Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

Thomas, Christie P.; Freese, Margaret E; Ounda, Agnes; Jetton, Jennifer G.; Holida, Myrl; Noureddine, Lama; Smith, Richard J.H.

doi:10.1038/s41436-020-0772-y

Cited by 54 publications

(65 citation statements)

References 40 publications

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“…Overall, clinicians indicated that genomics has the potential to improve the management of nephrology patients, indicating that a median of 70% of patients who underwent genomic testing would have an impact on their clinical care. This appears to be consistent with current evidence, which reports varying diagnostic utility as high as 60% in carefully selected populations 4 . There is limited data on the clinical utility of genomic testing, but a recent study reported changes to management in 59% of patients following a genomic diagnosis 25 .…”

Section: Discussionsupporting

confidence: 92%

“…Genomic testing is becoming widely available as a diagnostic tool in nephrology 1 and evidence for clinical usefulness in the care of individuals with kidney disease is beginning to emerge [2][3][4] , with diagnostic yields ranging from 10 to 60% depending on patient selection strategies used. Funding for genetic and especially genomic testing is limited in many healthcare settings, and access to services such as genetic counseling and clinical genetics consultation is highly variable across many specialties, including nephrology [5][6][7] .…”

Section: Introductionmentioning

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: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Jayasinghe

Quinlan

Mallett

et al. 2021

Kidney International Reports

View full text Add to dashboard Cite

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“…Our diagnostic yield in adults (34%) is significantly higher than the recently published cohort by Groopman et al, 3 which likely reflects the differences in patient selection, as patients in this study were assessed as having possible GKD following MDT assessment. Our yield is comparable with other published cohorts with suspected GKD, 13,29,30 apart from the retrospective study by Thomas et al, 14 which found a diagnosis in 26/43 (60%) patients who underwent genetic testing. The lower diagnostic yield in our cohort is likely due to several reasons.…”

Section: Discussionsupporting

confidence: 90%

“…Results were not returned to patients, and hence the clinical value of genomic testing, both to the patient and their family, was not evaluated. A small number of studies have provided retrospective or pilot single-center evaluations of clinical genomic tests in renal patients 13,14 or evaluated researchbased genomic tests in particular subgroups of kidney disease such as transplant recipients or steroid-resistant nephrotic syndrome. 4,15 This preliminary evidence supports the value of exome sequencing (ES) in both adult and pediatric patients with renal disease, paving the way for wider implementation.…”

Section: Introductionmentioning

confidence: 99%

“…Preliminary evidence has shown that dedicated RGCs may improve diagnostic outcomes and enhance care of patients. 14,16,17 We sought to determine the diagnostic yield and clinical impact on patients and their families of clinically accredited ES in a prospective cohort of adults and children with suspected genetic kidney disease in the context of a multidisciplinary RGC.…”

Section: Introductionmentioning

confidence: 99%

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Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Jayasinghe

Stark

Kerr

et al. 2021

Genetics in Medicine

106

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To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods: We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia. Results: ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/ 80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%). Conclusion: In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.

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Novel genetic testing model: A collaboration between genetic counselors and nephrology

Amlie‐Wolf

Baker

Hiddemen

et al. 2021

American J of Med Genetics Pt A

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Many barriers to genetic testing currently exist which delay or prevent diagnosis. These barriers include wait times, staffing, education, and cost. Specialists are able to identify patients with disease that may need genetic testing, but lack the genetics support to facilitate that testing in the most cost, time, and medically effective manner. The Nephrology Division and the Genetic Testing Stewardship Program at Nemours A.I. duPont Hospital for Children created a novel service delivery model in which nephrologists and genetic counselors collaborate in order to highlight their complementary strengths (clinical expertise of nephrologists and genetics and counseling skills of genetic counselors). This collaboration has reduced many barriers to care for our patients. This workflow facilitated the offering of genetic testing to 76 patients, with 86 tests completed over a 20‐month period. Thirty‐two tests were deferred. Twenty‐seven patients received a diagnosis, which lead to a change in their medical management, three of whom were diagnosed by cascade family testing. Forty‐two patients had a negative result and 16 patients had one or more variants of uncertain significance on testing. The inclusion of genetic counselors in the workflow is integral toward choosing the most cost and time effective genetic testing strategy, as well as providing psychosocial support to families. The genetic counselors obtain informed consent, and review genetic test results and recommendations with the patient and their family. The availability of this program to our patients increased access to genetic testing and helps to provide diagnoses and supportive care.

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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

Cited by 54 publications

References 40 publications

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Novel genetic testing model: A collaboration between genetic counselors and nephrology

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