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

Emma Ashton; Detlef Bockenhauer

doi:10.1016/j.kint.2019.12.012

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.

Authors

Emma Ashton¹, Detlef Bockenhauer²

Affiliations

¹ London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
² Department of Renal Medicine, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address: d.bockenhauer@ucl.ac.uk.

PMID: 32087887
DOI: 10.1016/j.kint.2019.12.012

Abstract

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.

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MeSH terms

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