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. 2024 May 20;31(6):1247-1257.
doi: 10.1093/jamia/ocae053.

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

Katrina M Romagnoli  1 , Zachary M Salvati  2 , Darren K Johnson  2 , Heather M Ramey  2 , Alexander R Chang  1   3 , Marc S Williams  2
Affiliations

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

Katrina M Romagnoli et al. J Am Med Inform Assoc. .

Abstract

Background: Genomic kidney conditions 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, barriers, and facilitators nephrologists and other clinicians who treat kidney conditions experience, and identify areas of opportunity for improvement and innovation.

Methods: Qualitative in-depth interviews were conducted with nephrologists and internists from 7 health systems. Rapid analysis identified themes in the interviews. These were used to develop service blueprints and process maps depicting the current state of genetic diagnosis of kidney disease.

Results: Themes from the interviews included the importance of trustworthy resources, guidance on how to order tests, and clarity on what to do with results. Barriers included lack of knowledge, lack of access, and complexity surrounding the case and disease. Facilitators included good user experience, straightforward diagnoses, and support from colleagues.

Discussion: The current state of diagnosis of kidney diseases with genetic etiology is suboptimal, with information gaps, complexity of genetic testing processes, and heterogeneity of disease impeding efficiency and leading to poor outcomes. This study highlights opportunities for improvement and innovation to address these barriers and empower nephrologists and other clinicians who treat kidney conditions to access and use real time genetic information.

Keywords: genomic medicine; human-centered design; nephrology.

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Conflict of interest statement

None declared.

Figures

Figure 1.
Figure 1.
Current state of genetic diagnosis of kidney disease by nephrologists. Yellow stars indicate facilitators to process of genetic diagnosis. Red diamonds indicate barriers to the process of genetic diagnosis.
Figure 2.
Figure 2.
Detailed/zoomed in on genetic diagnosis section of current state of the diagnostic process of genomic kidney disorders.
Figure 3.
Figure 3.
(A) Current state workflow process map prioritizing diagnosis then genetic testing. (B) Current state workflow process map referring to a genetic counselor. (C) Current state workflow process map with inconsistent referrals or genetic testing.
Figure 3.
Figure 3.
(A) Current state workflow process map prioritizing diagnosis then genetic testing. (B) Current state workflow process map referring to a genetic counselor. (C) Current state workflow process map with inconsistent referrals or genetic testing.
Figure 3.
Figure 3.
(A) Current state workflow process map prioritizing diagnosis then genetic testing. (B) Current state workflow process map referring to a genetic counselor. (C) Current state workflow process map with inconsistent referrals or genetic testing.
See this image and copyright information in PMC

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