Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

摘要: Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the results generated may provide information about a patient's health that is unrelated to clinical indication, commonly referred as incidental findings. This paradigm shift from traditional genetic which reporting are tailored specific condition. Clinical laboratories physicians wrestling with this increased complexity genomic of findings patients. An enormous amount discussion has taken place since release set recommendations American College Medical Genetics Genomics. largely focused on content findings, but laboratory perspective patient autonomy been overlooked. report by Association Molecular Pathology workgroup discusses pros cons next-generation technology, potential benefits, harms including effect both patient, compares those other areas medicine. The importance counseling preserve also reviewed. presented underline need continued research among all stakeholders improve our understanding different policies patients, providers, laboratories.