see Incidental copy-number variants identified by routine genome testing in a clinical population
As genome-wide studies enter the clinic, evidence continues to mount that potentially clinically actionable incidental findings can be expected with some regularity. In this issue, Boone et al. describe an array of incidentally discovered copy-number-variant (CNV) mutations that may increase the risk of adult-onset disease and may be clinically actionable. The group performed array comparative genomic hybridization (aCGH), which can detect deletions, duplications, and rearrangements as small as one exon, on just over 9,000 individuals who had been referred because of suspicion of a genetic disorder. In addition to detecting CNVs relevant to the referring condition, the research team identified 83 CNVs affecting late-onset-disease genes. Frustratingly, half of the variants discovered were of unknown clinical importance. The authors suggest that, given the nearly 1 in 100 chance that potentially clinically relevant incidental genetic alterations will be revealed, patients should be made aware of this possibility before being asked to consent to testing. —Karyn Hede, News Editor
