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Germany risks lagging behind in genomic medicine

Interview with Prof. Dr. Michael Krawczak, Jürgen Eils, and Dr. Roman Siddiqui

On 10.12.2018, scientists from various disciplines will convene in Berlin to discuss current developments and challenges in genomic medicine. The workshop, entitled "OMICS in Medical Research", will be held for the second time by the Technology and Methods Platform for Networked Medical Research (TMF). In an interview, Prof. Dr. Michael Krawczak, University Hospital Schleswig-Holstein Campus Kiel, Jürgen Eils, University Hospital Heidelberg, and Dr. Roman Siddiqui, TMF e. V. explain why Germany needs a national strategy for genomic medicine in order not lag behind internationally.

Prof. Dr. Michael Krawczak
Where does genomic medicine stand today?

Michael Krawczak: Genomic medicine is developing rapidly and is already achieving great success in various areas. In particular, it is now indispensable for the management of cancer treatment and for the diagnosis of rare diseases, the latter being mainly caused by defects in individual genes. In cancer, sequencing of the entire genome (Whole Genome Sequencing, WGS) is becoming increasingly important to allow tailoring of the selection of drugs to the genetic characteristics of individual tumors. This genome-based kind of patient stratification opens up much more specific and efficient treatment options than before.

Jürgen Eils: There are currently a number of initiatives worldwide to integrate genomics into medical care. The pioneer in Europe is England, where the "Genomics England" project was launched in 2012, where around 100,000 genomes - predominantly linked to cases of cancer and rare diseases - have already been sequenced. With "All of Us" and "France Médecine Genomique 2025", the USA and France have launched similar programs. In Germany, we currently sequence entire genomes in the five-figure range; in other countries, this is planned soon to happen in the millions. Unfortunately, there are no comparable initiatives in Germany, which is why Germany is currently in losing ground in genome medicine.


Dr. Roman Siddiqui
Why is it important for Germany to invest more?

Roman Siddiqui: In England, the National Health Service (NHS) recently decided to introduce WGS into routine genetic diagnostics. Every patient can have their genome sequenced. This reflects the realization by the NHS that WGS is needed for the diagnosis, prevention and treatment of diseases in the sense of personalized medicine. All these activities are accompanied by enormous training efforts geared at implementing a "genomic habitat" in future clinical routine in the national health sector. In England (as in many other countries), the comparative analysis of a large number of "normal" and disease-causing genetic variations is thought to become a major driver of scientific and technological innovation.

Michael Krawczak: In Germany, genomic medicine is still a long way from the situation in England. Although genome research in Germany is very well positioned in some top institutions, it does not find its way into a broad application in patient care. This is where we need to start: We need genomic medicine that arrives "at the bedside" and that works in close cooperation with research. In this context, many colleagues hope for the "Decade against Cancer" recently announced by the BMG and the BMBF, which is intended to strengthen cancer therapy and prevention and could thus act as a driver of genomic medicine in Germany as well.

Jürgen Eils
International initiatives such as the Global Alliance for Genomics and Health (GA4GH) or ICGC ARGO demonstrate how the challenges of genomic medicine can be met. What role does German science play in these initiatives?

Jürgen Eils: Germany is only rudimentarily represented, or no longer represented at all, in these science-driven international initiatives. Our basic genome medical research was much more visible internationally in the past. However, despite significant contributions to earlier initiatives such as the International Cancer Genome Consortium (ICGC) or the International Human Epigenome Consortium (IHEC), we are currently forfeiting the opportunity to build up important know-how that will be required for future innovations.

What needs to be done to strengthen genomic medicine?

Michael Krawczak: In Germany, there is a handful of top institutions that support clinical sequencing, for example, in cancer or rare diseases. But this is by no means enough! We need a comprehensive national strategy that puts genomic medicine on a broader basis. All decision-makers must recognize that there is an enormous demand in this field. University and non-university institutions, patient associations, professional societies, funding agencies and politicians alike are under a joint obligation to work towards overcoming the present obstacles.


Wiebke Lesch conducted the interview.


Until 2017, Jürgen Eils was head of data management at the German Cancer Research Centre (DKFZ), where he established the central genome repository. Since 2018, he is heading the Omics Data Integration Center (Omics DIC) as part of the HiGHmed medical informatics initiative. He works at the Health Data Science Unit of Heidelberg University Hospital and has another affiliation at the Charité.

Professor Dr. Michael Krawczak has been Director of the Institute for Medical Informatics and Statistics at University Hospital Schleswig Holstein, Campus Kiel, since 2001. His research focuses on genetic epidemiology and population genetics, bioinformatics, theoretical biology and ecology. He is the founder and scientific advisor of the "PopGen" biobank project, which was initially funded by the BMBF within the NGFN. He has been a member of the TMF board since 2006 and has been acting as chairman since 2011.

Dr. Roman Siddiqui has been a scientific advisor to the TMF since 2010. He is currently coordinating the accompanying project of the BMBF initiative "Model Registers for Health Services Research". He is a trained microbiologist and worked in disease-oriented human genome research within the framework of DHGPII and NGFN from 2001 to 2010.

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