The American College of Medical Genetics and Genomics (ACMG) now recommends that when laboratories performing exome and genome sequencing identify incidental genetic findings for certain, well-characterized conditions, they should return the findings to the ordering physician. ACMG has defined an initial “minimum list” of conditions, genes, and variants but expects the list to evolve. The report, released at the 2013 Annual Clinical Genetics Meeting (Phoenix; March 19-23) and in an upcoming issue of Genetics in Medicine, says returning incidental findings is consistent with the long history of “opportunistic screening” in clinical medicine. The initial list of conditions, genes, and variants that trigger reporting were selected because they are recognized to be pathogenic and actionable. Additionally, the working group tried to include conditions for which confirmatory medical diagnosis would be available. Priority went to disorders for which preventive measures and/or treatments were available and disorders in which individuals might be asymptomatic for long periods of time. “We recommend that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here,” writes the ACMG working group. “This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the…
