As highlighted in the Nordic Alliance for Clinical Genomics (NACG) report, within medical diagnostics, the synthesis and interpretation of vast quantities of genomic data into concise clinical guidance has been identified as a major challenge in the effective use of next-generation sequencing-based (NGS) diagnostics in regular clinical practice. These data have significant clinical utility and represent a primary source of information when diagnosing rare genetic disorders, diseases and cancer.
The clinical genomics report details key findings, and represents a core-hand off between specialized clinical genomics laboratories and the broader healthcare community. However, the design and procedures for analysing and issuing clinical genetics reports are not standardized. Misunderstanding results, limitations or key findings can lead to incorrect therapeutic decisions, directly impacting patient management.