Model project for comprehensive diagnostics and therapy identification using genome sequencing for rare and oncological diseases in accordance with Section 64e SGB V

The model project for genome sequencing is a nationwide initiative that aims to implement genome medicine in routine care. It can help to significantly improve the diagnosis and treatment of patients with suspected rare diseases or cancer through interdisciplinary assessment and comprehensive genetic testing. As part of the model project, the entire genetic material (genome) of the patients is sequenced in order to identify the genetic causes of the diseases. This will enable an early and more precise diagnosis, the use of personalized therapies and early disease prevention and thus a considerable improvement in the overall health and quality of life of those affected. In addition, an increased risk or predisposition to a rare disease or cancer can be determined in those affected and contribute to early prevention and diagnosis. The model project also includes the collection and linking of genomic and clinical data of the participants in pseudonymized form for the purpose of improving care, individual therapy recommendations, evaluation of the model project, quality assurance and scientific research. A networked analysis of genomic and clinical data from many patients at different locations should provide new insights. Great importance is attached to the protection of personal data and voluntary participation. The data infrastructure is structured in such a way that the clinical data is stored in so-called clinical data nodes and the genetic data in so-called genome data centers, which have already been approved and are monitored by the Federal Institute for Drugs and Medical Devices (BfArM). Any costs incurred as part of the pilot project will be reimbursed for participants with both statutory and private insurance. The legal basis for the pilot project in accordance with Section 64e SGB V is the Act on the Further Development of Healthcare.

1. Examination of the participation requirements by the attending physician as well as information about the model project and the significance and consequences of genome diagnostics
2. First case conference: Comprehensive examination of the diagnostic and therapeutic options by a panel of experts from relevant specialist disciplines. The case is examined from an interdisciplinary perspective and a decision is made as to whether a recommendation for genome sequencing can be made and thus whether participation in the model project can be confirmed.
3. Genome diagnostics (laboratory, bioinformatics, evaluation)
4. Second case conference: Discussion and evaluation in the expert panel to formulate the best possible care, treatment and therapy options for the patient.
5. Discussion of findings and genetic counseling for patients

According to the legal requirements, patients can be included in the model project if they suffer from a rare or difficult-to-diagnose disease for which a genetic cause is suspected and the benefit of genome sequencing for diagnosis or therapy clarification is to be expected. The following criteria must be met:

1. Presence of a medical indication: participation is only possible if there is a clinical need for genome sequencing to be performed, i.e. in patients with unclear, rare or complex diseases in which no diagnosis could be made using clinical and/or genetic examinations as part of standard care. Genome sequencing must also be expected to provide clinically relevant added value for further treatment.
2. Consent of the patient: Patients must give their informed and voluntary consent to participate in the model project and to undergo genetic diagnostics in accordance with the Genetic Diagnostics Act.
3. No previous participation in the selective contract within the last 2 years: No exome sequencing has been carried out within the framework of the selective contract for special care in accordance with Section 140a SGB V for unexplained suspected rare diseases/implementation of measures of the National Action Plan for People with Rare Diseases (NAMSE) within the last two years.

BfArM - Model project genome sequencing

Act on the Further Development of Healthcare (GVWG)

§ 64e SGB V

Genome Data Ordinance (GenDV)