TY - JOUR
T1 - Review of genetic testing in kidney disease patients
T2 - Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups
AU - Claus, Laura R
AU - Snoek, Rozemarijn
AU - Knoers, Nine V A M
AU - van Eerde, Albertien M
N1 - Funding Information:
The authors acknowledge and thank Rieko Haring and Richard van Kemenade who ran the literature database searches and screened articles for eligibility as part of their bachelor thesis. This work was supported by the Dutch Kidney Foundation (18OKG19 to A. M. v. E.). The authors of this publication are members of the European Reference Network for Rare Kidney Diseases (ERKNet).
Funding Information:
The authors acknowledge and thank Rieko Haring and Richard van Kemenade who ran the literature database searches and screened articles for eligibility as part of their bachelor thesis. This work was supported by the Dutch Kidney Foundation (18OKG19 to A. M. v. E.). The authors of this publication are members of the European Reference Network for Rare Kidney Diseases (ERKNet).
Publisher Copyright:
© 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.
PY - 2022/9
Y1 - 2022/9
N2 - Genetic kidney disease comprises a diverse group of disorders. These can roughly be divided in the phenotype groups congenital anomalies of the kidney and urinary tract, ciliopathies, glomerulopathies, stone disorders, tubulointerstitial kidney disease, and tubulopathies. Many etiologies can lead to chronic kidney disease that can progress to end-stage kidney disease. Despite each individual disease being rare, together these genetic disorders account for a large proportion of kidney disease cases. With the introduction of massively parallel sequencing, genetic testing has become more accessible, but a comprehensive analysis of the diagnostic yield is lacking. This review gives an overview of the diagnostic yield of genetic testing across and within the full range of kidney disease phenotypes through a systematic literature search that resulted in 115 included articles. Patient, test, and cohort characteristics that can influence the diagnostic yield are highlighted. Detection of copy number variations and their contribution to the diagnostic yield is described for all phenotype groups. Also, the impact of a genetic diagnosis for a patient and family members, which can be diagnostic, therapeutic, and prognostic, is shown through the included articles. This review will allow clinicians to estimate an a priori probability of finding a genetic cause for the kidney disease in their patients.
AB - Genetic kidney disease comprises a diverse group of disorders. These can roughly be divided in the phenotype groups congenital anomalies of the kidney and urinary tract, ciliopathies, glomerulopathies, stone disorders, tubulointerstitial kidney disease, and tubulopathies. Many etiologies can lead to chronic kidney disease that can progress to end-stage kidney disease. Despite each individual disease being rare, together these genetic disorders account for a large proportion of kidney disease cases. With the introduction of massively parallel sequencing, genetic testing has become more accessible, but a comprehensive analysis of the diagnostic yield is lacking. This review gives an overview of the diagnostic yield of genetic testing across and within the full range of kidney disease phenotypes through a systematic literature search that resulted in 115 included articles. Patient, test, and cohort characteristics that can influence the diagnostic yield are highlighted. Detection of copy number variations and their contribution to the diagnostic yield is described for all phenotype groups. Also, the impact of a genetic diagnosis for a patient and family members, which can be diagnostic, therapeutic, and prognostic, is shown through the included articles. This review will allow clinicians to estimate an a priori probability of finding a genetic cause for the kidney disease in their patients.
KW - CKD
KW - CNV
KW - diagnostic yield
KW - genetic testing
KW - MPS
KW - nephrogenetics
KW - review
UR - https://www.scopus.com/pages/publications/85138712605
U2 - 10.1002/ajmg.c.31995
DO - 10.1002/ajmg.c.31995
M3 - Review article
C2 - 36161467
SN - 1552-4868
VL - 190
SP - 358
EP - 376
JO - American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
JF - American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
IS - 3
ER -