Diagnosis of uncertain significance: can next-generation sequencing replace the clinician?

Kidney Int. 2020 Mar;97(3):455-457. doi: 10.1016/j.kint.2019.12.012.


New sequencing technologies are revolutionizing disease gene discovery and testing with tremendous benefits for the diagnosis of rare diseases. However, the more we sequence, the more we discover, and the challenge is to assess the numerous variants in the clinical and genetic context carefully to establish the correct diagnosis. Clinicians and geneticists must work together for this because failure to do so can result in incorrect advice with potentially serious consequences.

Publication types

  • Comment

MeSH terms

  • Acidosis, Renal Tubular*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Rare Diseases
  • Sequence Analysis, DNA
  • Whole Exome Sequencing