Fig. 4

WGS from patient to clinical report. The journey of Whole Genome Sequencing (WGS) commences and concludes at the patient’s bedside. Upon the attending physician’s assessment, a WGS analysis is deemed potentially beneficial for offering crucial clinical insights, either through diagnosis or by presenting alternative treatment options. Following comprehensive patient briefing and obtaining consent, a sample of whole blood or tumor is dispatched to the specialized laboratory equipped for WGS. Within the genomic laboratory, the sequence data undergo meticulous analysis by the skilled staff. Putative disease-associated variants are subsequently deliberated with the attending physician and, if necessary, a multidisciplinary team comprising medical professionals from pertinent specialties, forming a Multidisciplinary Team (MDT). Specialties include pathology, clinical genetics, immunology, and more. This collaboration aims to establish a conclusive diagnosis and assess the clinical relevance of identified variants. The conclusive clinical report is then transmitted to the clinical department, where the attending physician shares the results with the patient. This communication includes a comprehensive discussion of the implications for the patient and their condition, along with recommended actions. In instances where the initial analysis fails to pinpoint disease-causing variants, the stored WGS data undergoes periodic re-analysis (inner grey arrow). This ongoing process ensures the continuous integration of new knowledge, potentially leading to a diagnosis without the need for additional hospitalization and sampling. Furthermore, throughout the treatment course, various clinically relevant information, such as pharmacogenetics, may be extracted to enhance the overall patient care experience. Inserts were created with BioRender.com