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OBJECTIVE: We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. METHODS: Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modelled using conditional logit regression analysis. RESULTS: Surveys from 1239 women (Australia: n=178; China: n=179; Denmark: n=88; Netherlands: n=177; Singapore: n=90; Sweden: n=178; UK: n=174; USA: n=175) were analysed. The key attribute affecting preferences was a test with the highest diagnostic yield (p<0.01). Women preferred tests with short turnaround times (p<0.01), and tests reporting variants of uncertain significance (VUS) (p<0.01) and secondary findings (SFs) (p<0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. CONCLUSION: Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable. This article is protected by copyright. All rights reserved.

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Journal article


Prenat Diagn

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