Fig. 3: Complexity of the interaction of various individuals involved in the genome diagnostic process.
From: Genomes in clinical care
Before diagnostic GS can be initiated, the full complexity and dimension of GS have to be communicated with the patient and the referring physician. In unclear and unsolved cases interdisciplinary boards decide whether to extend diagnostics to GS. In the process of sample collection, several caretakers need to be involved besides the clinical geneticist to ensure high-quality samples and complete documentation. Information and consent of patients have to be discussed at the end of the diagnostic process, as to where to store data, and who gets access to it. Using diagnostically generated data for research requires careful consideration of each stage of the diagnostic process. This model could support policymakers in developing novel diagnostic core centers ensuring widespread scientific use of diagnostic data in the healthcare system. KLINSE: Clinical Information Office on Rare Diseases (https://www.medizin.uni-tuebingen.de/de/das-klinikum/einrichtungen/zentren/zentrum-fuer-seltene-erkrankungen-zse/klinse).
