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

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.