TY - JOUR

T1 - Which attributes of whole genome sequencing tests are most important to the general population? Results from a German preference study

AU - Plöthner, Marika

AU - Schmidt, Katharina

AU - Schips, Clarissa

AU - Damm, Kathrin

N1 - Funding information: The publication of this article was funded by the Open Access Fund of the Leibniz Universität Hannover. We thank all study participants and thank Editage for assistance in language editing.

PY - 2018/2/14

Y1 - 2018/2/14

N2 - Objective: The aim of this study was to identify the preferences for whole genome sequencing (WGS) tests without genetic counseling. Methods: A discrete choice experiment was conducted where participants chose between two hypothetical alternatives consisting of the following attributes: test accuracy, test costs, identified diseases, probability of disease occurrence, and data access. People from the general German population aged ≥18 years were eligible to participate in the survey. We estimated generalized linear mixed effects models, latent class mixed-logit models, and the marginal willingness to pay. Results: Three hundred and one participants were included in the final analysis. Overall, the most favored WGS testing attributes were 95% test accuracy, report of severe hereditary diseases and 40% probability of disease development, test costs of €1,000, and access to test results for researchers. Subgroup analysis, however, showed differences in these preferences between males and females. For example, males preferred reporting of results at a 10% probability of disease development and females preferred reporting of results at a 40% probability. The test cost, participant’s educational level, and access to data influenced the willingness to participate in WGS testing in reality. Conclusion: The German general population was aware of the importance of genetic research and preferred to provide their own genetic data for researchers. However, among others, the reporting of results with a comparatively relatively low probability of disease development at a level of 40%, and the test accuracy of 95% had a high preference. This shows that the results and consequences of WGS testing without genetic counseling are hard to assess for individuals. Therefore, WGS testing should be supported by qualified genetic counseling, where the attributes and consequences are explained.

AB - Objective: The aim of this study was to identify the preferences for whole genome sequencing (WGS) tests without genetic counseling. Methods: A discrete choice experiment was conducted where participants chose between two hypothetical alternatives consisting of the following attributes: test accuracy, test costs, identified diseases, probability of disease occurrence, and data access. People from the general German population aged ≥18 years were eligible to participate in the survey. We estimated generalized linear mixed effects models, latent class mixed-logit models, and the marginal willingness to pay. Results: Three hundred and one participants were included in the final analysis. Overall, the most favored WGS testing attributes were 95% test accuracy, report of severe hereditary diseases and 40% probability of disease development, test costs of €1,000, and access to test results for researchers. Subgroup analysis, however, showed differences in these preferences between males and females. For example, males preferred reporting of results at a 10% probability of disease development and females preferred reporting of results at a 40% probability. The test cost, participant’s educational level, and access to data influenced the willingness to participate in WGS testing in reality. Conclusion: The German general population was aware of the importance of genetic research and preferred to provide their own genetic data for researchers. However, among others, the reporting of results with a comparatively relatively low probability of disease development at a level of 40%, and the test accuracy of 95% had a high preference. This shows that the results and consequences of WGS testing without genetic counseling are hard to assess for individuals. Therefore, WGS testing should be supported by qualified genetic counseling, where the attributes and consequences are explained.

KW - Discrete choice experiment

KW - Genetic testing

KW - Latent class model

KW - Preferences

KW - Whole genome sequencing

KW - Willingness to pay

UR - http://www.scopus.com/inward/record.url?scp=85044391449&partnerID=8YFLogxK

U2 - 10.2147/PGPM.S149803

DO - 10.2147/PGPM.S149803

M3 - Article

AN - SCOPUS:85044391449

VL - 11

SP - 7

EP - 21

JO - Pharmacogenomics and Personalized Medicine

JF - Pharmacogenomics and Personalized Medicine

ER -