Incidental variants are critical for genomics

Am J Hum Genet. 2013 May 2;92(5):648-51. doi: 10.1016/j.ajhg.2013.04.001.


The topic of incidental variants detected through exome and genome sequencing is controversial, both in clinical practice and in research. The arguments for and against the deliberate analysis and return of incidental variants focus on issues of clinical validity, clinical utility, autonomy, clinical and research infrastructure and costs, and, in the research arena, therapeutic misconception. These topics are briefly reviewed and an argument is made that these variants are the future of genomic medicine. As a field, we should take full advantage of all opportunities to study these variants by searching them out, returning them to patients and research participants, and studying their utility for predictive medicine.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Disclosure / ethics
  • Disclosure / trends*
  • Genetic Testing / methods*
  • Genetic Variation*
  • Genetics, Medical / methods*
  • Genomics / methods*
  • Humans
  • Incidental Findings*