Journal article

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

Danya F Vears, Emilia Niemiec, Heidi Carmen Howard, Pascal Borry

Eur J Hum Genet | Published : 2018


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 for..

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University of Melbourne Researchers