Genomics in nephrology: identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach

BackgroundGenomic conditions in nephrology often have a long lag between onset of symptoms and diagnosis. To design a real time genetic diagnosis process that meets the needs of nephrologists, we need to understand the current state of the diagnostic process of genomic kidney disorders, barriers and facilitators nephrologists experience, and identify areas of opportunity for improvement and innovation. MethodsQualitative in-depth interviews were conducted with 16 nephrologists from 7 health systems across the US, with variable levels of experience with genetic testing and diagnosis. Rapid analysis identified themes in the interviews. Themes were then used to develop service blueprints (visual diagrams representing relationships between components of a service) and process maps depicting the current state of genetic diagnosis of kidney disease, helping visualize the current state, along with associated barriers and facilitators. ResultsThemes from the interviews included the importance of trustworthy resources, guidance on how to order tests, and evidence-based recommendations on what to do with results. Barriers included lack of knowledge, lack of access, and complexity surrounding the case and disease. Facilitators, based on current genetic testing services used by participants, included good user experience, straightforward diagnoses, and support from colleagues. DiscussionThe current state of diagnosis of genetic kidney diseases is suboptimal, with information gaps, complexity of genetic testing process, and complexity of disease impeding efficiency. This study highlights opportunities for improvement and innovation to address these barriers and empower clinicians who treat nephrological disease to access and use real time genetic information.