Towards precision nephrology: the opportunities and challenges of genomic medicine

Jordan G. Nestor, Emily E. Groopman, Ali G. Gharavi

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations

Abstract

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, includingclinical variant interpretation and return of genetic results.

Original languageEnglish
Pages (from-to)47-60
Number of pages14
JournalJournal of Nephrology
Volume31
Issue number1
DOIs
StatePublished - 1 Feb 2018
Externally publishedYes

Keywords

  • Copy number variants
  • Genetic testing
  • Nephrology
  • Next generation sequencing
  • Return of results
  • Variant interpretation

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