genomeDE – National Strategy for Genomic Medicine
Genomic medicine holds the potential to decisively improve the prevention, diagnosis and treatment of certain diseases. The genomeDE strategy aims to give all patients access to these benefits over the long term. Along the way, ethical, regulatory and safety questions must first be clarified. Having laid the legal foundations in 2021, the next step is to build an appropriate data infrastructure.
The fundamental goals and challenges of the genomeDE national strategy for genomic medicine were identified early in 2019. Research has made rapid advances since the first complete sequencing of a human genome in 2003 and has demonstrated that certain patients can greatly benefit from an analysis of their genome sequences. Thanks to genomic medicine, doctors are becoming increasingly skilled at diagnosing and treating diseases as well as instituting individualised preventive measures. Tailored to a person’s individual genetic make-up, this personalised medicine offers major advantages that should be made available to all citizens as soon as possible. At the same time, however, genomic data are sensitive personal data that also allow inferences to be made about close blood relatives. Therefore, data security and the informed consent of those concerned are indispensable and, as such, an integral part of the genome initiative.
Overview of the genomeDE strategy
© Copyright: BMG
An Overview of the genomDE Strategy
When drafting the strategy, the Federal Ministry of Health (BMG) started by facilitating initial research to clarify the prerequisites, goals and possible implementation in Germany. December 2019 saw the presentation of the relevant report “Recherche zu Gestaltung und Betrieb einer bundesweiten Plattform zur medizinischen Genomsequenzierung zur weiteren Verbesserung der Gesundheitsversorgung der Bürgerinnen und Bürger (genomDE)” (“Research into the design and operation of a nationwide platform for medical genome sequencing to further improve citizens’ healthcare”, in German only) containing the first results and recommendations for action.
Then, in January 2020, Germany became the twenty-first EU member state to join the EU’s “1+ Million Genomes” Initiative, which aims to sequence more than one million genomes and thereby improve health care. Especially where rare diseases are concerned, regionally or nationally available patient pools are too small to enable meaningful scientific studies. That same principle also applies to other diseases. The more data available, the better and more robust the results. This is why the European initiative seeks to systematically pool data from across Europe – while strictly observing privacy and data security.
To further push ahead with the development of the National Strategy, the project “Structural Support for a National Genome Initiative of the Federal Ministry of Health (genomeDE)” funded by the European Commission under the structural reform programme (GD REFORM) was launched in July 2020. The programme was designed to support the preparation and implementation of growth-enhancing administrative and structural reforms by mobilising EU funds and technical expertise. At the digital event “National and European Genome Initiatives” in November 2020, the results already achieved and the genomeDE strategy were revealed to the public for the first time. Find out more.
On the path to incorporation into routine patient care, the results of these extensive preparatory efforts focus on three key subject areas. In addition to informing and involving patients as well as setting up appropriate data infrastructures, one priority task must be to clarify the legal prerequisites. When the Act to further develop health care provision (Gesetz zur Weiterentwicklung der Gesundheitsversorgung) entered into force in July 2021, it provided as a first step the legal basis in the form of section 64e of Book V of the Social Code (SGB V) “Modellvorhaben zur umfassenden Diagnostik und Therapiefindung mittels Genomsequenzierung bei seltenen und bei onkologischen Erkrankungen, Verordnungsermächtigung” (Pilot project for the comprehensive diagnosis and therapy identification by means of genome sequencing in cases of rare and oncological diseases, power to issue ordinances)
Since October 2021, the BMG-funded Initiative for the establishment of a nationwide platform for medical genome sequencing – genomeDE – has been designing and setting up a nationwide platform. In cooperation with the pilot project, the platform is to enable wider clinical application of genome sequencing and, as a result, facilitate improved diagnosis and personalised therapy identification. Important cornerstones included designing the corresponding data infrastructure and developing a concept for a secure data processing environment. The project’s goals also included setting up healthcare structures, linking genomic medicine structures and establishing standards in sequencing technologies and the clinical use of these data. Furthermore, the interdisciplinary 14-member consortium, which also included patient representatives, involved patients right from the outset to enhance the project’s acceptance, and address and answer questions regarding not only its benefits, but also its risks at an early stage. Find out more.
In 2024, the concepts and developments drafted by the genomeDE initiative resulted in major amendments to section 64e SGB V regarding the data infrastructure and also contributed substantially towards the contents and structure of the pilot project.
The pilot project on genome sequencing pursuant to Article 64e SGB V was successfully launched in July 2024 and, during its minimum five-year term, will enable the integration of genomic medicine into healthcare in Germany. Genome sequencing can play a critical role in planning treatments for people with rare or oncological diseases. An early and more exact diagnosis can help improve healthcare and enable patients to receive personalised treatment. The platform is operated by the Federal Institute for Drugs and Medical Devices (BfArM) and is subject to the highest of security standards. Clinical data is stored in decentralised ‘clinical data nodes’, while genomic data is stored in ‘genomic data centres’. Before storage, the patient data is pseudonymised by the Trust Centre at the Robert Koch Institute (RKI) so that it cannot be traced back directly to a specific person. The Trust Centre ensures that data can only be linked under highly secure conditions. Since the launch of the pilot project, the first patients have been enrolled, and the numbers continue to rise. The costs of care provided as part of the pilot project are borne by the statutory health insurance funds. To this end, the pilot project’s service providers, coordinated by the Association of German University Hospitals (Verband der Universitätsklinika – VUD), concluded a uniform agreement with the National Association of Statutory Health Insurance Funds (GKV-SV) on 31 July 2024. Shortly afterwards, the private health insurance companies also acceded to the agreement. Provided the patients’ consent, data are not only to be used for their medical care, but also to inform scientific research (secondary use). Find out more.
The aim of establishing data infrastructures to enable secure access to genomic and related clinical data is also being advanced at the European level. November 2022 marked the launch of the European Genomic Data Infrastructure (GDI) project, which is setting up a cross-border network with access to national data collections from 20 different countries and seeks to realise the vision of the 1+Million Genomes Initiative. To this end, the project aims to define uniform technical standards and a common ethical and legal framework that takes account of all national requirements.
Furthermore, the European Commission launched the European Health Data Space (EHDS) in May 2022 with the aim of improving the national as well as cross-border use of health data not only in the provision of medical care, but also in secondary use scenarios such as research. A corresponding EU Regulation entered into force in March 2025. From March 2031, this Regulation will also cover the secondary use of genomic data.