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.

Genetic Testing for Chronic Kidney Diseases: Clinical Utility and Barriers Perceived by Nephrologists

“…Similar to our study, Jayasinghe et al 21 found that most providers considered genetic testing useful in managing patients with suspected genetic forms of CKD.…”

“…The inability to determine the appropriate genetic test was also recently identified as a J o u r n a l P r e -p r o o f 13 major barrier to using genetic tests by nephrologists. 21 A recent study indicated that approximately half of the genetic tests ordered by non-genetics providers were not the most appropriate option, based on the patient's clinical history, and that selection of the correct tests results in lowered costs for both practices and patients. 25 We identified a positive association between the level of genetics education and the number of tests ordered among the nephrologists in our survey.…”

“…Our survey revealed a high interest in educational resources spanning multiple topics from the genetics underlying CKD to insurance implications. Two recent studies similarly indicated that nephrologists identified discomfort in speaking with patients about results 26 and interpretation of genetic test results as challenges to test implementation 21 . In addition to interpretation of results, our survey suggests a need for resources to help nephrologists facilitate discussions with patients about potential benefits of genetic testing, as well as the limitations and risk.…”

Genomics Integration Into Nephrology Practice

“…However, genetic counseling expertise embedded in a nephrology practice is rare (38) (39). At our center post-test genetic counseling was provided through a collaboration with the Mayo Clinic Center for Individualized Medicine that also fostered the counselors' knowledge of kidney genetic diseases (40).…”

Investigating the Adoption of Clinical Genomics in Australia. An Implementation Science Case Study

“…As the uptake of clinical genomics matures beyond the realm of clinical geneticists, engaging nongenetic medical specialists will be vital to ensure service provision which optimises sustained patient access. Currently, many nongenetic medical specialists would prefer to refer to clinical genetics for genetic/genomic clinical decision making and we know that uptake of genomic testing by physicians is influenced by their knowledge, confidence in how to use genomic results and beliefs about genomic medicine [ 7 , 8 ]. To gather a more in-depth understanding of physicians’ perceptions, we used case study methodology to examine the behavioural drivers and experiences of early, nongenetic medical specialist adopters who were applying genomics in clinical healthcare settings.…”