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

Incidental variants are critical for genomics.

Author information

1
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. leslieb@helix.nih.gov

Abstract

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.

PMID:
23643378
PMCID:
PMC3644628
DOI:
10.1016/j.ajhg.2013.04.001
[Indexed for MEDLINE]
Free PMC Article

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