Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Abstract

Introduction: Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology.

Methods: An anonymous electronic survey was administered to investigate experience and confidence with genomic tests, perceived clinical utility of genomic services, preferences for service delivery models, and readiness for implementation among nephrologists. Questions were guided by a comprehensive literature review and published tools, including a validated theoretical framework for implementation of genomic medicine: Consolidated Framework for Implementation Research (CFIR).

Results: Responses were received from 224 clinicians, of which 172 were eligible for analysis. Most clinicians (132 [76%]) had referred at least one patient to a genetics clinic. Despite most clinicians (136 [85%]) indicating that they believed genetic testing would be useful, only 39 (23%) indicated they felt confident to use results of genomic testing, with pediatric clinicians feeling more confident compared with adult clinicians (12 of 20 [60%] vs. 27 of 149 [18%]), P < 0.01, Fisher exact). A multidisciplinary renal genetics clinic was the preferred model among clinicians surveyed (98 of 172 [57%]). A key implementation barrier highlighted related to the hospital or organizational culture and/or environment. Specific barriers noted in quantitative and qualitative responses included inadequate staffing, learning resources, and funding.

Conclusions: Our findings suggest support for genomic testing among nephrologists, with a strong preference for a multidisciplinary model (involving a nephrologist, clinical geneticist, and genetic counselor). Broad-ranging interventions are urgently required to shift the current culture and ensure successful implementation of genomics in nephrology, including reducing knowledge gaps, increased funding and resources, disease-specific guidelines, and streamlining of testing processes.

Keywords: genetic kidney disease; genomic implementation; implementation science.

Graphical abstract

Figure 1

Flowchart of survey development and dissemination. ANZSN, Australia and New Zealand Society of Nephrology; VTRG, Victoria and Tasmanian Renal Group. Note: There is overlap between VTRG and Advanced trainee members.

Figure 2

Reasons for never ordering a genomic test b (n = 63). Note: Respondents were able to select more than 1 reason.

Figure 3

Utility scores of genetic testing, clinical genetics consultation, and genetic counseling services. Boxes show median and interquartile range. Whiskers show upper and lower extremes. Outliers are plotted. Note: Clinicians were asked to rank the usefulness of these services from 1 = “Not at all useful” to 10 = “Very useful”; useful is defined as score of ≥6.

Figure 4

Provider responses to the adapted IGNITE pre-implementation provider questionnaire, coded by Consolidation Framework for Implementation Science. GT, genomic testing.

Figure 5

Summary of free-text comments from 38 respondents.