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A decision aid for additional findings in genomic sequencing: Development and pilot testing
Amanda S Freed1, Inga Gruß2, Carmit K McMullen2
1Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, USA.
Patient Education and Counseling
|November 16, 2020
Summary
A new web-based tool, the Optional Results Choice Aid (ORCA), helps patients and research participants make informed decisions about receiving additional genomic sequencing results. ORCA was found to be readable, acceptable, and relevant during testing.
Area of Science:
- Genomic Medicine
- Bioethics
- Health Informatics
Background:
- Genomic sequencing generates vast amounts of data, including incidental findings.
- Patients and research participants face complex decisions regarding the disclosure of additional genomic results.
- Informed decision-making is crucial for patient autonomy and ethical research practices.
Purpose of the Study:
- To develop and describe a patient-facing, web-based decision aid to support informed, values-based choices about receiving additional genomic sequencing results.
- To create a tool that enhances patient understanding and engagement in genomic data interpretation.
Main Methods:
- Development followed the International Patient Decision Aids Standards.
- Utilized literature review, focus groups, and alpha testing with participants undergoing clinical genomic sequencing.
- Incorporated a values clarification exercise, patient quotes, and user guidance.
Main Results:
- The decision aid, Optional Results Choice Aid (ORCA), was developed.
- Alpha testing indicated the tool is highly readable, acceptable, and relevant to users.
- ORCA includes a seven-question values clarification exercise and illustrative patient quotes.
Conclusions:
- ORCA effectively supports informed, values-based decision-making for genomic sequencing results.
- The tool is being implemented in the NHGRI-funded Cancer Health Assessment Reaching Many (CHARM) study.
- Future work will measure informed values-choice congruence in a real-world setting.
Keywords:
Decision aidDecision makingDecision support toolsExome sequencingGenomic sequencingIncidental findingsInformed choiceSecondary findingsMore Related Videos
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