Clinical tumor sequencing: An incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings

摘要

In 2013, the American College of Medical Genetics and Genom-ics (ACMG) issued recommendations for reporting incidental findings, defined as results of potential medical utility that are not related to the indication for ordering the sequencing test, in a panel of 56 disease-associated genes when performing clinical exome and genome sequencing.1 Given the increasing use of clinical sequencing for characterization of both germline and tumor genomes in diverse clinical settings, these recommendations reflect careful consideration of the complex issues related to these tests. Unsurprisingly, they have provoked vigorous discussion and debate regarding issues of patient autonomy and the ethics of returning results for pediatric patients.2"6 Although there has been comparatively little discussion of the impact of these recommendations on testing of tumor specimens,7 the scope of these recommendations does extend beyond germline genetic testing into the realm of tumor-focused testing with the statement that "incidental variants should be reported for the normal sample of a tumor-normal sequenced dyad."