Management of incidental findings in the era of next-generation sequencing

Heather L. Blackburn, Bradley Schroeder, Clesson Turner, Craig D. Shriver, Darrell L. Ellsworth, Rachel E. Ellsworth*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Next-generation sequencing (NGS) technologies allow for the generation of whole exome or whole genome sequencing data, which can be used to identify novel genetic alterations associated with defined phenotypes or to expedite discovery of functional variants for improved patient care. Be cause this robust technology has the ability to identify all mutations within a genome, incidental find ings (IF)- genetic alterations associated with conditions or diseases unrelated to the patient’s present R. E. EUswori condition for which current tests are being performed- may have important clinical ramifications. The current debate among genetic scientists and clinicians focuses on the following questions: 1) should any IF be disclosed to patients, and 2) which IF should be disclosed - actionable mutations, variants of unknown significance, or all IF? Policies for disclosure of IF are being developed for when and how to convey these findings and whether adults, minors, or individuals unable to provide consent have the right to refuse receipt of IF. In this review, we detail current NGS technology platforms, discuss pressing issues regarding disclosure of IF, and how IF are currently being handled in prenatal, pediatric, and adult patients.

Original languageEnglish
Pages (from-to)159-174
Number of pages16
JournalCurrent Genomics
Issue number3
StatePublished - 1 Jan 2015
Externally publishedYes


  • ACMG
  • Disclosure
  • Incidental findings
  • Next-generation sequencing


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