic burden of older generations) is getting smaller, while economic crises are driving increasing economic inequalities⁷. 

The rising prevalence of NCDs is also driven by more long-term trends. Young healthy and productive populations (which shoulders the socio-economic burden of older generations) are getting smaller, while economic crises are driving increasing economic inequalities⁹. 

The result is a potentially catastrophic scenario, where healthcare and social insurance systems cannot cope with the load of sick people, leading to less healthcare services and even greater inequalities, not just in Europe, but across the globe¹⁰. 

Figure 2: the shift in global disease burden, and share of non-communicable diseases by world regions¹¹

Predictive genomics has the potential to prevent this public health catastrophe and much of Europe has slowly begun the shift towards preventative and predictive medicine.   Europe has invested in genetics and genomics at an unprecedented rate most notably through initiatives like the 1+ Million Genomes Initiative¹² (and national mirror projects). An increased understanding of how our genomes influence health outcomes can lead to sizeable improvements and innovations in the way our healthcare system delivers preventative medicine.

Figure 3: Measurable factors that contribute to overall health¹⁴

But can genomics provide new solutions to help prevent NCDs, leading to longer, healthier lives?

Can we use genomics to shift our healthcare systems from mostly treating the ill to ensuring people do not get sick in the first place?


The science of predictive genomics has the potential to play a significant role toward such transformation.

What is predictive genomics?

Predictive Genomics harnesses the power of our genome to not only predict disease risk, but also to understand individual drug responses. This leads to focused health care options that should improve patient outcomes and manage costs.

Predictive Genomics consists of 2 main solutions:

• Polygenic Risk Scores or PRS
• Pharmacogenomics, or PGx.

What is Polygenic Risk Score?

A polygenic risk score (PRS) uses genomic information to calculate a person’s probabilities of having or developing a range of diseases. The final risk score is calculated based on differences in the person's genome – called genomic variants. Some of those variants increase the risk of developing a certain disease, while some others might reduce it. 

The National Human Genome Research Institute provides more insights on PRS here.

Predicting an individual’s risk of disease based on their genotype is one of the most appealing outcomes of genomic medicine. Individuals who have been identified as having a greater risk for a particular disease may be offered more targeted preventative therapies, including clinical procedures, medication protocols or lifestyle changes. Improved diagnosis, prognosis and treatment may also enable better outcomes and reduced the overall costs of health care for both patients and payers.

What is Pharmacogenomics?

Pharmacogenomics (also called pharmacogenetics, or PGx) uses genomic information from a patient to personalise the selection of medicines used in his/her medical management; hence providing a more individualised approach to the use of available medication.

Pharmacogenomics can play a crucial role in making drugs safer and more effective.

Safety
In the United States alone, almost 3 million people experience adverse drug reactions (ADR). It is estimated that 5% of all hospital admissions are due to ADRs. ADR is the 5^th most common cause of hospital deaths.¹⁴

Effectiveness
The most available medicines do not work for everyone. It is estimated that 90% of top selling blockbuster medicines only work for 30-50% of patients¹⁵.

Figure 4: Percentage of the population that responds to drug classes ¹⁶

Join us at EFHG 2022

The European Health Forum Gastein (EHFG) is one of Europe’s top public health and health policy congresses. For the last 25 years, ministers, European Commissioners, Members of the European Parliament, national decision makers, C-level industry representatives, and the top experts in public health have met at the Austrian mountain resort of Gastein to set the tone for the future of health policy on the continent. The event is co-organized by the European Commission and the Austrian Ministry of Health, with contributions from pharmaceutical, medtech companies and patients associations/NGOs.

Thermo Fisher Scientific chose the European Health Forum Gastein to continue the debate on predictive genomics. 

Join us on 28 September at 11:00 – 12:00 CEST. In this session, we will discuss the role of predictive genomics in medical prevention, exploring risks, and potential rewards in finding a European way to leverage predictive genomics.

As new European legislations focus on regulating the data and privacy space for the development of predictive genomics (AI act, European Health Data Space, European Health Union, Mission on Cancer, new NCD strategy—just to mention a few), this conversation could not be timelier. 

Despite its promise, serious ethical and privacy considerations over if and how to implement predictive genomics linger.

Questions we will address are:

• Why prevention is so important?
• Understanding Predictive Genomics (PG): What is it? What research has been conducted on PG? What have these studies shown us?
• PG & existing genomic initiatives: How can the 1 million genome initiative/European Health Data Space/EHU and national programs help to understand if and how to implement Predictive Genomics?
• What can PG do in practice to invigorate NCDs prevention tactics? What evidence do we have that PG works, or will work in the future? In which diseases can PG have the biggest impact?
• What are the risks associated with PG? Can we trust PG? What are the ethical and privacy concerns?
• What are the obstacles to implementing PG? How can we solve the lack of diversity in existing reference genomes?
• What can the EU and national governments do to better explore PG and its potential?

For the EHU to be successful, it needs a number of successful ‘moonshots’. Genomics is already at the centre of several pan-EU collaborations (1+ Million Genome Initiative, beyond 1 Million Genome project, Genome of Europe) and legislations (EHDS), yet it still has a long way to go to become mainstream in terms of approach. The session opens a debate with the EU public health community, an opportunity to weigh into the conversations over data privacy vs public good, economic sustainability vs risks of innovation. Predictive genomics could be the next ‘moonshot’ for the EHU, but in what conditions.

Session format

After a brief intro presentation, 4 "candidates" (industry, citizens/patients, academia, healthcare system/government rep) will express their position towards predictive genomics in quick rounds of questions in opening statements. Strict rules of procedure (timing, rebuttals etc) will be implemented by the moderators, who will challenge the candidates with questions.

Your opinion matters
Attendees (digital and on site) will vote at the beginning and at the end of the session on key policy recommendations and vision statements related to predictive genomics.

Register to attend EHFG 2022. Online participation is free of charge.

References^[1] Main causes of avoidable mortality in the European Union, 2017, available at: https://health.ec.europa.eu/system/files/2020-12/2020_healthatglance_rep_en_0.pdf² World Health Organization: Noncommunicable Diseases: Key Facts (2018). https://www.who.int/news-room/fact-sheets/detail/noncommunicable-diseases.³ EU NCD initiative, available at: https://health.ec.europa.eu/system/files/2022-04/ncd_initiative_faq_en.pdf⁴ Eurostat: https://ec.europa.eu/eurostat/web/products-eurostat-news/-/ddn-20210118-1⁵ The financial burden of non-communicable diseases in the European Union: a systematic review https://pubmed.ncbi.nlm.nih.gov/31220862/⁶https://www.who.int/news-room/fact-sheets/detail/noncommunicable-diseases#:~:text=Key%20facts,-%20and%20middle-income%20countries.⁷ The Lancet Taskforce on NCDs and economics: https://www.thelancet.com/series/Taskforce-NCDs-and-economics⁸ Determinants of inequalities in life expectancy: an international comparative study of eight risk factors https://www.thelancet.com/journals/lanpub/article/PIIS2468-2667(19)30147-1/fulltext⁹https://www.eea.europa.eu/data-and-maps/figures/the-shift-in-global-disease¹⁰ Determinants of inequalities in life expectancy: an international comparative study of eight risk factors https://www.thelancet.com/journals/lanpub/article/PIIS2468-2667(19)30147-1/fulltext¹¹https://www.eea.europa.eu/data-and-maps/figures/the-shift-in-global-disease¹²https://www.eea.europa.eu/data-and-maps/figures/the-shift-in-global-disease¹³https://digital-strategy.ec.europa.eu/en/policies/1-million-genomes¹⁴ Light DW (2014) New Prescription Drugs: A Major Health Risk With Few Offsetting Advantages. Harvard University. https://ethics.harvard.edu/blog/new-prescription-drugs-major-health-risk-few-offsetting-advantages¹⁵ Data in chart from McKinsey & Company analysis of data from a range of organizations. Article: “The era of exponential improvement in healthcare?” McKinsey & Company, May 2019, p. 6.¹⁶  Brian B. Spear, Margo Heath-Chiozzi, Jeffrey Huff, Clinical Trends in Molecular Medicine, Volume 7, Issue 5, 1 May 2001, pages 201 - 204.