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The Tension Between Data Sharing and the Protection of Privacy in Genomics Research
Open accessAbstract
Next-generation sequencing and global data sharing challenge many of the governance mechanisms currently in place to protect the privacy of research participants. These challenges will make it more difficult to guarantee anonymity for participants, provide information to satisfy the requirements of informed consent, and ensure complete withdrawal from research when requested. To move forward, we need to improve the current governance systems for research so that they are responsive to individual privacy concerns but can also be effective at a global level. We need to develop a system of e-governance that can complement existing governance systems but that places greater reliance on the use of technology to ensure compliance with ethical and legal requirements. These new governance structures must be able to address the concerns of research participants while at the same time ensuring effective data sharing that promotes public trust in genomics research.
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“Data privacy is an important concern when it comes to genomic data.19,20”
From CLASTR: The Cellosaurus STR similarity search tool ‐ A precious help for cell line authentication (2020) · cites this paper as [20]
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“For instance, the advancements towards privacy-enabled networks and infrastructures puzzles some academics [75] who afraid that the same mechanisms have been put in place to protect the privacy of data (like de-identification) may actually make it very difficult to trace and remove individual derived data in order to allow participants to withdraw completely their consent and be forgotten.”
From Forgetting personal data and revoking consent under the GDPR: Challenges and proposed solutions (2018) · cites this paper as [75]
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“In such situations, as Kaye [75] underscores, it may be only possible to prohibit the entry of new information and samples into the system.”
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Cites
Cook, R. J., Dickens, B. M., & Fathalla, M. F. (2003) · Oxford University Press eBooks · doi:10.1093/acprof:oso/9780199241323.003.0025 · Cited by 10,825
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
The Human Genome Project: Lessons from Large-Scale Biology
Collins, F. S., Morgan, M., & Patrinos, A. (2003) · Science · doi:10.1126/science.1084564 · Cited by 1,284
Homer, N., Szelinger, S., Redman, M., Duggan, D., Tembe, W., Muehling, J., Pearson, J. V., Stephan, D. A., Nelson, S. F., & Craig, D. W. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000167 · Cited by 1,221
A decade’s perspective on DNA sequencing technology
Mardis, E. R. (2011) · Nature · doi:10.1038/nature09796 · Cited by 965
Little, J., Higgins, J. P. T., Ioannidis, J. P. A., Moher, D., Gagnon, F., von Elm, E., Khoury, M. J., Cohen, B., Davey-Smith, G., Grimshaw, J., et al. (2009) · PLoS Medicine · doi:10.1371/journal.pmed.1000022 · Cited by 811
Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations
Wolf, S. M., Lawrenz, F. P., Nelson, C. A., Kahn, J. P., Cho, M. K., Clayton, E. W., Fletcher, J. G., Georgieff, M., Hammerschmidt, D. E., Hudson, K., et al. (2008) · The Journal of Law Medicine & Ethics · doi:10.1111/j.1748-720x.2008.00266.x · Cited by 710
the eMERGE Team, McCarty, C. A., Chisholm, R. L., Chute, C. G., Kullo, I. J., Jarvik, G. P., Larson, E. B., Li, R., Masys, D. R., Ritchie, M. D., et al. (2011) · BMC Medical Genomics · doi:10.1186/1755-8794-4-13 · Cited by 701
Assessment of cumulative evidence on genetic associations: interim guidelines
Ioannidis, J. P. A., Boffetta, P., Little, J., O'Brien, T. R., Uitterlinden, A. G., Vineis, P., Balding, D. J., Chokkalingam, A. P., Dolan, S. M., Flanders, W. D., et al. (2007) · International Journal of Epidemiology · doi:10.1093/ije/dym159 · Cited by 554
The Human Genome Project: Past, Present, and Future
Watson, J. D. (1990) · Science · doi:10.1126/science.2181665 · Cited by 537
Bioinformatics challenges of new sequencing technology
Pop, M., & Salzberg, S. L. (2008) · Trends in Genetics · doi:10.1016/j.tig.2007.12.006 · Cited by 532
From genetic privacy to open consent
Lunshof, J. E., CHADWICK, R. F., Vorhaus, D. B., & Church, G. M. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2360 · Cited by 479
What makes a good genetic association study?
Hattersley, A. T., & McCarthy, M. I. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67531-9 · Cited by 471
A Mouse Model for the Metabolic Effects of the Human Fat Mass and Obesity Associated FTO Gene
Church, C., Lee, S., Bagg, E. A. L., McTaggart, J. S., Deacon, R. M. J., Gerken, T., Lee, A., Moir, L., Mecinović, J., Quwailid, M. M., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000599 · Cited by 333
Manolio, T. A., Rodriguez, L. L., Brooks, L., Guttmacher, A. E., Harris, E. L., Collins, F. S., Abecasis, G. R., Ballinger, D. G., Frazer, K. A., Daly, M. J., et al. (2007) · Nature Genetics · doi:10.1038/ng2127 · Cited by 321
OECD Principles and Guidelines for Access to Research Data from Public Funding
Pilat, D., & Fukasaku, Y. (2007) · Data Science Journal · doi:10.2481/dsj.6.od4 · Cited by 301
Data sharing in genomics — re-shaping scientific practice
Kaye, J. S., Heeney, C., Hawkins, N., de Vries, J., & Boddington, P. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2573 · Cited by 299
Self-citationFrom patients to partners: participant-centric initiatives in biomedical research
Kaye, J., Curren, L., Anderson, N., Edwards, K., Fullerton, S. M., Kanellopoulou, N., Lund, D., MacArthur, D. G., Mascalzoni, D., Shepherd, J., et al. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3218 · Cited by 293
Self-citationInformed Consent for Population-Based Research Involving Genetics
Beskow, L. M. (2001) · JAMA · doi:10.1001/jama.286.18.2315 · Cited by 275
Authors, T. I. D. R. W. (2009) · Nature · doi:10.1038/461168a · Cited by 269
Research ethics and the challenge of whole-genome sequencing
McGuire, A. L., Caulfield, T., & Cho, M. K. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2302 · Cited by 267
Burton, P. R., Hansell, A., Fortier, I., Manolio, T. A., Khoury, M. J., Little, J., & Elliott, P. (2008) · International Journal of Epidemiology · doi:10.1093/ije/dyn147 · Cited by 266
The social and ethical issues of post-genomic human biobanks
Cambon‐Thomsen, A. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1473 · Cited by 242
Who Shares? Who Doesn't? Factors Associated with Openly Archiving Raw Research Data
Piwowar, H. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018657 · Cited by 235
The Immortal Life of Henrietta Lacks
Hoda, S. A. (2010) · Advances in Anatomic Pathology · doi:10.1097/pap.0b013e3181f89591 · Cited by 211
The Charitable Trust as a Model for Genomic Biobanks
Winickoff, D. E., & Winickoff, R. N. (2003) · New England Journal of Medicine · doi:10.1056/nejmsb030036 · Cited by 169
Coding and Consent: Moral Challenges of the Database Project in Iceland
Árnason, V. (2004) · Bioethics · doi:10.1111/j.1467-8519.2004.00377.x · Cited by 160
From consent to institutions: Designing adaptive governance for genomic biobanks
O’Doherty, K. C., Burgess, M., Edwards, K., Gallagher, R. P., Hawkins, A. K., Kaye, J. S., McCaffrey, V., & Winickoff, D. E. (2011) · Social Science & Medicine · doi:10.1016/j.socscimed.2011.05.046 · Cited by 159
Self-citationGlad You Asked: Participants' Opinions of Re-Consent for DbGap Data Submission
Ludman, E. J., Fullerton, S. M., Spangler, L., Trinidad, S. B., Fujii, M., Jarvik, G. P., Larson, E. B., & Burke, W. (2010) · Journal of Empirical Research on Human Research Ethics · doi:10.1525/jer.2010.5.3.9 · Cited by 144
Ethical, Legal, and Social Implications of Biobanks for Genetics Research
Haga, S. B., & Beskow, L. M. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00418-x · Cited by 140
Corrigan, O. (2004) · Routledge eBooks · doi:10.4324/9780203577929 · Cited by 139
On Jim Watson's APOE status: genetic information is hard to hide
Nyholt, D. R., Yu, C., & Visscher, P. M. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.198 · Cited by 137
Tabor, H. K., Berkman, B. E., Hull, S. C., & Bamshad, M. J. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34357 · Cited by 136
Assessing the Privacy Risks of Data Sharing in Genomics
Heeney, C., Hawkins, N., de Vries, J., Boddington, P., & Kaye, J. S. (2010) · Public Health Genomics · doi:10.1159/000294150 · Cited by 125
Self-citationGenomics, Health Care, and Society
Hudson, K. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010517 · Cited by 125
From single biobanks to international networks: developing e-governance
Kaye, J. S. (2011) · Human Genetics · doi:10.1007/s00439-011-1063-0 · Cited by 121
Self-citationBroad Consent in Biobanking: Reflections on Seemingly Insurmountable Dilemmas
Caulfield, T., & Kaye, J. S. (2009) · Medical Law International · doi:10.1177/096853320901000201 · Cited by 118
Self-citationBeyond Consent: Seeking Justice in Research
Kahn, J. P., Mastroianni, A. C., & Sugarman, J. (2018) · Cited by 117
Malin, B., Karp, D. R., & Scheuermann, R. H. (2010) · Journal of Investigative Medicine · doi:10.2310/jim.0b013e3181c9b2ea · Cited by 116
An investigation of patients’ motivations for their participation in genetics-related research
Hallowell, N., Cooke, S. C. S., Crawford, G., Lucassen, A., Parker, M. J., & Snowdon, C. (2009) · Journal of Medical Ethics · doi:10.1136/jme.2009.029264 · Cited by 115
Health-Information Altruists — A Potentially Critical Resource
Kohane, I. S., & Altman, R. B. (2005) · New England Journal of Medicine · doi:10.1056/nejmsb051220 · Cited by 110
DNA data sharing: research participants' perspectives
McGuire, A. L., Hamilton, J. A., Lunstroth, R., McCullough, L. B., & Goldman, A. M. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31815f1e00 · Cited by 108
Public Access to Genome-Wide Data: Five Views on Balancing Research with Privacy and Protection
Church, G. M., Heeney, C., Hawkins, N., de Vries, J., Boddington, P., Kaye, J. S., Bobrow, M., & Weir, B. S. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000665 · Cited by 92
Self-citationResearch Practice and Participant Preferences: The Growing Gulf
Trinidad, S. B., Fullerton, S. M., Ludman, E. J., Jarvik, G. P., Larson, E. B., & Burke, W. (2011) · Science · doi:10.1126/science.1199000 · Cited by 87
Dalton, R. (2004) · Nature · doi:10.1038/430500a · Cited by 83
Gift Relationships in Genetics Research
Tutton, R. (2002) · Science as Culture · doi:10.1080/0950543022000028965 · Cited by 83
Rodriguez, H., Snyder, M., Uhlén, M., Andrews, P., Beavis, R. C., Borchers, C. H., Chalkley, R. J., Cho, S. Y., Cottingham, K., Dunn, M. J., et al. (2009) · Journal of Proteome Research · doi:10.1021/pr900023z · Cited by 83
GENETIC DATABASES: SOCIO-ETHICAL ISSUES IN THE COLLECTION AND USE OF DNA
Nõmper, A. (2004) · SCRIPTed A Journal of Law Technology & Society · doi:10.2966/scrip.010304.510 · Cited by 81
McGuire, A. L., Basford, M., Dressler, L. G., Fullerton, S. M., Koenig, B. A., Li, R., McCarty, C. A., Ramos, E., Smith, M. E., Somkin, C. P., et al. (2011) · Genome Research · doi:10.1101/gr.120329.111 · Cited by 76
Genomics and Privacy: Implications of the New Reality of Closed Data for the Field
Greenbaum, D. S., Sboner, A., Mu, X. J., & Gerstein, M. (2011) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1002278 · Cited by 76
Data sharing: not as simple as it seems
Pearce, N. E., & Smith, A. H. (2011) · Environmental Health · doi:10.1186/1476-069x-10-107 · Cited by 61
Human genomes, public and private
(2001) · Nature · doi:10.1038/35057454 · Cited by 61
Gitschier, J. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.01.018 · Cited by 57
Principles and Practice in Biobank Governance
Laurie, G. T., Hunt, A., & Richards, M. G. (2009) · Ashgate Publishing eBooks · Cited by 56
Genomic Research and Incidental Findings
Ness, B. V. (2008) · The Journal of Law Medicine & Ethics · doi:10.1111/j.1748-720x.2008.00272.x · Cited by 55
Partnership in U.K. Biobank: A Third Way for Genomic Property?
Winickoff, D. E. (2007) · The Journal of Law Medicine & Ethics · doi:10.1111/j.1748-720x.2007.00166.x · Cited by 44
Human genome at ten: Science after the sequence
Butler, D. (2010) · Nature · doi:10.1038/4651000a · Cited by 44
(1998) · doi:10.1093/oso/9780195113532.001.0001 · Cited by 44
Principles and Practice in Biobank Governance
Stranger, M. (2016) · Routledge eBooks · doi:10.4324/9781315602158 · Cited by 43
Sample, Data Use and Protection in Biobanking in Europe: Legal Issues
Zika, E., den Bäumen, T. S. I., Kaye, J. S., Brand, A. M., & Ibarreta, D. (2008) · Pharmacogenomics · doi:10.2217/14622416.9.6.773 · Cited by 42
Self-citationLaurie, G. T., Mallia, P., Frenkel, D. A., Krajewska, A., Moniz, H., Nordal, S., Pitz, C., & Sandor, J. M. (2010) · Medical Law International · doi:10.1177/096853321001000404 · Cited by 40
Governing Biobanks : Understanding the Interplay between Law and Practice
Kaye, J. S. (2012) · Hart Publishing eBooks · doi:10.5040/9781472565846 · Cited by 39
Potential for Revealing Individual-Level Information in Genome-wide Association Studies
Lumley, T. (2010) · JAMA · doi:10.1001/jama.2010.120 · Cited by 38
Untapped Potential: IRB Guidance for the Ethical Research Use of Stored Biological Materials
Wolf, L. E., & Lo, B. (2004) · IRB Ethics and Human Research · doi:10.2307/3563696 · Cited by 35
Gibbs, R. A. (2005) · Nature · doi:10.1038/4371233a · Cited by 32
Knoppers, B. M., & Joly, Y. (2007) · Trends in biotechnology · doi:10.1016/j.tibtech.2007.04.006 · Cited by 30
Withdrawing from Research: A Rethink in the Context of Research Biobanks
Holm, S. (2011) · Health Care Analysis · doi:10.1007/s10728-011-0194-8 · Cited by 29
Governing biobanks: understanding the interplay between law and practice
Kaye, J. S. (2012) · Hart eBooks · Cited by 24
Self-citationGenomics, Health Care, and Society
Hudson, K. (2012) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e3182439ec9 · Cited by 24
Blood donation for genetic research: what can we learn from donors’ narratives?
Busby, H. (2004) · DigitalGeorgetown (Georgetown University Library) · doi:10.4324/9780203577929-8 · Cited by 24
Anderson, N., & Edwards, K. (2010) · doi:10.1145/1920320.1920323 · Cited by 21
Biobanken und Biomolekulare Ressourcen Forschungsinfrastruktur (BBMRI)
Viertler, C., & Zatloukal, K. (2008) · Der Pathologe · doi:10.1007/s00292-008-1048-5 · Cited by 21
The Challenges of Achieving Open Source Sharing of Biobank Data
Gitter, D. M. (2010) · Biotechnology Law Report · doi:10.1089/blr.2010.9909 · Cited by 21
Temporal Trends in Results Availability from Genome-Wide Association Studies
Johnson, A. D., Leslie, R., & O’Donnell, C. J. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002269 · Cited by 18
Consent Forms in Genomics: The Difference between Law and Practice
Gowans, H., Kanellopoulou, N., Hawkins, N., Curren, L., Melham, K., Kaye, J. S., & Boddington, P. (2011) · European Journal of Health Law · doi:10.1163/157180911x598744 · Cited by 17
Self-citationWithdrawing from Participating in a Biobank — A Comparative Study
Gertz, R. (2008) · European Journal of Health Law · doi:10.1163/157180908x338269 · Cited by 13
Free genome databases finally defeat Celera
Marris, E. (2005) · Nature · doi:10.1038/435006a · Cited by 11
Mardis, E. R., & Lunshof, J. E. (2009) · Personalized Medicine · doi:10.2217/pme.09.63 · Cited by 9
Commentary: How small is small?
Day, N. (2008) · International Journal of Epidemiology · doi:10.1093/ije/dyn232 · Cited by 8
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Metadata
- Authors
- Kaye, J.
- Affiliations
- University of Oxford (GB)
- Corresponding author
- Kaye, Jane
- ORCID
- Kaye, Jane
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2012-09-22
- Volume
- 13
- Issue
- 1
- Pages
- 415-431
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- PMC
- PMC4337968
- OpenAlex
- W2156908711
- Cited by
- 240
- References
- 79
- Citations by year
- 2026: 5 · 2025: 17 · 2024: 12 · 2023: 16 · 2022: 4 · 2021: 20 · 2020: 18 · 2019: 16 · 2018: 21 · 2017: 22 · 2016: 35 · 2015: 22 · 2014: 19 · 2013: 11 · 2012: 2
- FWCI
- 1.55
- 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)
- Funders
- Wellcome Trust (096599/2/11/Z, 096599)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Physical Sciences › Computer Science › Information Systems › Research Data Management Practices
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics and bioethics in healthcare
- Keywords
- data sharing, privacy preservation, genomics, research participant privacy, anonymity, informed consent, withdrawal from research, research governance, digital governance, next-generation sequencing, public trust
- MeSH terms
- Humans, Informed Consent, International Cooperation, Tissue Banks, Genome, Human, Ethics Committees, Sequence Analysis, DNA, Genomics, Ethical Review, Genetic Privacy, Information Dissemination
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