As part of our new series ‘Research in the time of a pandemic’ we are talking to researchers and other key stakeholders involved in the battle against COVID-19 across the globe to understand better the work they are doing, how it contributes to humanity’s collective efforts to find a solution, as well as deciphering all aspects of the research underway to understand it for what it is, a human endeavour.
In our first interview, we talk with Dr. Emmanouil Dermitzakis, Professor of Genetics at the University of Geneva, Director of the Health 2030 Genome Center in Switzerland and Chairman of the National Council for Research, Technology and Innovation in Greece, and one of the key figures in the new epidemiological research project funded by Greece in response to the SARS-CoV-2 health crisis.
First of all, clinical researchers in Greece had and have a central role in the measures decided via a task force that advised the government at all steps of the crisis since the beginning (February). At a second level, research infrastructures and know-how is being deployed for the development of extra testing capacity as well as development of research projects and clinical trials both in University Hospitals and Research Centers around Greece. Greece did a spectacular job controlling the virus!
Most of our research projects focus on better understanding the variability of manifestation of symptoms as a result of viral infection, the specific mechanisms that mediate severe outcomes and the possible interventions. The key challenge is the ability of the health care system to simultaneously care for the patients while supporting sample collection and clinical data availability to the researchers to advance the projects. The biggest opportunity is that in such extreme conditions, we are observing the development of infrastructures and means of communication in short time that previously would have taken months or even years.
"...in such extreme conditions, we are observing the development of infrastructures and means of communication in short time that previously would have taken months or even years."
The project has two key aims. The first one is to expand the testing capacity in Greece by implementing protocols that are not only easily expandable to research labs but also use basic reagents that will allow minimal dependence from the international market. The second and biggest aim is to assess how the genetic profile of a patient in combination with the viral genome variability contribute to the differential clinical outcomes of COVID-19 patients. This study will be done in 3,500 patients from Greece.
It is obvious that computer science and AI solutions are central to these efforts. Large amounts of genomic and clinical data are being collected and interpretation of such data to inform clinical decisions and learn about biological mechanisms requires careful and deep data analysis. Fortunately, Greece has some excellent groups that have emerged the last few years, even in the period of the economic crisis, and can play a key/leading role in this area for data produced in Greece but also globally.
Communication of science in Greece has always been sporadic and heterogeneous in quality. The last two months, as a result of the crisis, scientists are being called much more in public debates to explain complex themes of the biology of the virus, clinical characteristics of COVID-19 and procedures and goals of research projects. In addition, there are many articles on popular newspapers about the importance of science and research and the value of research scientists in addressing real life problems. It is my impression that this crisis will have left an enormous footprint of science appreciation and hopefully a push for investment in research.
"It is my impression that this crisis will have left an enormous footprint of science appreciation and hopefully a push for investment in research."
Absolutely! I feel that even scientists outside of the immediate field of their expertise can communicate the principles and processes that researchers follow. Some of the key social principles of leading research, such as meritocracy, patience and perseverance, acceptance of knowledge limitations can be applied seamlessly to everyday life and can have very positive impact.
"Some of the key social principles of leading research, such as meritocracy, patience and perseverance, acceptance of knowledge limitations can be applied seamlessly to everyday life and can have very positive impact."
The research community has the expertise and the means to filter the quality and relevance of information and convey to the public what is worthy of attention. In fact, more than ever, it is the obligation of the research community to be vigilant and vocal and prevent such misinformation from spreading so widely that influence public perception and result in difficulty of acceptance of mitigation or other measures taken by the governments. This of course is even more important, when misinformation relating to non-credible or dangerous “treatment” solutions, or inferences about the evolution of the pandemic are being spread by individuals in “credible” positions.
"...it is the obligation of the research community to be vigilant and vocal and prevent such misinformation from spreading so widely."
The WHO is in principle a very important body that has the potential to make a huge difference in situations such as this pandemic. However, it is my impression that the increased level of bureaucracy, political interferences and the need for consensus in decisions has crippled the ability of WHO to effectively coordinate the efforts of many countries, which is so urgently needed, to fight this pandemic. After this pandemic is over we need to rethink the role of WHO and ensure its stronger position in coordination of health systems and public health efforts around the world.
This pandemic has taught us that we are much more relevant than we thought and that the repurposing of our efforts to address such problems is possible and can be rapid. But what it has also taught us is that the value of basic knowledge of physical phenomena cannot be assessed by what is relevant now, and we need to advance and invest even more on what is called curiosity-driven research.
"...we need to advance and invest even more on what is called curiosity-driven research."
On the side of policy, it is pretty obvious now that strong research infrastructures, research communities and well organized accumulated knowledge can be key in responding to such emergencies. After this, governments and large organizations need to reevaluate not only their funding on research but also their funding on creating knowledgebases, databases and data repositories. We cannot afford any more to treat research as an afterthought or side activity of our society.
"We cannot afford any more to treat research as an afterthought or side activity of our society."
One of the biggest challenges that researchers face is the push of funding agencies to what is called “applied or translational research”. I am not against translating research to applied and useful products or services for society. But if we put too much emphasis on translation and forget the investment on making discoveries based on curiosity, pretty soon we will run out of things to translate.
This is obviously paramount. As research on the virus is global, the value of sharing data not only allows comparison and validation of results in different contexts and health systems, but also accelerates the process of discovery as people can pick up where others left off. Manuscript archives (e.g. biorxiv, medrxiv) play a key role in this process. But a word of caution here: as we start to share more via these manuscript archives, we need to develop the mechanisms to evaluate and filter scientific information in real time, as the quality of manuscripts is quite variable. And we need to do this now because the pandemic is evolving and solutions have to be found in real time. Any investment we make now on this will leave a legacy of major structures and processes for the future.
"Any investment we make now on this will leave a legacy of major structures and processes for the future."
In such global problems global cooperation is essential. In some areas of research we have established strong international links ready to be mobilized in real time. For example, the International Common Disease Alliance (ICDA), a global consortium to use genetics of common disease to understand mechanisms and translate to medicine, was mobilized to link COVID-19 host genetics projects around the globe. But not all research fields have developed such international links and, in particular, there is limited global cooperation is sharing and annotating clinical data.
The role of publishers is also very important. First of all, they can help in the accelerated evaluation and publication of scientific results. But they can also provide the forum for scientific debates, especially in a period of isolation, in order to reach conclusions and decide on next steps in a credible context. They can also ensure the multidisciplinary approach needed for the problem.
We are pushing forward. Research has never moved faster and in some ways we all now have an incentive to use all our tools and knowledge to ensure that this disruption has the smallest impact. Making a difference to public health is the main objective now. But we all look forward to normality where every one of us can go back to our favourite scientific question and model.
All our interviews reflect the views and opinions of the interviewees.
Emmanouil (Manolis) Dermitzakis is Professor of Genetics in the Department of Genetic Medicine and Development, University of Geneva Medical School, Director of the Health2030 Genome Center and Chairman of the National Council for Research, Technology and Innovation in Greece. He is member of the executive boards of the Institute of Genetics and Genomics in Geneva (iGE3), vice-chair of the Swiss Personalized Health Network Genomics Task Force, and also member of the Swiss Institute of Bioinformatics. He obtained his B.Sc. (1995) and M.Sc. (1997) from the University of Crete (Greece) and his PhD in 2001 from the Pennsylvania State University in the USA. His post-doctoral work was at the University of Geneva Medical School. He previously was a Senior Investigator at the Wellcome Sanger Institute in Cambridge. He was elected EMBO member in 2014, recipient of the 2017 Bodossakis science award and has been named Highly Cited Researcher by ISI every year from 2014 onwards. He also served as president of the World Hellenic Biomedical Association (2014-2015). His research focuses on the genetic causes of human disease. He has had leading roles in the ENCODE, Mouse Genome Sequencing, the International HapMap, the 1000 genomes and GTEx projects. He has served in the Board of scientific journals such as Science, eLIFE, PLoS Genetics and he is currently the Chief Editor of Frontiers in Genetics. Dr Dermitzakis has also published extensively with Nature, some of his publications include ‘Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation’, ‘A complete tool set for molecular QTL discovery and analysis’, and ‘Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues’ .