Implementation of a Renal Precision Medicine Program: Clinician Attitudes and Acceptance

Spiech, Katherine M.; Tripathy, Purnima R.; Woodcock, Alex M.; Sheth, Nehal; Collins, Kimberly S.; Kannegolla, Karthik; Sinha, Arjun; Sharfuddin, Asif; Pratt, Victoria M.; Khalid, Myda; Moe, Sharon M.; Skaar, Todd C.; Moorthi, Ranjani N.; Eadon, Michael T.

doi:10.3390/life10040032

Cited by 11 publications

(9 citation statements)

References 28 publications

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“…This is the first study to investigate nephrologists’ attitudes to and practices of genomics implementation in clinical practice. Previous studies of nephrologists’ attitudes focused on pharmacogenomics 11 and APOL1 risk recurrence in living kidney donors, 12 neither of which are widely applicable in the Australian health care system. A recent multisite survey 13 investigated physician-reported barriers to implementing genomic medicine; however, that study focused on primary care providers rather than nephrologists, and combined a number of speciality disease areas, including pharmacogenomics, diabetes, and chronic kidney disease.…”

Section: Discussionmentioning

confidence: 99%

“…This has occurred in the context of substantial investments in state and government initiatives, such as Australian Genomics and Melbourne Genomics Health Alliances, aimed at accelerating the integration of genomics into mainstream healthcare 9,10 . These have facilitated large scale genomic testing in selected patient groups, including kidney disease There is a paucity of data surrounding nephrologists' practices relating to clinical genomic testing, with current evidence focussing on genetic predictors of chronic kidney disease (CKD) risk progression and pharmacogenomic testing in broad CKD populations, rather than those with suspected monogenic conditions 11,12 Furthermore, the readiness for implementation of genomics among the nephrology workforce is unknown. Studies of other specialists and primary care providers suggest that physicians feel underprepared to incorporate genomics in their clinical practice 13,14 .…”

Section: Introductionmentioning

confidence: 99%

“…There is a paucity of data surrounding nephrologists’ practices relating to clinical genomic testing, with current evidence focussing on genetic predictors of chronic kidney disease risk progression and pharmacogenomic testing in broad chronic kidney disease populations, rather than those with suspected monogenic conditions. 11 , 12 Furthermore, the readiness for implementation of genomics among the nephrology workforce is unknown. Studies of other specialists and primary care providers suggest that physicians feel underprepared to incorporate genomics in their clinical practice.…”

mentioning

confidence: 99%

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Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Jayasinghe

Quinlan

Mallett

et al. 2021

Kidney International Reports

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Jayasinghe

Quinlan

Mallett

et al. 2021

Kidney International Reports

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“…Our survey revealed 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 the results 26 and interpretation of the genetic test results as challenges to test implementation. 21 In addition to the interpretation of the results, our survey suggested a need for resources to help nephrologists facilitate discussions with patients about the potential benefits, limitations, and risks of genetic testing.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2021

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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“…However, it is still commonly used in resistant hypertension and as a first-line therapy for afterload reduction in African Americans with heart failure [7]. In the Indiana University Healthcare system, NAT2 genotyping has been performed clinically as part of an antihypertensive pharmacogenetics panel since 2017, with results available to the clinician in the electronic health record [8, 9]. Among the 580 individuals who received antihypertensive pharmacogenetic testing in a kidney clinic, 13% of all renal patients were prescribed hydralazine (alone or in combination with isosorbide dinitrate), including 25% of all African Americans.…”

Section: Introductionmentioning

confidence: 99%

Genotype-Guided Hydralazine Therapy

et al. 2020

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Background: Despite its approval in 1953, hydralazine hydrochloride continues to be used in the management of resistant hypertension, a condition frequently managed by nephrologists and other clinicians. Hydralazine hydrochloride undergoes metabolism by the N-acetyltransferase 2 (NAT2) enzyme. NAT2 is highly polymorphic as approximately 50% of the general population are slow acetylators. In this review, we first evaluate the link between NAT2 genotype and phenotype. We then assess the evidence available for genotype-guided therapy of hydralazine, specifically addressing associations of NAT2 acetylator status with hydralazine pharmacokinetics, antihypertensive efficacy, and toxicity. Summary: There is a critical need to use hydralazine in some patients with resistant hypertension. Available evidence supports a significant link between genotype and NAT2 enzyme activity as 29 studies were identified with an overall concordance between genotype and phenotype of 92%. The literature also supports an association between acetylator status and hydralazine concentration, as fourteen of fifteen identified studies revealed significant relationships with a consistent direction of effect. Although fewer studies are available to directly link acetylator status with hydralazine antihypertensive efficacy, the evidence from this smaller set of studies is significant in 7 of 9 studies identified. Finally, 5 studies were identified which support the association of acetylator status with hydralazine-induced lupus. Clinicians should maintain vigilance when prescribing maximum doses of hydralazine. Key Messages: NAT2 slow acetylator status predicts increased hydralazine levels, which may lead to increased efficacy and adverse effects. Caution should be exercised in slow acetylators with total daily hydralazine doses of 200 mg or more. Fast acetylators are at risk for inefficacy at lower doses of hydralazine. With appropriate guidance on the usage of NAT2 genotype, clinicians can adopt a personalized approach to hydralazine dosing and prescription, enabling more efficient and safe treatment of resistant hypertension.

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Implementation of a Renal Precision Medicine Program: Clinician Attitudes and Acceptance

Cited by 11 publications

References 28 publications

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

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

Genotype-Guided Hydralazine Therapy

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