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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
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Morstead, T., & DeLongis, A. (2023) · Journal of Genetic Counseling · doi:10.1002/jgc4.1679 · Cited by 5
An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks
Kirby, H. G., Rehm, H., & Hull, L. (2023) · Mayo Clinic proceedings · doi:10.1016/j.mayocp.2023.04.008 · Cited by 2
Bather, J. R., Goodman, M. S., & Kaphingst, K. A. (2025) · Journal of Primary Care & Community Health · doi:10.1177/21501319251342102 · Cited by 2
Nutritional Genomics: Exploration of Personal Genetic Testing in the Classroom
Hansen, J., & Stadler, D. D. (2019) · Journal of the Academy of Nutrition and Dietetics · doi:10.1016/j.jand.2019.02.011 · Cited by 2
Pondering the future of genetic counseling: An adolescent field comes of age
Hercher, L. (2020) · Journal of Genetic Counseling · doi:10.1002/jgc4.1370 · Cited by 2
Private DNA Sequencing: Hiding Information in Discrete Noise
Mazooji, K., Dong, R., & Shomorony, I. (2021) · IEEE Information Theory Workshop (ITW) · doi:10.1109/itw46852.2021.9457681 · Cited by 2
Ethics: Informed Consent, Patient Privacy
Meng, Q., & Xu, Q. F. (2021) · Springer eBooks · doi:10.1007/978-981-16-1037-0_4 · Cited by 2
Garmany, R., Lee, C. J., Sharp, R. R., & Kullo, I. J. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1252 · Cited by 2
Self-citationInclusivity in Medical Education: Teaching Integrative and Alternative Medicine in Kentucky
Blonder, L. (2021) · Springer eBooks · doi:10.1007/978-3-030-62277-0_12
Linnér, R. K., & Koellinger, P. (2020) · medRxiv · doi:10.1101/2020.03.30.20047290 · Cited by 2
‘An invisible injury’: intrapersonal experiences of adults discovering misattributed paternity
Cerfontyne, A., D’Souza, L., & Patlamazoglou, L. (2025) · Journal of Family Studies · doi:10.1080/13229400.2025.2489516 · Cited by 2
Singh, C., Sharma, A., Bishnoi, M., Kondepudi, K. K., & Singh, R. P. (2020) · Springer eBooks · doi:10.1007/978-981-15-2874-3_12 · Cited by 1
Dog guardians and genetic testing: Survey textbox responses & human-animal bond influences
Bennett, N. E., Soto, S., Nicolas-Serrano, J., & Gray, P. B. (2023) · Human-Animal Interactions · doi:10.1079/hai.2023.0020 · Cited by 1
Risks and benefits of direct-to-consumer genetic testing in the reproductive context
Nakano‐Okuno, M., Smith, C. L., & May, T. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-19045-2.00009-x · Cited by 1
Understanding Genetic Testing in Healthy Individuals, and Related Regulations in Korea
Park, K., Kim, Y., Shin, S., Park, I. H., Lee, K., & Kim, J. (2024) · Laboratory Medicine Online · doi:10.47429/lmo.2024.14.3.201 · Cited by 1
Review on How Genetic Innovations Revolutionizing Seed Quality Production
Kumar, A., Srivastava, R. P., Shakshi, Singh, M., & Pathak, M. K. (2024) · Biotechnology Journal International · doi:10.9734/bji/2024/v28i5736 · Cited by 1
Bennett, N. E., Johnson, E. A., & Gray, P. B. (2024) · American Journal of Veterinary Research · doi:10.2460/ajvr.24.09.0265 · Cited by 1
Burcat, K., Cowles, K., Irwin, J., & Martin, C. (2020) · Journal of Consumer Health on the Internet · doi:10.1080/15398285.2020.1792171 · Cited by 1
Online Genetics for Health: An Empirical Investigation of How Users Matter
Khan, S. (2020) · uO Research (University of Ottawa) · doi:10.20381/ruor-24409
Ethical Issues in Multiplex Genetic Testing
Kilbride, M. K., & Bradbury, A. R. (2020) · Wiley eBooks · doi:10.1002/9780470015902.a0005642.pub3
Perioperative evaluation of direct‐to‐consumer genetic testing results
Eklund, S. E. (2021) · Pediatric Anesthesia · doi:10.1111/pan.14149
Federal Regulation of Medication Production
Nahian, A., & Wadhwa, R. (2021) · StatPearls
Universidad Nacional Cordoba, F. O., & Brunotto, M. (2021) · Revista de la Facultad de Odontología · doi:10.25014/revfacodont271.2021.31.1.1
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Mauch, J., Thachil, V., & Tang, W. H. W. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-816861-5.00004-6
Direct-to-Consumer Genetic Testing in South Africa: Stumbling Over the First Legal Hurdle?
Gooden, A., & Thaldar, D. W. (2022) · Potchefstroom Electronic Law Journal/Potchefstroomse Elektroniese Regsblad · doi:10.17159/1727-3781/2022/v25ia11764
Ducournau, P., & Jautrou, H. (2024) · Quaderni · doi:10.4000/12cpt
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil
Penna, L. S., Amemiya, R. B., Pires, T. T., Bonasser, L. S. S., Carvalheira, L. Y., Fridman, C., Mingroni‐Netto, R. C., Naslavsky, M. S., & Filho, R. D. L. (2024) · Journal of Community Genetics · doi:10.1007/s12687-024-00755-2
Physician-mediated genetic testing is direct to consumer in all but name
Kilbride, M. K., & Bradbury, A. R. (2025) · Nature Medicine · doi:10.1038/s41591-025-03840-2
Kilbride, M. K., Chavez‐Yenter, D., Wong, B. G., Roberts, J. S., Park, J. J., Iuliano, J., & Bradbury, A. R. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64169
Genetics and Genetic Counseling in the Internet Age
Gallagher, L., & Ordal, L. (2025) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190069964.013.0022
Specialization and Subspecialization in Genetic Counseling
Wicklund, C. A. L., & Trepanier, A. (2025) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190069964.013.0010
The Genetic Counselor’s Role in Direct-to-Consumer Genetic Testing
Greb, A. E. (2025) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190069964.013.0011
A Serverless Deep Learning Framework for Genetic Trait and Risk Analysis
Srinivaas, S., Siddesh, G. M., S, R. M., K., S. R., & Suhaanth, V. V. (2025) · International Conference on Intelligent Cyber Physical Systems and Internet of Things (ICoICI) · doi:10.1109/icoici65217.2025.11254595
Biomarkers and circulating DNAs as predictive molecular signatures
Tariq, M., & Niazi, A. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-34671-2.00010-4
McKinney, C., Newton, G., Nathan, V., & McInerney-Leo, A. M. (2026) · Clinical Genetics · doi:10.1111/cge.70150
Kumar, A. J., & ., V. (2026) · SSRN Electronic Journal · doi:10.2139/ssrn.6347518
Agrawal, S., Rehan, L., Mazur, G., & Chudek, J. T. (2026) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2026-0679
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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