Model Project Genome Sequencing
In recent years, the BMG's National Strategy for Genomic Medicine has ensured that genome medicine has gained considerably in importance in Germany.
The term ‘genome’ refers to a person's entire genetic information. ‘Genomic medicine’ is a medical field that deals with the medical application of knowledge about the human genome. Essential to this are technologies such as genome sequencing, which can be used to analyse a person's entire genetic material. This process allows diseases to be diagnosed more and more effectively and therapies and preventive measures to be customised to individual genetic characteristics. For patients, advances in genomic medicine mean a considerable improvement in health and quality of life.
Further information on genomic medicine in Germany can be found at the at the Federal Ministry of Health (Bundesministerium für Gesundheit).
Thanks to the National Strategy for Genomic Medicine, researchers now have access to extensive data sets from genome sequencing and corresponding clinical data for the first time. This data provides a valuable basis for the development of new therapies, the personalisation of treatment approaches and research on the genetic causes of diseases.
Model project genome sequencing
The model project genome sequencing (official name: “Model project for comprehensive diagnostics and therapy finding using genome sequencing for rare and oncological diseases” in accordance with § 64e SGB V) forms the core of the national strategy for genome medicine and will help to integrate genome medicine into healthcare in Germany.
To this end, the German Bundestag passed the Act on the Further Development of Healthcare in July 2021. It provides the legal basis for the model project by enabling the detailed examination and treatment of patients with rare diseases and cancer using genome sequencing. To prepare and design the content and structure of the project, we worked with experts from the genomDE initiative.
The model project for genome sequencing (MV GenomSeq) examines individuals with rare diseases or cancer. The aim is to identify genetic changes that could potentially cause these diseases. This enables an early and more precise diagnosis as well as customized treatments that are individually tailored to the genetic characteristics of the patients.
The clinics collect both clinical and genomic data on their patients. This data is used for various purposes: In addition to the diagnosis and treatment of those affected, the aim is also to check the quality of medical treatment and evaluate the model project. Furthermore, the data will also be used in scientific genomic research, e.g. to uncover new connections between genetic changes and the development of disease.
The platform of the model project genome sequencing, which is operated by the Federal Institute for Drugs and Medical Devices (BfArM) as the platform provider, plays an important role in this process. The data platform is structured in such a way that clinical data is stored in so-called clinical data nodes and genomic data in so-called genome data centers. This division of data storage contributes to data security. The clinical data nodes are located at various university hospitals in Germany, while the genome data centers are operated by qualified scientific research institutions. The processing and provision of data is carried out by so-called data services. Clinical data nodes, genome data centers and data services are approved and controlled by the platform provider.
In addition, all genomic and clinical data is stored pseudonymously, which means that it cannot be directly linked to a specific person. A trust center at the Robert Koch Institute (RKI) in Berlin was set up specifically for pseudonymization. It also ensures that the data can only be linked under highly secure conditions.
Clinical and genomic data are made available for both patient care and research. The data is made available upon request to the platform provider and is provided by data services. It is subject to strict controls and meets the highest security standards.
The BfArM is responsible for the operation of the data platform and is setting up an office for this purpose.
The tasks of the BfArM within the framework of the model project include
- approving and monitoring the clinical data nodes, genome data centers and data services
- providing data to authorized users upon request and making it accessible
- establishing and maintaining a public application register with information on the applicants, authorized users, the projects for which data have been applied for and their results.
In performing its tasks, the BfArM is supported by an advisory board and a scientific committee.
Laws and regulations
Gesetz zur Weiterentwicklung der Gesundheitsversorgung (GVWG) (German)