Incidental Findings in Clinical Exome/Genome Sequencing

Posted by & filed under Exome sequencing, Part 06: DIAGNOSTIC APPROACHES.

During the Annual Clinical Genetics Meeting of the American College of Medical Genetics and Genomics (ACMG) in Phoenix, the “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing” were released. This report includes recommendations for management of incidental findings and for a minimum list of conditions, genes, and variants to be returned whenever clinical sequencing is performed.

For the conditions on the list, it is recommended that the laboratory return the incidental findings to the physician ordering the test. The physician should then manage this information with the patient, taking into consideration the patient’s clinical presentation and family history. The recommendations can be found at

posted by Yannis Trakadis, MD

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