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Clinical Genetic Screening in Adult Patients with Kidney Disease.

Enrico CocchiJordan Gabriela NestorAli G Gharavi
Published in: Clinical journal of the American Society of Nephrology : CJASN (2020)
Expanded accessibility of genetic sequencing technologies, such as chromosomal microarray and massively parallel sequencing approaches, is changing the management of hereditary kidney diseases. Genetic causes account for a substantial proportion of pediatric kidney disease cases, and with increased utilization of diagnostic genetic testing in nephrology, they are now also detected at appreciable frequencies in adult populations. Establishing a molecular diagnosis can have many potential benefits for patient care, such as guiding treatment, familial testing, and providing deeper insights on the molecular pathogenesis of kidney diseases. Today, with wider clinical use of genetic testing as part of the diagnostic evaluation, nephrologists have the challenging task of selecting the most suitable genetic test for each patient, and then applying the results into the appropriate clinical contexts. This review is intended to familiarize nephrologists with the various technical, logistical, and ethical considerations accompanying the increasing utilization of genetic testing in nephrology care.
Keyphrases
  • genome wide
  • copy number
  • healthcare
  • single cell
  • palliative care
  • dna methylation
  • gene expression
  • case report
  • risk assessment
  • early onset
  • single molecule
  • replacement therapy
  • human health