Promotion of a Pilot Project for the Establishment of a Nationwide Platform for Medical Genomic Sequencing – genomDE

Since 2021, the TMF has been coordinating a consortium of high-ranking experts to develop genomDE, a nationwide platform for medical genomic sequencing, focusing initially on rare diseases (RD) and oncological diseases. In addition to leading medical networks and professional societies, patient associations with specific concerns are also involved in the project. The concept is intended to be implemented as an innovative part of future routine care in Germany. The legally anchored model project for genomic sequencing under § 64e SGB V serves as a Proof of Concept for this. This will lead to essential developments of the genomDE pilot project starting in April 2024.

Activities and Progress in 2021

• Establishment of the coordination office and implementation of necessary committees
• genomDE kickoff event on December 7, 2021
• Discussion on § 64e SGB V and its impact on the genomDE work

Activities and Progress in 2022

• Formation of workgroups and initiation of content-related work
• Cooperation and exchange with stakeholders (GKV-SV, VUD) of the model project under § 64e SGB V
• Validation of the feasibility of the designed genomDE data infrastructure (pilot study)
• Procurement of legal opinions on § 64e SGB V, consent, data control structures, and bioinformatics in the diagnostic process

Activities and Progress in 2023

• Further differentiation of the concept for a federated data infrastructure following the BMG decision for implementation in the model project, and preparation for implementation in a Minimal Viable Product by the platform sponsor, BfArM
• Definition of a shared (minimal) dataset for the start of the model project
• Support in drafting a consent form for the model project, considering the broad consent of the MII
• Communication of the objectives of genomDE in relation to the model project during the legislative revision
• Extensive communication across various channels about the benefits of genomic medicine
• Development of the content for an explanatory film and commissioning its implementation
• Successful symposium on genomic medicine in July 2023

Activities and Progress in 2024

• Significant contribution to the implementation and timely feasibility of the model project through the foundations for the Genomic Data Regulation (GenDV) and creation of guidelines for clinical use, as well as a concept for a register for unresolved cases
• Recommendations for diagnostic minimum standards and quality assurance of sequencing-based diagnostics for somatic and oncological, hereditary oncological diseases, and rare diseases, including clarification of relevant accreditation or certification issues
• Concept for the federated data infrastructure for the storage and use of clinical/phenotypic and genomic data, as stipulated in the 2023 legislation
• Planning for the phased implementation of the model project in collaboration with BfArM and RKI
• Conceptualization of work for the development of secure data processing environments (SPE) for the data infrastructure of the model project
• Development and implementation of an extension of the explanatory film for oncological diseases
• Successful symposium on genomic medicine in July 2024

Outlook for 2025

• Cost-neutral extension of the project until the end of 2025
• Design of a secure data processing environment for genomic and clinical data at BfArM
• 4th genomDE Symposium
• Coordination by the TMF (as of February 2025)

D125-02 genomDE

Project Leader: Sebastian C. Semler (TMF) 
Project Duration: 10/21 – 02/25 
Funding Amount (TMF Share): 2,341,416 €
Funder: Federal Ministry of Health (BMG) 
Funding Identifier: ZMI1-2521DAT80A