Reporting results of diagnostic NGS-based testing - user-centered redesign of the clinical report.

Abstract

1AO_SCPLOWBSTRACTC_SCPLOWThe transition of next-generation sequencing (NGS) from the research environment to clinical diagnostics has proven difficult, with exome and whole genome sequencing at various stages of implementation in Nordic hospitals. The clinical genomics report details key findings from the interpretation of NGS data and represents the core hand-off between specialized clinical genomics laboratories and the broader healthcare community. However, these text-heavy reports can be difficult to read: critical information may be scattered around the report, and vital information such as limitations of the test may not always be present. Misunderstanding of results, limitations or key findings can lead to incorrect therapeutic decisions, directly impacting patient management. We applied the principles of user-centred design to redesign clinical reports to respond to user needs, while also incorporating existing recommendations and guidelines. We performed several rounds of needs gathering, first with producers of clinical genetics reports, then with clinicians with various level of experience in genetic testing. Based on the insights from a workshop and interviews, we created prototypes of reports which were evaluated in comparison to a set of simulated reports representing those currently in clinical production. Our results showed that the majority of evaluators found the redesigned reports to be clearer and easier to process, demonstrating the value of this approach.