ACMG Clarifies Statements on Return of Incidental Findings

The American College of Medical Genetics and Genomics (ACMG) has issued a clarification of its recent practice release on recommendations for reporting of incidental findings in clinical exome and genome sequencing. The March 22 recommendations stressed that there is a subset of conditions, genes, and variants for which there is the significant potential for preventing disease morbidity and mortality if identified in the presymptomatic period. Thus, the college recommended that certain genetic findings uncovered by a lab during sequencing be reported back to the physician and patient, even if those findings were unrelated to why the patient was undergoing testing. Commentaries about the ACMG recommendations have raised a number of points and discussion both in favor of and against the recommendations. According to the association, because there is some misinformation and misinterpretation about the recommendations, ACMG has prepared the clarification document to address five issues raised: patient autonomy, incidental findings in children, clinical laboratory considerations, result communication, and prediction of disease likelihood. For example, ACMG notes that it has previously articulated the position that a laboratory should have a clear policy on whether it reports incidental findings resulting from genomic sequencing. “The current recommendation defines a minimal set of incidental findings that we believe should be sought and reported by the laboratory,” says the group in its clarification. “Indeed, given the low probability of an individual having such an incidental finding, it is imperative that a very high bar be set with return of only those variants with a very high probability of being deleterious. Otherwise, the risk of false positives will be significant. “We recognize that some genome or genome sequencing tests may not be optimized for coverage of variants associated with these incidental findings. We do not recommend that laboratories modify these tests if they are otherwise suitable to achieve their clinical objectives; in such cases, however, laboratories should specify that the test was not optimized to detect incidental findings.” The clarification is available online at www.acmg.net.