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Updated: Jun 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
An analysis of direct-to-consumer genetic testing portals and their communication of health risk and test limitations
Nicole M Lee1, Matthew S VanDyke2, Alan Abitbol3
1Arizona State University, Tempe, Arizona, USA.
Abstract:
Direct-to-consumer (DTC) genetic testing has become incredibly popular for assessing health risk related to specific diseases. However, how this risk is conveyed and whether the limitations of the tests are fully communicated can impact how customers interpret results. Through a qualitative content analysis of three different DTC genetic testing online portals, we examine how companies communicate relative and absolute health risks, the extent to which limitations are communicated, and how this information is presented. Findings suggest that relative risk was more prominently communicated than absolute risk and that it was used to organize and prioritize results. Further, risk information was often communicated using statistical terms and concepts that may not be accessible to all users. Test limitations that were communicated included the inability to diagnose a disease, the importance of lifestyle factors, and that the tests do not account for all genetic variants. Although companies included this information, it was not visually prominent.
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