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Genome-based knowledge and public health: the vision of tomorrow and the challenge of today

Tobias Schulte in den Bäumen
DOI: http://dx.doi.org/10.1093/eurpub/ckq201 4-5 First published online: 18 January 2011

Several years after the first human genome has been decoded, the various ‘omics’ technologies struggle to translate basic science discoveries into clinical and public health applications. While several success stories are available, the promise of genomic medicine for 2010 remains largely unfulfilled. Most genomic publications are in basic sciences and little translational research is carried out to feed the pipeline of applications. We need to take a closer look at the way we translate discoveries from the bench to the population and how we process and integrate evidence. This also implies that more realistic expectations are needed to fulfil the promise of genomics to improve health.

Predictive genomics and personalised medicine as a showcase

The area of predictive genomics is currently undergoing substantial change, with a more rapid translation of scientific evidence into products and a sharp decrease of sequencing costs are predicted. With emerging fields like epigenomics and systems biology, we face challenges both within the framework for research and the regulatory response to the emerging knowledge. Ultimately, the policy impact is higher than expected 5 years ago1 as the merger of diagnostics and pharmaceuticals (theranostics) and the individual risk modulation (in particular in nutrigenomics and toxicogenomics) impact market authorization and market regulation systems currently used in Europe and North America. The personalization of risk prediction, drug response and the understanding of the aetiology of diseases change the role of citizens (in the direction of prevention and self-responsibility) and require increasing emphasis on health literacy, potentially widening health and socio-economic gaps in society. As the new genomics requires an integration of data from various sources, it also questions current data infrastructures and data protection regulations in Europe and beyond. The current re-cast of the European Data Protection Directive will be a Litmus test that will give an indication to what extent the need for data integration and linkage in a secure environment is seen as a priority. Important policy tools such as the precautionary principle or the ‘Health in all Policies’ approach, as defined in Art 168 of the Treaty, may have to follow this trend, creating new legally enforceable approaches.

The current perception is that genome-based knowledge creates expectations, which cannot be fulfilled on the short run. There are large differences in the application of genome-based technologies. While research in certain diseases progresses rapidly, in particular cancer2,3 and infectious diseases (pathogen genomics), less progress is visible in cardiovascular and neurodegenerative disorders. The field of cancer is, by far, the most advanced for genomic applications. It has been acknowledged years ago that each tumour is unique and we do not find two patients with identical cancers in Europe.4 The combination of activated signalling pathways will demand personalized diagnosis and treatment, depending on the level of metastasis and the effectiveness of pharmaceuticals. This makes it difficult to apply traditional procedures of market authorization to ensure safety and efficacy of the drug ‘cocktail’. Data on the different ingredients of the ‘cocktail’ do not provide insights into the interactions of the components and the response of the patient. While researchers gain rapid insights into genes, they struggle to combine the genetic knowledge with environmental factors such as pollution, lifestyle and epigenetic inheritance to understand normal and disease processes and find targets for effective interventions. Evidence standards for a new way of doing research are needed; otherwise we might not close the translational gap between basic and clinical research.

While stakeholders share the scientists’ optimism with regard to the generation of genome-based knowledge, many are reluctant to predict a widespread application in practice due to the complexity of the emerging knowledge and the lack of preparedness in medicine and public health. In USA, the EGAPP working group, an independent multidisciplinary panel that examines the evidence around emerging genomic applications (http://www.egappreviews.org/), has concluded that for several tests they evaluated at so far, an appraisal is not possible due to insufficient evidence The real take-home message might be that in a personalized medicine setting, our traditional tools for the assessment of technologies do not seem to work anymore. Clinical trials may be more difficult to construct if we assume that there is obvious heterogeneity in patient response to drugs and other medical technologies.

To conclude, we believe that emerging genome-based knowledge requires a more updated policy making and knowledge management processes. A real paradigm shift in public health and medicine still depends on the willingness to restructure policies/approaches and the ability to train practitioners from various professions. Public health therefore needs to develop a pre-emptive approach towards expected structural changes in prevention and care. International initiatives such as GRaPH-Int and European projects such as PHGEN, ENGAGE and EuroGentest are facilitating this process by convening all relevant stakeholders. The P4 medicine vision of Hood5 is not around the corner yet, but there is a clear urgency to prepare health care systems and policy makers now.


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