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

Mrug, Michal; Bloom, Michelle S.; Seto, Christine; Malhotra, Meenakshi; Tabriziani, Hossein; Gauthier, Philippe; Sidlow, Vicki; McKanna, Trudy; Billings, Paul R.

doi:10.1016/j.xkme.2021.08.006

Cited by 22 publications

(20 citation statements)

References 23 publications

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“…Increased funding was widely called for, by several individuals, as critical to support and facilitate the genomic testing and services provided. This is consistent with a previous study surveying nephrologists in the United States that also demonstrated cost was one of the most important barriers, as well as a lack of ease of use and poor availability of tests [ 18 ]. In addition to funding for testing, nephrologists reported a lack of overall resources to support and sustain the presence of genetics services across Australia.…”

Section: Discussionsupporting

confidence: 92%

“…Within nephrology, previous research assessed nephrologists’ attitudes and practices, as well as perceived barriers and interventions to the uptake of genomic medicine through a mixed methods electronic survey [ 16 ]. The findings demonstrated low uptake and confidence in genomic medicine by nephrology specialists, consistent with findings from studies of other specialists and primary care providers [ 17 , 18 , 19 ]. Most believed genomics to be useful in clinical care [ 2 , 16 ].…”

Section: Introductionsupporting

confidence: 78%

“…With test funding becoming available in many public healthcare systems, including Australia, it is imperative that nephrologists incorporate genomics into routine practice. Previous research has examined aspects of genomics in nephrology, including the diagnostic utility of genomic testing [ 2 , 3 , 27 ], cost-effectiveness [ 10 ], and perceived barriers to the implementation [ 16 , 18 ]. A systematic review of studies which evaluated barriers and interventions of genomics implementation in other contexts demonstrated that few studies have assessed factors outside the individual and interpersonal levels [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

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Theory Designed Strategies to Support Implementation of Genomics in Nephrology

Kansal

Quinlan

Stark

et al. 2022

Genes

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Background: (1) Background: Genomic testing is increasingly utilized as a clinical tool; however, its integration into nephrology remains limited. The purpose of this study was to identify barriers and prioritize interventions for the widespread implementation of genomics in nephrology. (2) Methods: Qualitative, semi-structured interviews were conducted with 25 Australian adult nephrologists to determine their perspectives on interventions and models of care to support implementation of genomics in nephrology. Interviews were guided by a validated theoretical framework for the implementation of genomic medicine—the Consolidated Framework of Implementation Research (CFIR). (3) Results: Nephrologists were from 18 hospitals, with 7 having a dedicated multidisciplinary kidney genetics service. Most practiced in the public healthcare system (n = 24), a large number were early-career (n = 13), and few had genomics experience (n = 4). The top three preferred interventions were increased funding, access to genomics champions, and education and training. Where interventions to barriers were not reported, we used the CFIR/Expert Recommendations for Implementing Change matching tool to generate theory-informed approaches. The preferred model of service delivery was a multidisciplinary kidney genetics clinic. (4) Conclusions: This study identified surmountable barriers and practical interventions for the implementation of genomics in nephrology, with multidisciplinary kidney genetics clinics identified as the preferred model of care. The integration of genomics education into nephrology training, secure funding for testing, and counselling along with the identification of genomics champions should be pursued by health services more broadly.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

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Theory Designed Strategies to Support Implementation of Genomics in Nephrology

Kansal

Quinlan

Stark

et al. 2022

Genes

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“…The use of a broad panel for genetic diagnosis for kidney diseases has multiple advantages for clinicians, minimizing the need to identify the correct genetic panel or prioritize panels for individuals with an overlap of symptoms. Use of a single test for a wide range of patients allows physicians to become familiar with a single process for ordering, insurance ascertainment, cost, and results reporting, which have previously been identified as obstacles for use of genetic testing among nephrologists [4, 34]. In addition, unexpected findings for rare diseases that were not under consideration will improve diagnostic accuracy.…”

Section: Discussion/conclusionmentioning

confidence: 99%

Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel

et al. 2022

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Introduction: Chronic kidney disease (CKD) is a major public health issue in the USA. Identification of monogenic causes of CKD, which are present in ∼10% of adult cases, can impact prognosis and patient management. Broad gene panels can provide unbiased testing approaches, which are advantageous in phenotypically heterogeneous diseases. However, the use and yield of broad genetic panels by nephrologists in clinical practice is not yet well characterized. Methods: Renal genetic testing, ordered exclusively for clinical purposes, predominantly by general and transplant nephrologists within the USA, was performed on 1,007 consecutive unique patient samples. Testing was performed using a commercially available next-generation sequencing-based 382 gene kidney disease panel. Pathogenic (P) and likely pathogenic (LP) variants were reported. Positive findings included a monoallelic P/LP variant in an autosomal dominant or X-linked gene and biallelic P/LP variants in autosomal recessive genes. Results: Positive genetic findings were identified in 21.1% (212/1,007) of cases. A total of 220 positive results were identified across 48 genes. Positive results occurred most frequently in the PKD1 (34.1%), COL4A5 (10.9%), PKD2 (10.0%), COL4A4 (6.4%), COL4A3 (5.9%), and TTR (4.1%) genes. Variants identified in the remaining 42 genes comprised 28.6% of the total positive findings, including single positive results in 26 genes. Positive results in >1 gene were identified in 7.5% (16/212) of cases. Conclusions: Use of broad panel genetic testing by clinical nephrologists had a high success rate, similar to results obtained by academic centers specializing in genetics.

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“… 10 The expertise in renal genetic clinics could be a valuable resource, as barriers for nephrologists to adopt genetic tests have been noted. 11 …”

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confidence: 99%