The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing
Open accessAbstract
Direct-to-consumer (DTC) genetic testing emerged in the early 2000s as a means of allowing consumers to access information on their genetics without the involvement of a physician. Although early models of DTC were popular with consumers, they were controversial in medical and regulatory circles. In this article, we trace the history of DTC genetic testing, discuss its regulatory implications, and describe the emergence of a new hybrid model we call DTC 2.0.
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“One consequence of these difficulties has been an expanding direct-to-consumer testing market, variably controlled by country-specific regulations150, which is moving beyond a focus on ancestry and personal traits, towards models in which individuals have direct access to ordering physicians and genetic counselors151.”
From A brief history of human disease genetics (2020) · cites this paper as [151]
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The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues
Hogarth, S., Javitt, G. H., & Melzer, D. R. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164319 · Cited by 268
Baars, M. J. H., Henneman, L., & ten Kate, L. P. (2005) · Genetics in Medicine · doi:10.1097/01.gim.0000182895.28432.c7 · Cited by 235
Annas, G. J., & Elias, S. (2014) · New England Journal of Medicine · doi:10.1056/nejmp1316367 · Cited by 134
Direct-to-Consumer Genetic Testing: Perceptions, Problems, and Policy Responses
Caulfield, T., & McGuire, A. L. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-062110-123753 · Cited by 126
Personal utility in genomic testing: is there such a thing?
Bunnik, E. M., Janssens, A. C. J. W., & Schermer, M. (2014) · Journal of Medical Ethics · doi:10.1136/medethics-2013-101887 · Cited by 114
Borry, P., Cornel, M. C., & Howard, H. C. (2010) · Journal of Community Genetics · doi:10.1007/s12687-010-0023-z · Cited by 112
Primary Care Physicians’ Awareness, Experience and Opinions of Direct‐to‐Consumer Genetic Testing
Powell, K. P., Cogswell, W. A., Christianson, C. A., Dave, G., Verma, A. K., Eubanks, S., & Henrich, V. C. (2011) · Journal of Genetic Counseling · doi:10.1007/s10897-011-9390-9 · Cited by 98
Regulation: The FDA is overcautious on consumer genomics
Green, R. C., & Farahany, N. A. (2014) · Nature · doi:10.1038/505286a · Cited by 96
Skirton, H., Goldsmith, L., Jackson, L. M., & O’Connor, A. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01863.x · Cited by 81
Direct‐to‐consumer genetic testing: good, bad or benign?
Caulfield, T., Ries, N. M., Ray, P., Shuman, C. T., & Wilson, B. J. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01291.x · Cited by 78
Cited by
Sorted by citations
A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697
O’Sullivan, J. W., Raghavan, S., Márquez‐Luna, C., Luzum, J. A., Damrauer, S. M., Ashley, E. A., O’Donnell, C. J., Willer, C. J., & Natarajan, P. (2022) · Circulation · doi:10.1161/cir.0000000000001077 · Cited by 443
Privacy challenges and research opportunities for genomic data sharing
Bonomi, L., Huang, Y., & Lucila Ohno-machado, A. (2020) · Nature Genetics · doi:10.1038/s41588-020-0651-0 · Cited by 309
The evolving landscape of expanded carrier screening: challenges and opportunities
Kraft, S. A., Duenas, D. M., Wilfond, B. S., & Goddard, K. A. B. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0273-4 · Cited by 159
Genomics in Personalized Nutrition: Can You “Eat for Your Genes”?
Mullins, V. A., Bresette, W., Johnstone, L. M., Hallmark, B., & Chilton, F. H. (2020) · Nutrients · doi:10.3390/nu12103118 · Cited by 163
Metadata
- Authors
- Allyse, M. A., Robinson, D. H., Ferber, M. J., & Sharp, R. R.
- Affiliations
- Mayo Clinic (US)
- Corresponding author
- Sharp, Richard R.
- Venue
- Mayo Clinic Proceedings
- Publisher
- Elsevier BV
- Published
- 2018-01
- Volume
- 93
- Issue
- 1
- Pages
- 113-120
- ISSN
- 0025-6196 (ISSN-L)
- OpenAlex
- W2781996111
- Cited by
- 139
- References
- 20
- Citations by year
- 2026: 3 · 2025: 13 · 2024: 16 · 2023: 10 · 2022: 18 · 2021: 22 · 2020: 31 · 2019: 18 · 2018: 8
- FWCI
- 13.63
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Mayo Clinic Proceedings (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Center for Individualized Medicine, Mayo Clinic
- Topics
- Health Sciences › Nursing › Issues, ethics and legal aspects › Biomedical Ethics and Regulation
- Social Sciences › Law › Medical and Health Sciences Research
- Social Sciences › Anthropology › Race, Genetics, and Society
- Keywords
- direct-to-consumer genetic testing, genetic testing regulation, hybrid business models, genetic counseling
- MeSH terms
- Direct-To-Consumer Screening and Testing, Computer-Assisted Instruction, Curriculum, Education, Medical, Continuing, Genetic Testing, Humans, Minnesota, History, 21st Century
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