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. 2021 May;104(5):960-968.
doi: 10.1016/j.pec.2020.10.038. Epub 2020 Nov 6.

A decision aid for additional findings in genomic sequencing: Development and pilot testing

Amanda S Freed  1 , Inga Gruß  2 , Carmit K McMullen  2 , Michael C Leo  2 , Tia L Kauffman  2 , Kathryn M Porter  3 , Kristin R Muessig  2 , Donna Eubanks  2 , Katrina A B Goddard  2 , Benjamin S Wilfond  4 , Elizabeth G Liles  5
Affiliations

A decision aid for additional findings in genomic sequencing: Development and pilot testing

Amanda S Freed et al. Patient Educ Couns. 2021 May.

Abstract

Objective: To describe the development of a web-based, patient-facing decision aid to support patients and research participants to make an informed, values-based decision about whether to receive additional results from genomic sequencing.

Methods: We developed the decision aid following the multi-step process described in the International Patient Decision Aids Standards. This utilized literature review, focus groups, and alpha testing with research participants undergoing clinical genomic sequencing.

Results: The decision aid, the Optional Results Choice Aid (ORCA), includes a seven-question "values clarification exercise," illustrative patient quotes, and summative guidance for the user. The decision aid was found to be highly readable, acceptable and relevant in alpha testing.

Conclusion: We developed a decision aid to support informed, values-based decision making for patients and research participants considering whether to receive additional results from genomic sequencing. ORCA is being implemented in the NHGRI-funded Cancer Health Assessment Reaching Many (CHARM) study, where we are measuring informed values-choice congruence.

Practice implications: ORCA was designed to support patients and research participants to make an informed, values-based decision about whether to receive additional results from genomic sequencing.

Keywords: Decision aid; Decision making; Decision support tools; Exome sequencing; Genomic sequencing; Incidental findings; Informed choice; Secondary findings.

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Figures

Figure 1.
Figure 1.
Multi-step Framework for Development. PAC= patient advisory committee
Figure 2.
Figure 2.
Sample screen shots. These screen shots show part of the values clarification exercise as well as the patient quotes and summative guidance.
See this image and copyright information in PMC

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