Why precision medicine must be there for everything – and what remains of the pandemic.
Genome researcher Prof. Dr. Alexander Dilthey examines how advances in genome sequencing technology (Next Generation Sequencing, or NGS) can be harnessed to generate biological-medical knowledge.
In an interview with Dr. med. Markus Neumann (Horton International Germany), he explains future scenarios in the pandemic occurrence of infectious diseases and the opportunity to revolutionise not only the fight against multi-resistant hospital germs through genome sequencing.
Markus Neumann, MD:
The importance of genomic infectious medicine was demonstrated on a broad scale by the Corona pandemic. In a pilot project at the University of Düsseldorf, you and your team were able to uncover clusters of infection of the virus through NGS sequencing, i.e. with the help of a rapid and efficient analysis of the genetic material, and thus improve the tracing of infection chains.
Prof. Dr. Alexander Dilthey:
Genome sequencing can be used to unravel infection chains more effectively.
In the pandemic, we were able to gain a completely new perspective on the spread networks of pathogens. This is an insight that will be strategically decisive in the future. The biggest mistake would be to assume that things could not get worse – after the pandemic is before the pandemic. However, with the new NGS technologies, we are better prepared.
Markus Neumann, MD:
The corona virus SARS-CoV-2 was identified within only a few weeks. This is the fastest any virus has ever been identified, which is like a technological marvel.
Prof. Dr Alexander Dilthey:
With the identified genome sequence of the virus, it was possible to produce the vaccine. This worked phenomenally well in Germany and America. The fact that we had a vaccine so quickly after the virus appeared is directly due to the progress in genome sequencing. Nevertheless, during the pandemic there was a strong focus on the established diagnostic methods, less on the innovations in genome sequencing.
Markus Neumann, MD:
The microbiome, that is the totality of all microorganisms that colonise humans, is known to have a complex influence on the immune system, metabolism and hormone system. How useful would it have been to include its mechanisms of action in the Corona pandemic?
Prof. Dr. Alexander Dilthey:
In terms of individual personalised medicine that leverages data generated from sequencing, this would indeed have been enormously forward-looking. It is possible that the microbiome has an influence on the course of corona diseases, or the probability of becoming ill.
The new sequencing capabilities open up a world in which science can understand the microbiomes even better in causal terms, for example, what role fungi play in interaction with bacteria. Already today, the microbiomes are part of the focus in cancer immunotherapy. And we know that they have to be seen in connection with the development of infectious diseases.
Markus Neumann, MD:
What knowledge will remain?
Prof. Dr Alexander Dilthey:
The central insight beyond the pandemic is that it would be important and sensible to integrate genome sequencing into standard diagnostics. We have to get there. Take sepsis (“blood poisoning”), for example. In the case of this complication, which can arise in a wide variety of infectious diseases, the decisive question is which pathogen is the cause and how best to combat it. Traditionally, the result of a blood sample is only known after twelve to 48 hours. This wastes valuable time, because every hour of delay increases mortality. In the new world of genomic infection medicine, the entire genetic material from the blood would be sequenced. With NGS technology, the results can be available after only six hours. Moreover, in some cases the generated data also provide information about antibiotic resistance. Targeted therapy could thus be initiated much more quickly and efficiently. I also see a revolution in this respect in the fight against multi-resistant hospital germs. Here, routes of spread within a hospital – and also between different hospitals or doctors’ practices – can be verified quickly and appropriate measures can be initiated.
Markus Neumann, MD:
The latest sequencing technologies will also revolutionise countless fields of research in the life sciences. Could there soon be a kind of construction or module kit for clinical routine to individualise treatments?
Prof. Dr. Alexander Dilthey:
With NGS diagnostics, there is indeed a revolutionary tool available for the treatment and prevention of diseases that can take into account individual differences in genes, lifestyle, but also the environment. This approach to precision medicine will make it possible to accurately predict which treatment and prevention strategies will be successful for a given disease and in which groups of people. Pandemic infectious events in their early stages can be diagnosed with certainty and their spread could be prevented. A “module system” for clinical routine would be quite possible. But there is still a long way to go before that happens. For one thing, data analysis and the interpretation of findings are extremely demanding. Without software and algorithms, the data cannot be deciphered. It also requires deep subject matter expertise. One of the biggest challenges is actually data management, i.e. the storage, security and analysis of the huge amounts of data. We also need quality standards as well as ethical and legal guidelines, such as how to deal with the expected side findings in comprehensive genome analyses. Furthermore, the question of cost coverage by health insurers has not yet been clarified. However, the first steps towards the broad application of NGS technologies have been taken and it is hoped that they will soon find their way into routine medical diagnostics.
Markus Neumann, MD:
Where are there obviously still deficits?
Prof. Dr. Alexander Dilthey:
We have to work worldwide to increase sequencing capacity. The future belongs to networked diagnostics, where the most diverse medical technology systems exchange data with each other, whether antibody data or the genetic profile of a patient. In terms of the possibilities of data integration, there is still a lot of room for improvement; the Anglo-Saxon countries are already much further ahead in this. What we need are modern concepts for data protection. The goal is easier translation (“from the laboratory bench to the bedside”), i.e. new research findings should be evaluated more quickly for their clinical usefulness and safety and made available to patients.
Markus Neumann, MD:
Horton International Germany fills key positions to support this translation up to the marketing of new drugs and solutions. The manufacturers of pharmaceutical products and medical devices, whether medium-sized companies or long-established global players, are exposed to enormous quality and efficiency pressure – the competition is huge and the pressure to innovate is high. Against this background, the battle for talent is in full swing.
Prof. Dr. Alexander Dilthey:
In the USA and Great Britain, pharmaceutical and biotech companies are extremely attractive employers, and a large proportion of graduates in the corresponding disciplines aspire to work there. Artificial intelligence in the development of new medicines, interdisciplinary work and big data volumes that deliver usable knowledge all represent a great incentive for young talent.
The pharmaceutical industry in Germany can only catch up here. Research departments need data scientists and bio-data scientists with an affinity for and understanding of personalised medicine, algorithms and empirical data. Empirics, data integration and medicine are increasingly converging in the development of new medicines. If these skills are not available within the company, they must be brought on board through collaborations with orthogonal biopharma players or academic institutes. For a strategic positioning in a highly complex knowledge ecosystem like this, cooperations are simply indispensable. Otherwise, the worst case scenario is that you lose out internationally.
“Next Generation Sequencing is the only logical step towards modern precision medicine.”
Prof. Dr. Alexander Dilthey
Genome Researcher
Prof. Dr Alexander Dilthey, Professor of Genomic Microbiology and Immunity at Heinrich Heine University Düsseldorf. Main focus: Bioinformatics, Big Data analytics and sequencing. Company foundations in Oxford/UK and Germany. The distinguished genome researcher was a sought-after expert during the Corona pandemic. At the Düsseldorf University Institute for Medical Microbiology and Hospital Hygiene, he is leading a highly regarded coronavirus sequencing project. With the genetic fingerprint, chains of infection can be traced (“corona screen search”).
Markus Neumann, MD, Business Unit Head Lifesciences & Healthcare. – Horton International Germany. Several years’ experience as a clinical physician. Senior manager in the life sciences and healthcare sector for renowned companies in Germany and abroad. Board member of the German Healthcare Alliance at the Federation of German Industries (BDI) until 2019
FASTER, MORE EFFICIENT, CHEAPER
Next Generation Sequencing (NGS) refers to improved technologies for DNA sequencing. A complete human genome can be sequenced within one day. In contrast to classical sequencing (according to Sanger), several hundred million fragments in a sample are sequenced simultaneously. Sequence changes such as mutations are detected in the process. Time and costs are comparatively much lower.
For research purposes, in clinical genetics, microbiology and oncology, NGS technologies have already been used for several years. Their relevance in the early detection and control of infectious diseases and pandemics as well as in oncology is assured.
