Recommendations for action Successfully implementing GenomDE - fully exploiting its potential

Together with BioDeutschland, the VDGH proposes five recommendations for action to further develop the genome sequencing pilot project in accordance with Section 64e SGB V.

Executive Summary

The biotechnology, diagnostics and life science research industries welcome the genome sequencing model project in accordance with Section 64e SGB V, which was passed in 2021 with the Act on the Further Development of Healthcare (GVWG) and will be introduced into the German healthcare system on January 1, 2024. On the one hand, this will enable patients to benefit from state-of-the-art genomic medicine and receive needs-based treatment. On the other hand, high-quality genome data can be developed and made accessible in Germany, making Germany more internationally competitive and attractive as a biotech, pharmaceutical, life science and diagnostics location.

However, the innovation potential of the pilot project and the overarching genomDE project could be better exploited: On the one hand, through greater inclusion of outpatient service providers and, on the other, by involving technologically important players in the project's decision-making processes: the industrial healthcare sector. In its coalition agreement (2021, p. 24), the traffic light coalition also recognized the innovative healthcare industry as the basis for further medical progress - this must not be left out of any project. In a participatory healthcare system in which silos are broken down, innovative concepts such as the genome sequencing pilot project should not be implemented without the involvement of the economic drivers of innovation.

In order to derive the greatest benefit from the project, the data obtained should also be made available in a legally compliant manner for the optimization and further development of medical products and drugs. For this reason, the planned legislation on the use of health data and register data should enable all stakeholders, i.e. including the industrial healthcare sector, to conduct research on the data for specific purposes.

Introduction

Genomic medicine makes it possible to make diagnoses faster and more precisely and supports doctors in selecting the optimal preventive measures and therapies. This is referred to as personalized medicine. Genomic medicine is already being used successfully in Germany today. Well over 6,000 different rare diseases, such as various congenital immunodeficiencies, can now be diagnosed with the help of genome sequencing. Genetic tests are also increasingly being used in the selection of therapies. This is because a person's individual genetic make-up, as well as individually acquired mutations (genetic changes) in a tumor, can determine whether a drug therapy is effective or not, or whether a therapy needs to be adjusted to avoid undesirable side effects. Even with some of the rare genetic diseases, the effects of the genetic mutations causing the disease can already be treated in a targeted manner. Around 200 drugs are currently available for this purpose and hundreds of active substances are currently undergoing clinical trials. The healthcare infrastructure has also improved considerably in recent years. In addition, Germany has a highly innovative diagnostics, life science research and biotechnology industry that provides high-performance and highly sensitive analysis methods in the field of genetic diagnostics. The methods for the high-throughput analysis of DNA (next generation sequencing), which are frequently used in modern genetic diagnostics to clarify genetic diseases and form the basis for the model project, are constantly being optimized and are thus achieving improved precision and speed while at the same time reducing costs. This creates the basis for the broad application of these and similar technologies in standard care.

The model project in accordance with Section 64e SGB V thus makes a significant contribution to improving care in the area of rare and oncological diseases and is therefore to be welcomed in principle. And true to the motto "Data helps to heal", the genomic data obtained from the pilot project also represents a major enrichment for medical research and future healthcare in Germany. This strengthens Germany as a location for research and innovation and protects against expertise migrating to other European countries or the USA. However, we see potential for improvement in the current structure of the pilot project and are committed to the implementation of the following measures with a view to rapid, optimal, nationwide patient care.

Recommendations for action

Expand the circle of service providers

All sequencing technologies require extensive expertise in application and bioinformatic analysis. Molecular diagnostic laboratories in the outpatient sector based in Germany have this expertise, as do university hospitals. In order to maintain this globally unique and high-quality laboratory infrastructure, the highly competent and quality-assured outpatient molecular diagnostics laboratories should also be integrated into the model project. To this end, the quality criteria for narrowing down the eligible service providers must be defined in such a way that medical and technological expertise in sequencing technologies, capacities and connectivity to existing hospital structures are at the forefront. This will not only improve patient care across the board, but also ensure that molecular diagnostic expertise develops uniformly, regardless of sector boundaries.

Strengthening innovative strength through the participation of private sector players

The current steering committee consists of 14 national, predominantly academic initiatives and alliances from the fields of oncology, rare diseases, patient representatives and the Medical Informatics Initiative, representatives of university hospitals, networks for genomic medicine and public research (Fraunhofer, etc.). However, the early involvement of partners from private research is essential for the optimal interplay of innovation, technology development and introduction into healthcare. In addition to an excellent academic landscape, Germany in particular is home to efficient research and development centers of private sector players. Collaborations such as public-private partnerships (PPPs) can enable faster translation, for example in the areas of data standards, quality standards, interfaces, sequencing technologies and AI. We therefore advocate the establishment of PPPs in the context of genomDE in order to ensure that the innovation potential is fully exploited. Against this backdrop, the expertise of the industrial healthcare sector must be given greater consideration and integrated into one of the advisory bodies. This is because private stakeholders make an important contribution, for example in the joint further development of standards for data formats and interoperability features. They also ensure connectivity with industrial research, which guarantees that innovations reach patients as quickly as possible.

Increasing the capacity for sequencing and storing genome data across Europe

In January 2020, Germany became the 21st EU member state to join the EU genome initiative "1+ Million Genomes "1 , which aims to sequence over one million genomes and thus improve healthcare. In the case of rare diseases in particular, the regional or national patient numbers available are often not sufficient for meaningful scientific studies. But the same applies to other diseases: the more data available, the better and more reliable the findings. The European initiative therefore aims to systematically pool data across Europe - in strict compliance with data protection and data security.

Providing standardized access to medical data throughout Germany

Clear and reliable framework conditions are needed so that health data can be used together in confidence. This includes uniformly regulating the rights for the use of anonymized health data nationwide in compliance with data protection and data security requirements and also granting access to the genome data resulting from the pilot project together with the associated clinical data, under strictly regulated conditions, to companies in the industrial healthcare sector. The announced Health Data Utilization Act must lay the foundation for this so that the data from genomDE can also be used in confidence by industry for biopharmaceutical and biotechnological research. This is the only way to continuously optimize innovative medical products and drugs, which accelerates development cycles and significantly improves healthcare for patients.

Establish a German reference genome database

An expanded German reference genome database that reflects the composition of the population is a powerful tool for understanding the biological function of genetic variation within the country. Data on population frequencies of genetic variants (alleles) have great potential to improve variant interpretation, so that the rare variants that are more likely to be the cause of genetic disorders can be distinguished from the millions of common and largely benign variants that are present in every human genome. Most existing population databases do not provide phenotypic information on the individuals included and are rarely a collection of healthy individuals. This is a major gap in Germany. With the NAKO Health Study2 and the Hamburg City Health Study (HCHS)3 , Germany has access to such cohorts and thus the best prerequisites for collecting such data and continuously expanding it in the course of the model project. With the establishment of a national reference genome database, Germany can become a leading country in genomic medicine.

Contact persons

Dr. Carolin Schächterle
Head of the Life Science Research Department
Tel: +49 30 200599-46
schaechterle@  avoid-unrequested-mailsvdgh.de

VDGH e. V.
Neustädtische Kirchstraße 8
10117 Berlin

The Association of the Diagnostics Industry (VDGH) is a trade association representing the interests of more than 120 companies operating in Germany with a total turnover of 6.8 billion euros in 2022. They manufacture examination systems and reagents for the diagnosis of human diseases, which generate a turnover of more than 3.5 billion euros, as well as instruments, reagents, test systems and consumables for research in the life sciences, which generate a turnover of 3.3 billion euros.

Denis Peikert
Policy Officer
Tel: +49 30 2332164-33
peikert@  avoid-unrequested-mailsbiodeutschland.org

BIO Deutschland e. V.
Schützenstraße 6a
10117 Berlin

The Biotechnology Industry Organization Germany e. V. (BIO Deutschland) and its more than 340 member companies have set themselves the goal of supporting and promoting the development of an innovative economic sector in Germany based on modern biosciences.

In a nutshell: The Association of the Diagnostics Industry (VDGH)

As a trade association, the German Diagnostics Industry Association (VDGH) represents the interests of more than 100 companies operating in Germany with a total turnover of 6.8 billion euros in 2022. They manufacture examination systems and reagents for the diagnosis of human diseases, which generate a turnover of more than 3.5 billion euros, as well as instruments, reagents, test systems and consumables for research in the life sciences, which generate a turnover of 3.3 billion euros.

www.vdgh.de