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. 2020 Jul;8(7):e1254.
doi: 10.1002/mgg3.1254. Epub 2020 May 8.

Shortened consent forms for genome-wide sequencing: Parent and provider perspectives

Emma C Hitchcock  1 , Causes Study  1   2 , Alison M Elliott  1   2   3
Affiliations

Shortened consent forms for genome-wide sequencing: Parent and provider perspectives

Emma C Hitchcock et al. Mol Genet Genomic Med. 2020 Jul.

Abstract

Background: Consent forms for exome and/or genome sequencing, collectively called genome-wide sequencing (GWS), frequently contain detailed information on complex topics such as sequencing analysis and incidental findings. Considering recent endeavors by the health care community to simplify GWS consent forms, it is important to gain stakeholders' perspectives on the content, length, and use of consent forms.

Methods: Thematic analysis was conducted on data obtained from focus groups with two participant cohorts: parents who previously provided consent for trio-based GWS as part of the translational pediatric GWS CAUSES Study, and genetic health care providers (HCP) who provide pre-test counseling for GWS.

Results: Genetic HCP indicated that consent forms cannot replace pre-test counseling, and as such, a simplified consent form focusing on the implications of GWS would be beneficial to both patients and HCP. Although parents' primary concerns varied when considering GWS, they all highly valued information. Parents also indicated the need for community and support after the return of GWS results. Both participant cohorts recommended that consent forms be available online and include an appendix for supplementary information.

Conclusion: It is important to include both parents and HCP in the design of GWS consent forms, and also, to help connect families who have a shared diagnosis after the post-test counseling session.

Keywords: exome sequencing; genetic counseling; genome sequencing; genome-wide sequencing; informed consent.

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Conflict of interest statement

Authors Emma C. Hitchcock and Alison M. Elliott report no conflict of interest.

References

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