Incidental Finding in Copy Number Variation (CNV) Analysis

Abstract
When interrogating the human genome, the most significant finding at times might not even be the one related to the referring diagnosis. Such incidental findings (IFs) can pose challenges with regard to which results should be revealed? Such issues have begun to be addressed with the recent American College of Medical Genetics and Genomics (ACMG) recommendations for reporting IFs in clinical exome and genome sequencing; however, copy number variants (CNV) were not specifically addressed. The recommendations found that while some incidental CNV findings are currently of uncertain clinical significance, others are medically actionable. The reporting of the incidental CNVs can have a significant impact on risk counseling for future pregnancies and other family members at risk as well as enabling interventions to improve health outcomes. According to the ACMG recommendations, in the course of performing chromosomal microarray analysis in 3,500 “normal” parental samples for interpretation of variants of unknown clinical significance in the proband, we incidentally found 28 (0.8 %) clinically relevant CNVs that were reported back to the physician to be communicated to the patient. Reporting of IFs is not new to medicine, so should reporting IF in whole genome analysis be any different? Should the current ACMG recommendations for reporting IFs be updated to incorporate incidental CNVs?

Source: Current Genetic Medicine Reports - September 1, 2014 Category: Genetics & Stem Cells Source Type: research