TY - JOUR

T1 - Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms

AU - Vears, Danya F.

AU - Niemiec, Emilia

AU - Howard, Heidi Carmen

AU - Borry, Pascal

N1 - Funding Information: Acknowledgements D.F.V. is a Postdoctoral Research Fellow of the Research Foundation - Flanders (FWO-Vlaanderen). E.N. has been supported by Erasmus Plus Joint International PhD Programme in Law, Science and Technology Fellowship. This work was facilitated by the COST Action IS1303 ‘Citizen’s Health through public-private Initiatives: Public health, Market and Ethical perspectives’, supported by COST (European Cooperation in Science and Technology) (http:// www.cost.eu). Part of this work has been supported by the SIENNA project, (under grant agreement No 741716) and the BBMRI-ERIC. Publisher Copyright: © 2018, European Society of Human Genetics.

PY - 2018/12/1

Y1 - 2018/12/1

N2 - 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 of forms explicitly stated that reinterpretation of variants for clinical purposes may occur. Less than half mentioned recontact for clinical purposes, with variation as to whether laboratories, patients, or clinicians should initiate this. We suggest that the variability in variant reporting, reinterpretation, and recontact policies and practices revealed by our analysis may lead to diffused responsibility, which could result in missed opportunities for patients or family members to receive a diagnosis in response to updated variant classifications. Finally, we provide some suggestions for ethically appropriate inclusion of policies for reporting VUS, reinterpretation, and recontact on consent forms.

AB - 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 of forms explicitly stated that reinterpretation of variants for clinical purposes may occur. Less than half mentioned recontact for clinical purposes, with variation as to whether laboratories, patients, or clinicians should initiate this. We suggest that the variability in variant reporting, reinterpretation, and recontact policies and practices revealed by our analysis may lead to diffused responsibility, which could result in missed opportunities for patients or family members to receive a diagnosis in response to updated variant classifications. Finally, we provide some suggestions for ethically appropriate inclusion of policies for reporting VUS, reinterpretation, and recontact on consent forms.

UR - http://www.scopus.com/inward/record.url?scp=85052939503&partnerID=8YFLogxK

U2 - 10.1038/s41431-018-0239-7

DO - 10.1038/s41431-018-0239-7

M3 - Journal article

C2 - 30143804

AN - SCOPUS:85052939503

VL - 26

SP - 1743

EP - 1751

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 12

ER -