The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

Rasouly, Hila Milo; Balderes, Olivia; Marasà, Maddalena; Fernández, Hilda; Lipton, Marissa; Lin, Fangming; Gharavi, Ali G.; Sabatello, Maya

doi:10.1016/j.gim.2023.100814

Cited by 16 publications

(10 citation statements)

References 44 publications

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“…However, genomics education is not part of the standard internal medicine residency and nephrology fellowship curriculum, and 80% of nephrologists who have ordered genetic testing indicated either no or limited genetic education [19]. There appeared to be a positive correlation between genetics knowledge and the number of patients referred for genetic evaluation and survey respondents expressed a lack of access to genetic experts as a significant barrier to genetic testing in patients with kidney disease, which was also corroborated in another survey [20 ▪ ].…”

Section: Importance Of Genetic Counseling and The Role Of Clinical Ge...mentioning

confidence: 72%

Genetic testing in the evaluation of recipient candidates and living kidney donors

Lee,

Thomas

2023

Current Opinion in Nephrology &Amp; Hypertension

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Purpose of review The aim of this study is to provide an overview of the role of genetic testing in the evaluation of kidney transplant candidates and living donors who may be at risk for heritable kidney disease. We focus our discussion on monogenic diseases, excluding renal diseases that have complex polygenic influences. Adoption of new technologies such as next-generation sequencing (NGS) with comprehensive gene panels has greatly enabled access to genetic testing recently; yet transplant professionals rarely receive adequate training in clinical genetics. In addition to a broad discussion of genetic testing, we hope to illustrate the thought processes and resources used in clinical genetic evaluation of recipient candidates and donors. Recent findings Targeted renal genetic panels, whole exome and genome sequencing have greatly expanded our ability to test for pathogenic variants. Testing methods, analytic tools and the subsequent interpretation by the testing laboratory and treating physician impacts patient management and clinicians may lack the resources to practice in this new era of genomic medicine. Summary The expansion of genomics into transplant medicine can provide improved diagnosis in transplant candidates and potentially disease prediction in living donors. Transplant professionals need to be familiar with emerging trends, promises and limitations of NGS-based testing.

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Section: Importance Of Genetic Counseling and The Role Of Clinical Ge...mentioning

confidence: 72%

Genetic testing in the evaluation of recipient candidates and living kidney donors

Lee,

Thomas

2023

Current Opinion in Nephrology &Amp; Hypertension

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“…They also used online databases and took advantage of genetic counselors from both the testing company and their institution. Genetic education and training have been reported as a significant barrier to conducting testing among both nephrologists and other clinicians, but it was reassuring here that nephrologists were for the most part using multiple resources [19,[23][24][25].…”

Section: Discussionmentioning

confidence: 91%

“…More specifically, among US adult nephrologists, while 72% were conducting genetic testing regularly, 79% indicated limited or no education in genetics [23]. An additional US survey of adult and pediatric nephrologists focused on genetic education in 2021 found 40% of nephrologists felt they had insufficient training in genetic testing [24]. Other barriers to genetic testing experienced by nephrologists include lack of access to testing, resources for learning, and support for the logistics of obtaining samples and processing insurance [19,[25][26][27].…”

Section: Introductionmentioning

confidence: 99%

Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Investigators

Fishbein,

Wilson Dass,

Lienczewski

et al. 2023

Glomerular Dis

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Introduction: There is an increasing need to return genetic testing results to patients with kidney disease who were first genotyped on a research basis. Operationalizing this process in nephrology clinics is challenged by a limited number of genetic providers with whom to partner and a general lack of support services for all clinicians. Methods: We administered a survey in March 2022 to assess the current ability and ongoing needs of nephrology divisions to return clinically significant research genetic results to patients and to implement clinical genetic testing. This survey was distributed to institutions within the Nephrotic Syndrome Study Network (NEPTUNE) as part of the planning process for return of research genetic results to participants with pathogenic variants in Mendelian nephrotic syndrome genes. Results: Twenty-seven of 28 sites (96%) completed the survey. 59% (n = 16) of sites said they could handle return of research genetic results independently, with the rest expressing hesitation about the volume and complexity of patients and the limited resources and access to genetics services. 81% (n = 22) of these institutions did have a genetics clinic and 26% (n = 7) have a nephrology genetics clinic. However, 70% (n = 10) of these clinics have a waiting time over 1 month. 89% of divisions (n = 24) were conducting genetic testing and 96% of those (n = 23) used a kidney multi-gene panel. In 46% of divisions (n = 11), nephrologists were handling logistics of obtaining genetic testing samples themselves. Conclusion: We identified specific areas of support needed for return of clinically significant genetic results from research studies. While the surveyed nephrologists were conducting genetic testing, there were limitations in the support services available. This survey will help guide other research studies that wish to return genetic results to participants and also highlight the need for increasing support to effectively operationalize genetic testing in nephrology clinics.

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“…Despite the acknowledged benefits of genetic testing on the management of CKD, 6,9 barriers to the adoption of genetic testing for CKD exist, including insufficient education about recognizing genetic disease, identifying appropriate genetic tests, lack of access to genetic counseling and appropriate subspecialty referral, and concerns about insurability for patients. 12,13,[34][35][36] In addition, adoption of genetic diagnostics will require practitioners' acceptance that ongoing variant classification and gene discovery can lead to future changes in the interpretation of genetic results. Finally, a lack of familiarity and trust in genetic testing from physicians and patients can hinder implementation of changes on the basis of genetic findings.…”

Section: Effect Of Genetic Testing On Patient Clinical Managementmentioning

confidence: 99%

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease

Dahl,

Bloom,

Chebib

et al. 2023

JASN

Self Cite

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Background: Genetic testing in chronic kidney disease (CKD) has recently been shown to have diagnostic utility with many predicted implications for clinical management, but its effect on management has not been prospectively evaluated. Methods: RenaCARE (Renasight Clinical Application, Review, and Evaluation; ClinicalTrials.gov NCT05846113) is a single-arm, interventional, prospective, multi-center study that evaluated the utility of genetic testing with a broad, 385-gene panel (the Renasight™ test) on diagnosis and management of adult CKD patients recruited from 31 US-based community and academic medical centers. Patient medical history and clinical CKD diagnosis were collected at enrollment. Physician responses to questionnaires regarding patient disease categorization and management were collected prior to genetic testing and one month following the return of test results. Changes in CKD diagnosis and management after genetic testing were assessed. Results: Of 1623 CKD patients in 13 predefined clinical disease categories (ages 18-96, median: 55 years), 20.8% (n=338) had positive genetic findings spanning 54 genes. Positive genetic findings provided a new diagnosis or reclassified a prior diagnosis in 48.8% of those patients. Physicians reported that genetic results altered management of 90.7% of patients with a positive genetic finding, including changes in treatment plan, which were reported in 32.9% of these patients. Conclusion: Genetic testing with a CKD-focused 385-gene panel substantially refined clinical diagnoses and had widespread implications for clinical management, including appropriate treatment strategies. These data support the utility of broader integration of panels of genetic tests into the clinical care paradigm for CKD patients.

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The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

Cited by 16 publications

References 44 publications

Genetic testing in the evaluation of recipient candidates and living kidney donors

Genetic testing in the evaluation of recipient candidates and living kidney donors

Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Investigators

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease

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