Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing

Dirix, Marie; Gribouval, Olivier; Arrondel, Christelle; Benjelloun, Saadia; Boyer, Olivia; Charbit, Marina; Antignac, Corinne; Heidet, Laurence; Dorval, Guillaume

doi:10.1111/cge.14305

Cited by 1 publication

(1 citation statement)

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“…104,105 Recent studies highlight the importance of comprehensive genome analysis, including the analysis of noncoding variants, for enhancing the effectiveness of GS for diagnosing rare diseases. 104,106,107 The ongoing development of genomic technologies and new bioinformatic tools will gradually improve our capacity to understand noncoding variants and boost the diagnostic capabilities of GS. 104,105,108 Kidney genomics is also extending beyond monogenic conditions to multifactorial (polygenic) disorders.…”

Section: Future Outlookmentioning

confidence: 99%

The Role of Genetic Testing in Adult CKD

Knoers,

van Eerde

2024

JASN

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Mounting evidence indicates that monogenic disorders are the underlying cause in a significant proportion of chronic kidney disease patients. In recent years, the diagnostic yield of genetic testing in these patients has increased significantly as a result of revolutionary developments in genetic sequencing techniques and sequencing data analysis. Identification of disease-causing genetic variant(s) in chronic kidney disease patients may facilitate prognostication and personalized management, including nephroprotection and decisions around kidney transplantation, and is crucial for genetic counseling and reproductive family planning. A genetic diagnosis in a chronic kidney disease patient allows for screening of at-risk family members, which is also important for determining their eligibility as kidney transplant donors. Despite evidence for clinical utility, increased availability, and data supporting the cost-effectiveness of genetic testing in chronic kidney disease, especially when applied early in the diagnostic process, many nephrologists do not use genetic testing to its full potential because of multiple perceived barriers. Our aim in this paper is to empower nephrologists to (further) implement genetic testing as a diagnostic means in their clinical practice, based on the most recent insights and exemplified by patient vignettes. We stress why genetic testing is of significant clinical benefit to many chronic kidney disease patients, provide recommendations for which patients to test and which test(s) to order, give guidance about interpretation of genetic testing results, and highlight the necessity for and essential components of pre- and post-test genetic counseling.

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