Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.

ABSTRACT: There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients? Should they reinterpret VUS in response to growing knowledge in the field? And should patients be recontacted regarding such results? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact. One-third (20/58) of the forms did not mention VUS in any way. Of the 38 forms that mentioned VUS, only half provided some description of what a VUS is. Approximately one-third

SUBMITTER: Vears DF 

PROVIDER: S-EPMC6244391 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature