Clinical Genetic Screening in Adult Patients with Kidney Disease

Cocchi, Enrico; Nestor, Jordan G.; Gharavi, Ali G.

doi:10.2215/cjn.15141219

Cited by 58 publications

(60 citation statements)

References 120 publications

(137 reference statements)

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“…Historically, the use of genetic testing in CKD was limited by the high costs of DNA sequencing. However, advances in Next Generation Sequencing (NGS) have enabled the development of several lower-cost clinical platforms offering simultaneous testing of multiple CKD genes 8 . Nevertheless, despite advances in technology and the decreased costs, genetic testing has not been broadly adopted by nephrologists.…”

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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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confidence: 99%

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

et al. 2021

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“…These data highlight the prevalence of IKDs among CKD cases as a whole. In addition, the fact that ∼30% of patients with CKD have a family member with kidney disease suggests that genetic variants can explain a significant proportion of CKD cases [ 12 ]. Alport syndrome is now considered to be almost as frequent as ADPKD [ 4 ], the latter being a difficult-to-miss diagnosis that accounts for ~5% of patients on KRT.…”

Section: Introductionmentioning

confidence: 99%

Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

Torra

Furlano

Ortíz

et al. 2021

Clinical Kidney Journal

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Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic kidney disease (CKD) and are responsible for at least 10–15% of cases of kidney replacement therapy (KRT) in adults. Pediatric nephrologists are very aware of the high prevalence of IKDs among their patients, but this is not the case for adult nephrologists. Recent publications have demonstrated that monogenic diseases account for a significant percentage of adult cases of CKD. A substantial number of these patients have received a non-specific/incorrect diagnosis or a diagnosis of CKD of unknown etiology, which precludes correct treatment, follow-up and genetic counseling. There are a number of reasons why genetic kidney diseases are difficult to diagnose in adulthood: a) adult nephrologists, in general, are not knowledgeable about IKDs, b) existence of atypical phenotypes, c) genetic testing is not universally available, d) family history is not always available or may be negative, e) lack of knowledge of various genotype–phenotype relationships, f) conflicting interpretation of the pathogenicity of many sequence variants.

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“… 1 , 7 , 8 Improved understanding of genetic kidney diseases, coupled with the reduced cost of sequencing, is making genetic testing in nephrology more common. 9 Nevertheless, multiple barriers need to be addressed for genetic testing to be widely available and maximize its clinical impact. These include cost and coverage issues, pairing of appropriate patients and tests, knowledge gaps for non-geneticist providers, and a limited supply of professionals with genetics expertise.…”

Section: Introductionmentioning

confidence: 99%

Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease

Elliott

James

Simms

et al. 2021

Can J Kidney Health Dis

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Purpose: Genetic testing results are currently obtained approximately 1 year after referral to a medical genetics team for autosomal dominant polycystic kidney disease (ADPKD). We evaluated a mainstream genetic testing (MGT) pathway whereby the nephrology team provided pre-test counseling and selection of patients with suspected ADPKD for genetic testing prior to direct patient interaction by a medical geneticist. Sources of information: A multidisciplinary team of nephrologists, genetic counselors, and medical geneticists developed an MGT pathway for ADPKD using current testing criteria for adult patient with suspected ADPKD and literature from MGT in oncology. Methods: An MGT pathway was assessed using a prospective cohort and compared to a retrospective cohort of 56 patients with ADPKD who received genetic testing using the standard, traditional pathway prior to implementing the MGT for ADPKD. The mainstream pathway was evaluated using time to diagnosis, diagnostic yield, and a patient survey to assess patient perceptions of the MGT pathway. Key findings: We assessed 26 patients with ADPKD using the MGT and 18 underwent genetic testing with return of results. Of them, 52 patients had data available for analysis in the traditional control cohort. The time for return of results using our MGT pathway was significantly shorter with a median time to results of 6 months compared to 12 months for the traditional pathway. We identified causative variants in 61% of patients, variants of uncertain significance in 28%, and 10% had negative testing which is in line with expectations from the literature. The patient surveys showed high satisfaction rates with the MGT pathway. Limitations: This report is an evaluation of a new genetic testing pathway restricted to a single, publicly funded health care center. The MGT pathway involved a prospective collection of a limited number of patients with ADPKD with comparison to a retrospective cohort of patients with ADPKD evaluated by standard testing. Implications: A MGT pathway using clearly defined criteria and commercially available gene panels for ADPKD can be successfully implemented in a publicly funded health care system to reduce the time required to obtain genetic results.

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Clinical Genetic Screening in Adult Patients with Kidney Disease

Cited by 58 publications

References 120 publications

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

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

Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease

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