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ACMG Releases Recommendations on Incidental Findings in Clinical Exome, Genome Sequencing

Wayne W Grody MD Phd FACMGWayne W. Grody, MD, FACMGThe American College of Medical Genetics and Genomics (ACMG), Bethesda, Md, has released its “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing” report at its 2013 Annual Clinical Genetics Meeting in Phoenix.

The report generated a short list of well-understood conditions/genes/variants for which the possibility exists of medical intervention with high benefit to those carrying the variants if they are detected presymptomatically.

“This report is tremendously important because it begins to standardize the process by which the comprehensive power of genomic sequencing can be tailored to optimally benefit patients when clinically important findings not directly related to the primary reason for ordering the test are revealed,” says Wayne W. Grody, MD, FACMG, president, ACMG. “We recommend that labs performing clinical exome and genome sequencing recognize and report significant mutations for the serious diseases specified in the Report.”

Incidental, or secondary, findings, are health-related interpretations of a patient’s genetic code that are unrelated to the primary reason for ordering the testing. For example, if an exome or genome sequence were ordered to help diagnose a cardiac condition, there would exist the possibility of finding a different gene that indicated a predisposition for cancer. If the cancer risk were reported to the ordering clinician as an incidental finding, the clinician and patient could explore whether to increase medical surveillance in a way that could catch a cancer earlier and reduce mortality in that patient.

As exome and genome sequencing become more commonly used in medical care, physicians will increasingly be able to learn about genetic changes that increase an individual’s risk for developing an unrelated disease. In the past, these incidental genetic findings (unrelated to the condition for which the patient was tested) were seldom provided to the patient.

The ACMG now recommends that for the conditions on the list, the laboratory should return the incidental findings to the physician ordering the sequencing, and those physicians should manage this information with the patient in the context of that patient’s clinical presentation and family history.

The extensive 27-page report was developed through a year-long consensus process by a Working Group comprised of medical and lab geneticists from leading institutions and outside reviewers. The process produced recommendations that were ultimately reviewed and approved by the ACMG board of directors, which is comprised of board-certified clinical and lab medical genetics health care professionals.

Robert Green MD MPHRobert C. Green, MD, FACMG“The genome has an extraordinary potential for providing health-related information about both rare and common conditions, but it has been difficult to draw a line and suggest that one set of findings should be part of the medical report and another set should not,” says Robert C. Green, MD, FACMG, a medical geneticist at Brigham and Women’s Hospital and Harvard Medical School, who co-chaired the Working Group and was lead author of the report. “In these recommendations, despite a scarcity of clear scientific evidence, we have identified a small number of conditions, genes and variants through consensus that are likely to have a positive impact upon the health of patients and their families if identified incidentally.”

[Source: ACMG]