Towards precision nephrology: the opportunities and challenges of genomic medicine

J Nephrol. 2018 Feb;31(1):47-60. doi: 10.1007/s40620-017-0448-0. Epub 2017 Oct 17.


The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.

Keywords: Copy number variants; Genetic testing; Nephrology; Next generation sequencing; Return of results; Variant interpretation.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Clinical Decision-Making
  • Diffusion of Innovation
  • Forecasting
  • Genetic Predisposition to Disease
  • Genetic Testing / ethics
  • Genetic Testing / trends*
  • Genomics / ethics
  • Genomics / trends*
  • Humans
  • Kidney Diseases / diagnosis
  • Kidney Diseases / genetics*
  • Kidney Diseases / therapy
  • Nephrology / ethics
  • Nephrology / trends*
  • Phenotype
  • Precision Medicine / ethics
  • Precision Medicine / trends*
  • Predictive Value of Tests
  • Prognosis