2022
DOI: 10.1007/s00467-021-05374-4
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A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights

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Cited by 17 publications
(19 citation statements)
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“…Indeed, in the very last few years there has been the blooming of service delivery models for optimization of genomic investigations in patients with kidney diseases, commonly referred to as "renal genetic clinics'' (RGCs, Table 1). [5][6][7][8][9][10][11][12][13][14][15] Usually designed as multidisciplinary groups, RCGs aim at integrating different expertises in answering the complex question: is there a genetic cause behind this clinical picture? In other words, RGCs represent the attempt to solve the "Five Ws" (Whom, What, Where, When, Why) questions to gather information about the potential genetic cause of kidney diseases, with important implications for clinical management and prognosis.…”
Section: The Experience Of Renal Genetic Clinics In the Real Worldmentioning
confidence: 99%
“…Indeed, in the very last few years there has been the blooming of service delivery models for optimization of genomic investigations in patients with kidney diseases, commonly referred to as "renal genetic clinics'' (RGCs, Table 1). [5][6][7][8][9][10][11][12][13][14][15] Usually designed as multidisciplinary groups, RCGs aim at integrating different expertises in answering the complex question: is there a genetic cause behind this clinical picture? In other words, RGCs represent the attempt to solve the "Five Ws" (Whom, What, Where, When, Why) questions to gather information about the potential genetic cause of kidney diseases, with important implications for clinical management and prognosis.…”
Section: The Experience Of Renal Genetic Clinics In the Real Worldmentioning
confidence: 99%
“…With these emerging data, the nephrology medical specialty is increasingly utilizing genomic medicine in clinical practice, similar to other specialties such as oncology (Hampel H, 2015) or cardiology (Hershberger R E, 2018; Mital S, 2016), where genetics clinics have become well integrated into clinical practices and are associated with positive outcomes, such as increased knowledge and positive health behaviors, and decreased anxiety and decisional conflict (Madlensky L, 2017). Newly formed renal genetic clinics have reported their early experiences with genetic testing (Amlie-Wolf L, 2021; Thomas C P, 2020; Mallett A, 2016; Alkanderi S, 2017; Pode-Shakked B, 2022; Lundquist A L, 2020; Elhassan EAE, 2022), utilizing the expertise of clinical geneticists, genetic counselors, and nephrologists to guide the interpretation, clinical assessment, and correlation of genetic findings. The integration of genetic counselors in nephrology aims to address nephrologists’ lack of training and low confidence in interpreting genetic results (Jayasinghe K, 2020; Berns, 2010).…”
Section: Introductionmentioning
confidence: 99%
“…Next‐generation sequencing technology was first introduced in 2008 (Li, Ruan, & Durbin, 2008), and since then, has been widely applied to precision medicine in many fields, including nephrology. Recently, the utility of genetic testing in nephrology has been described in several manuscripts (Bekheirnia et al, 2021; Pode‐Shakked et al, 2022).…”
Section: Introductionmentioning
confidence: 99%
“…There are several successful Renal Genetics Clinics (RGC) worldwide where patients and their family members receive care. Referrals to these clinics are typically based on clinical suspicion of a genetic kidney disease and the yield of definitive genetic diagnosis has been reported to be as high as 59% (Bekheirnia et al, 2021; Pode‐Shakked et al, 2022). However, there are limitations to genetic testing in these circumstances, including the challenges related to variants of uncertain significance.…”
Section: Introductionmentioning
confidence: 99%