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A Systematic Review of Discrete Choice Experiments and Conjoint Analysis on Genetic Testing

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Abstract

Background

Although genetic testing has the potential to offer promising medical benefits, concerns regarding its potential negative impacts may influence its acceptance. Users and providers need to weigh the benefits, costs and potential harms before deciding whether to take up or recommend genetic testing. Attribute-based stated-preference methods, such as discrete choice experiment (DCE) or conjoint analysis, can help to quantify how individuals value different features of genetic testing.

Objectives

The aim of this paper was to conduct a systematic review of DCE and conjoint analysis studies on genetic testing, including genomic tests.

Methods

A systematic search was conducted in seven databases: Web of Science, CINAHL Plus with Full Text (EBSCO), PsycINFO, PubMed, Embase, The Cochrane Library and SCOPUS. The search was conducted in February 2021 and was limited to English peer-reviewed articles published until the search date. The search keywords included relevant keywords such as ‘genetic testing’, ‘genomic testing’, ‘pharmacogenetic testing’, ‘discrete choice experiment’ and ‘conjoint analysis’. Narrative synthesis of the studies was conducted on survey population, testing type, recruitment and data collection, survey development, questionnaire content, survey validity, analysis, outcomes and other design features.

Results

Of the 292 articles retrieved, 38 full-text articles were included in this review. Nearly two-thirds of the studies were published since 2015 and all were conducted in high-income countries. Survey samples included patients, parents, general population and healthcare providers. The articles assessed preferences for pharmacogenetic testing (28.9%), predictive testing and diagnostic testing (18.4%), while only one (2.6%) study investigated preferences for carrier testing. The most common sampling method was convenience sampling (57.9%) and the majority recruited participants via web-enabled surveys (60.5%). Review of literature (84.6%), discussions with healthcare professionals (71.8%) and cognitive interviews (53.8%) were commonly used for attribute identification. A survey validity test was included in only one-quarter of the studies (28.2%). Cost attributes were the most studied attribute type (76.9%), followed by risk attributes (61.5%). Among those that reported relative attribute importance, attributes related to benefits were the most commonly reported attributes with the highest relative attribute importance. Preference heterogeneity was investigated in most studies by modelling, such as via mixed logit analysis (82.1%) and/or by using interaction effects with respondent characteristics (74.4%). Willingness to pay was the most commonly estimated outcome and was presented in about two-thirds (n = 25; 64.1%) of the studies.

Conclusion

With the continuous advancement in genetic technology resulting in expanding options for genetic testing and improvements in delivery methods, the application of genetic testing in clinical care is expected to rise. DCEs and conjoint analysis remain robust and useful methods to elicit preferences of potential stakeholders. This review serves as a summary for future researchers when designing similar studies.

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Authors and Affiliations

  1. Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore

    Semra Ozdemir, Jia Jia Lee, Isha Chaudhry & Remee Rose Quintana Ocampo

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  1. Semra Ozdemir
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Correspondence to Semra Ozdemir.

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Funding

This study was funded by the Lien Centre for Palliative Care, Duke-NUS Medical School, Singapore.

Conflict of interest/Competing interests

The authors declare that they have no competing interests.

Availability of data and material

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

Code availability

The code used for this study is available from the corresponding author on reasonable request.

Authors’ contributions

SO participated in the conception of the study, study design, data extraction, data analysis and manuscript writing. All other authors participated in the data extraction, data analysis and manuscript writing. All authors read and approved the final manuscript.

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Ozdemir, S., Lee, J.J., Chaudhry, I. et al. A Systematic Review of Discrete Choice Experiments and Conjoint Analysis on Genetic Testing. Patient 15, 39–54 (2022). https://doi.org/10.1007/s40271-021-00531-1

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