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

PATIENT EDUCATION AND COUNSELING

卷:104

Article

Freed, Amanda S.¹  Gruss, Inga²  McMullen, Carmit K.²  Leo, Michael C.²  Kauffman, Tia L.²  Porter, Kathryn M.⁴  Muessig, Kristin R.²  Eubanks, Donna²  Goddard, Katrina A. B.²  Wilfond, Benjamin S.^3,4  Liles, Elizabeth G.^2,5 

[1] Univ Washington, Sch Med, Dept Med, Div Med Genet, Seattle, WA 98195 USA

[2] Kaiser Permanente Northwest, Dept Translat & Appl Genom, Ctr Hlth Res, Portland, OR USA

[3] Seattle Childrens Hosp & Res Inst, Treuman Katz Ctr Pediat Bioeth, Seattle, WA USA

[4] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA

[5] Kaiser Permanente Northwest, Northwest Permanente, Portland, OR USA

关键词: Decision aid;    Genomic sequencing;    Exome sequencing;    Secondary findings;    Incidental findings;    Decision making;    Decision support tools;    Informed choice;   

DOI  :  10.1016/j.pec.2020.10.038

来源: Elsevier

【 摘 要 】

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. (c) 2020 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

【 授权许可】

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