Mandatory extended searches in all genome sequencing: 'Incidental findings,' patient autonomy, and shared decision making

摘要

Should incidental findings discovered with whole-genome sequencing or testing be sought and reported to ordering clinicians and to patients (or their surrogates)?-No. An incidental finding occurs when a medical test or procedure directed at one condition unexpectedly reveals a separate finding. An example would be when a radiologist notices a chest mass on abdominal computed tomography. By contrast, the American College of Medical Genetics and Genomics (ACMG) statement proposes that whenever genome sequencing is ordered in the clinical setting, laboratories have a mandatory duty to analyze 57 genes (revised to 56 genes) and to report the results to the clinicians and patients, regardless of the patient's age or medical condition. Any positive findings from these additional analyses are hardly incidental; they are the results of a new recommendation for mandatory testing beyond the scope of the original request that will require a significant amount of time, effort, and resources.2 This approach is similar to requiring a laboratory to test every blood sample for human immunodeficiency virus, hemoglobin A_(1c) level, and 54 other tests for which early treatment can reduce morbidity or mortality, even if the physician had only ordered, and the patient had only consented to, a cholesterol measurement.