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Third party interpretation of raw genetic data: an ethical exploration
Open accessAbstract
In the wake of recent regulations targeting direct-to-consumer genetic testing (DTC-GT), an increasing number of websites have emerged that offer consumers alternative means to derive health information from their DTC-GT raw data. While the ethical concerns associated with DTC-GT have been extensively discussed in the literature, the implications of third party interpretation (TPI) websites have remained largely unexplored. Here we sought to describe these services and elucidate their ethical implications in the context of the current DTC-GT debate. We reviewed five popular TPI websites that use SNP-based genomic data to report health-related information: Promethease, Interpretome, LiveWello, Codegen.eu, and Enlis Personal. We found that many of the ethical concerns previously described in DTC-GT also applied to TPI websites, including inadequate informed consent, questionable clinical validity and utility, and lack of medical supervision. However, some concerns about data usage and privacy reported in DTC-GT were less prominent in the five TPI websites we studied: none of them sold or shared user data, and 3/5 sites did not retain data in the long term. In addition, while exaggerated claims and inaccurate advertising have been frequently problematic in DTC-GT, advertising was minimal in the TPI sites we assessed, and 4/5 made no claims of health benefits. Overall, TPI adds a new dimension to the ethical debate surrounding DTC-GT, and awareness of these services will become increasingly important as personal genomics continues to expand. This study constitutes the first detailed ethical analysis of these services, and presents a starting point for further research and ethical reflection.
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“One recent study on such third-party companies found that several operate by querying publicly available databases, such as dbSNP, and reporting the classification provided in the database, despite reports that the majority of classifications in some publicly available databases are incorrect.6,7”
From False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care (2018) · cites this paper as [6]
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Daly, M. B., Pilarski, R., Yurgelun, M. B. B., Berry, M. P., Buys, S. S., Dickson, P., Domchek, S. M., Elkhanany, A. M., Friedman, S., Garber, J. E., et al. (2020) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2020.0017 · Cited by 517
Tandy-Connor, S., Guiltinan, J., Krempely, K., LaDuca, H., Reineke, P., Gutierrez, S., Gray, P., & Tippin Davis, B. (2018) · Genetics in Medicine · doi:10.1038/gim.2018.38 · Cited by 273
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Metadata
- Authors
- Badalato, L., Kalokairinou, L., & Borry, P.
- Affiliations
- Children's Hospital of Eastern Ontario (CA)
- KU Leuven (BE)
- Corresponding author
- Borry, Pascal
- Venue
- European Journal of Human Genetics
- Published
- 2017-08-23
- Volume
- 25
- Issue
- 11
- Pages
- 1189-1194
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC5643961
- OpenAlex
- W2747836226
- Cited by
- 61
- References
- 28
- Citations by year
- 2025: 3 · 2024: 2 · 2023: 5 · 2022: 3 · 2021: 8 · 2020: 15 · 2019: 16 · 2018: 7 · 2017: 2
- FWCI
- 1.34
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Lirias (submittedVersion, other-oa)
- Funders
- European Commission
- Topics
- Health Sciences › Nursing › Issues, ethics and legal aspects › Biomedical Ethics and Regulation
- Social Sciences › Law › Medical and Health Sciences Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Keywords
- direct-to-consumer genetic testing, personal genomics, informed consent, medical supervision, genetic privacy, advertising claims
- MeSH terms
- Direct-To-Consumer Screening and Testing, Genetic Testing, Humans, Genome-Wide Association Study
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- Badalato, L., Kalokairinou, L., & Borry, P. (2017). Third party interpretation of raw genetic data: an ethical exploration. European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2017.126
