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Updated: May 30, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Direct-to-consumer personalized genomic testing.
Cinnamon S Bloss1, Burcu F Darst, Eric J Topol
1Scripps Genomic Medicine, Scripps Health, Scripps Translational Science Institute, 3344 N. Torrey Pines Court, La Jolla, CA 92037, USA
Direct-to-consumer (DTC) genomic testing is rapidly evolving, yet empirical research on its impact and use lags behind. More studies are needed to understand consumer behavior and the implications of genetic information.
Area of Science:
- Genomics
- Bioethics
- Consumer Health
Background:
- Direct-to-consumer (DTC) genomic testing has seen significant advancements, particularly concerning US governmental regulation.
- Commentaries on DTC genomic testing are abundant, but empirical research is limited.
- Existing research primarily focuses on uptake, perceptions, and attitudes toward disease susceptibility testing.
Purpose of the Study:
- To highlight the scarcity of empirical research on the behavioral responses to DTC genetic testing for various purposes (disease susceptibility, ancestry, drug response).
- To emphasize the urgent need for further research in this rapidly evolving field.
- To underscore the importance of understanding the delivery, impact, and use of individualized genomic data.
Main Methods:
- Review of existing literature on direct-to-consumer genomic testing.
- Identification of research gaps concerning consumer behavioral response.
- Analysis of the current landscape of DTC genomic testing and its future implications.
Main Results:
- Limited empirical studies exist on consumer behavioral responses to DTC genetic testing.
- Research on ancestry and drug response testing is particularly scarce.
- The field is evolving rapidly, posing challenges for research design.
Conclusions:
- Further research is critically needed to address the knowledge gaps in DTC genomic testing.
- Understanding the impact and use of individualized genomic data is essential.
- DTC genomic testing is a precursor to widespread whole genome sequencing, necessitating continued investigation.
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