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Informed Consent in Genomics and Genetic Research
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There are several features of genetic and genomic research that challenge established norms of informed consent. In this paper, we discuss these challenges, explore specific elements of informed consent for genetic and genomic research conducted in the United States, and consider alternative consent models that have been proposed. All of these models attempt to balance the obligation to respect and protect research participants with the larger social interest in advancing beneficial research as quickly as possible.
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“The collection, storage, and research use of biospecimens and data, however, raise deep questions about informed consent, oversight, large-scale data sharing, privacy and confidentiality, commercialization, access to research results, and the ability to withdraw (94).”
From Lessons from HeLa Cells: The Ethics and Policy of Biospecimens (2016) · cites this paper as [94]
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Return of individual genomic research results: what do consent forms tell participants?
Pereira, S., Robinson, J. O., & McGuire, A. L. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2016.76 · Cited by 14
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Kengne-Ouafo, J. A., Millard, J., Nji, T. M., Tantoh, W. F., Nyoh, D. N., Tendongfor, N., Enyong, P., Newport, M. J., Davey, G., & Wanji, S. (2015) · International Health · doi:10.1093/inthealth/ihv034 · Cited by 14
Revised Common Rule Changes to the Consent Process and Consent Form
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Akintola, S. (2018) · South African Journal of Bioethics and Law · doi:10.7196/sajbl.2018.v11i1.00601 · Cited by 12
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Towards a Design Toolkit of Informed Consent Models Across Fields: A Systematic Review
Loosman, I., & Nickel, P. J. (2022) · Science and Engineering Ethics · doi:10.1007/s11948-022-00398-x · Cited by 10
Investigator Experiences and Attitudes About Research With Biospecimens
Rivera, S. M., Goldenberg, A. J., Rosenthal, B., Aungst, H., Maschke, K. J., Rothwell, E., Anderson, R. A., Botkin, J. R., & Joffe, S. (2015) · Journal of Empirical Research on Human Research Ethics · doi:10.1177/1556264615610199 · Cited by 10
Ikhane, P. A., Yusuf, T., Adeyemo, O., Ogundiran, T. O., Adebamowo, S. N., & Adebamowo, C. (2025) · Stem Cell Reports · doi:10.1016/j.stemcr.2025.102721 · Cited by 9
Understanding Diverse Perspectives on Genetic Research Through Focus Group Talk
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Metadata
- Authors
- McGuire, A. L., & Beskow, L. M.
- Affiliations
- Baylor College of Medicine (US)
- Duke University (US)
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2010-09-01
- Volume
- 11
- Issue
- 1
- Pages
- 361-381
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- PMC
- PMC3216676
- OpenAlex
- W2129706078
- Cited by
- 204
- References
- 91
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 12 · 2023: 11 · 2022: 19 · 2021: 13 · 2020: 16 · 2019: 14 · 2018: 12 · 2017: 12 · 2016: 17 · 2015: 17 · 2014: 16 · 2013: 10 · 2012: 11
- FWCI
- 1.25
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Funders
- National Institutes of Health
- National Human Genome Research Institute (R01HG004333, R01HG004853)
- National Center for Research Resources (UL1RR024128)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics and bioethics in healthcare
- Social Sciences › Law › Medical and Health Sciences Research
- Keywords
- informed consent, genomic research, genetic research, research ethics, research participant protection, research participant autonomy
- MeSH terms
- Humans, Informed Consent, Specimen Handling, United States, Genetic Research
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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