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Informed Consent in Translational Genomics: Insufficient Without Trustworthy Governance

Published online by Cambridge University Press:  01 January 2021

Wylie Burke ,
Laura M. Beskow ,
Susan Brown Trinidad ,
Stephanie M. Fullerton  and
Kathleen Brelsford
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Abstract

Neither the range of potential results from genomic research that might be returned to participants nor future uses of stored data and biospecimens can be fully predicted at the outset of a study. Informed consent procedures require clear explanations about how and by whom decisions are made and what principles and criteria apply. To ensure trustworthy research governance, there is also a need for empirical studies incorporating public input to evaluate and strengthen these processes.

Type
Symposium Articles
Information
Journal of Law, Medicine & Ethics , Volume 46 , Issue 1: The Future of Informed Consent in Research & Translational Medicine: A Century of Law, Ethics & Innovation , Spring 2018 , pp. 79 - 86
Copyright
Copyright © American Society of Law, Medicine and Ethics 2018

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References

Biesecker, L. G. and Green, R. C., “Diagnostic Clinical Genome and Exome Sequencing,” New England Journal of Medicine 370, no. 25 (2014): 2418–2425; H. L. Rehm, “Evolving Health Care Through Personal Genomics,” Nature Reviews Genetics 18, no. 4 (2017): 259-267.CrossRefGoogle Scholar
Cardon, L. R. and Harris, T., “Precision Medicine, Genomics and Drug Discovery,” Human Molecular Genetics 25, no. R2 (2016): R166–R172; M. Pirmohamed, “Personalized Pharmacogenomics: Predicting Efficacy and Adverse Drug Reactions,” Annual Review of Genomics and Human Genetics 15 (2014): 349-370.CrossRefGoogle Scholar
Blanchard, A., “Mapping Ethical and Social Aspects of Cancer Biomarkers,” Nature Biotechnology 33, no. 6 (2016): 763–772; P. L. Sankar and L. S. Parker, “The Precision Medicine Initiative's All of Us Research Program: An Agenda for Research on its Ethical, Legal, and Social Issues,” Genetics in Medicine 19, no. 7 (2017): 743-750.Google Scholar
Berg, J. S. et al. and Members of the CSER Actionability and Return of Results Working Group, “Processes and Preliminary Outputs for Identification of Actionable Genes as Incidental Findings in Genomic Sequence Data in the Clinical Sequencing Exploratory Research Consortium,” Genetics in Medicine 15, no. 11 (2013): 860–867; L. G. Biesecker, “Opportunities and Challenges for the Integration of Massively Parallel Genomic Sequencing into Clinical Practice: Lessons from the ClinSeq Project,” Genetics in Medicine 14, no. 4 (2012): 393-398.CrossRefGoogle Scholar
Amendola, L. M. et al., “Actionable Exomic Incidental Findings in 6503 Participants: Challenges of Variant Classification,” Genome Research 25, no. 3 (2015): 305–315.Google Scholar
Frebourg, T., “The Challenge for the Next Generation of Medical Geneticists,” Human Mutation 35, no. 8 (2014): 909–911.Google Scholar
Green, R. C. et al. and the American College of Medical Genetics and Genomics, “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing,” Genetics in Medicine 15, no. 7 (2013): 565–574; L. G. Biesecker, “ACMG Secondary Findings 2.0,” Genetics in Medicine 19, no. 5 (2017): 604.CrossRefGoogle Scholar
Jarvik, G. P. et al. and members of the CSER Act-ROR Working Group, “Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices in Between,” American Journal of Human Genetics 94, no. 6 (2014): 818–826; S. M. Wolf, “Return of Individual Research Results and Incidental Findings: Facing the Challenges of Translational Science,” Annual Review of Genomics and Human Genetics 14 (2013): 557-577; National Heart, Lung, and Blood Institute Working Group and R. R. Fabsitz et al., “Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants: Updated Guidelines from a National Heart, Lung, and Blood Institute Working Group,” Circulation Cardiovascular Genetics 3, no. 6 (2010): 574-580.CrossRefGoogle Scholar
Green, R. C. et al. and the Clinical Sequencing Exploratory Research Consortium, “Accelerating the Evidence-Based Practice of Genomic Medicine,” American Journal of Human Genetics 99, no. 1 (2016): 1051–1066.CrossRefGoogle Scholar
Biesecker, L. G., “Incidental Variants Are Critical for Genomics,” American Journal of Human Genetics 92, no. 5 (2013): 648–651.CrossRefGoogle Scholar
See Jarvik et al., supra note 8.Google Scholar
Beskow, L. M. and Burke, W., “Offering Individual Genetic Research Results: Context Matters,” Science Translational Medicine 2, no. 38 (2010): 38cm20.CrossRefGoogle Scholar
Hollands, G. J. et al., “The Impact of Communicating Genetic Risks of Disease on Risk-reducing Health Behaviour: Systematic Review with Meta-analysis,” British Medical Journal 352 (2016): i1102; doi: 10.1136/bmj.i1102.Google Scholar
Kaufman, D. et al., “Subjects Matter: A Survey of Public Opinions about a Large Genetic Cohort Study,” Genetics in Medicine 10, no. 11 (2008): 831–839; D. Wendler and E. Emanuel, “The Debate over Research on Stored Biological Samples: What do Sources Think?” Archives of Internal Medicine 162, no. 13 (2002): 1457-1462.CrossRefGoogle Scholar
Bollinger, J. M. et al., “Public Preferences for the Return of Research Results in Genetic Research: A Conjoint Analysis,” Genetics in Medicine 16, no. 12 (2014): 932–939; F. M. Facio et al., “Intentions to Receive Individual Results from Whole-genome Sequencing among Participants in the Clin-Seq Study,” European Journal of Human Genetics 21, no. 3 (2013): 261-265; C. S. Bennette et al., “The Cost-effectiveness of Returning Incidental Findings from Next-generation Genomic Sequencing,” Genetics in Medicine 17, no. 7 (2015): 587-595.CrossRefGoogle Scholar
See Kaufman et al., supra note 14; see Wendler and Emanuel, supra note 14.Google Scholar
See Kaufman et al., supra note 14, at 835.Google Scholar
Murphy, J. et al., “Public Expectations for Return of Results from Large-cohort Genetic Research,” American Journal of Bioethics 8, no. 11 (2008): 36–43; L. M. Beskow and S. J. Smolek, “Prospective Biorepository Participants' Perspectives on Access to Research Results,” Journal of Empirical Research in Human Research Ethics 4, no. 3 (2009): 99-111; S. Daack-Hirsch et al., “‘Information is Information’: A Public Perspective on Incidental Findings in Clinical and Research Genome-based Testing,” Clinical Genetics 84, no. 1 (2013): 11-18.Google Scholar
Beskow, L. M. et al., “Research Participants’ Perspectives on Genotype-driven Research Recruitment,” Journal of Empirical Research on Human Research Ethics 6, no. 4 (2011): 3–20; see also Murphy et al., supra note 18; see also Daack-Hirsch et al., supra note 18.Google Scholar
Beskow, L. M. and Dean, E., “Informed Consent for Bioreposi-tories: Assessing Prospective Participants' Understanding and Opinions,” Cancer Epidemiology Biomarkers and Prevention 17, no. 6 (2008): 1440–1451. See also Beskow and Smolek, supra note 18.Google Scholar
Bollinger, J. M. et al., “Public Preferences Regarding the Return of Individual Genetic Research Results: Findings from a Qualitative Focus Group Study,” Genetics in Medicine 14, no. 4 (2012): 451–457, at 453.CrossRefGoogle Scholar
Loewenstein, G., “The Psychology of Curiosity: A Review and Reinterpretation,” Psychological Bulletin 116, no. 1 (1994): 75–98, at 91.Google Scholar
Wendler, D. and Pentz, R., “How Does the Collection of Genetic Test Results Affect Research Participants?” American Journal of Medical Genetics Part A 143A (2007): 1733–1738.CrossRefGoogle Scholar
Id., at 1736.Google Scholar
Henderson, G. E. et al., “The Challenge of Informed Consent and Return of Results in Translational Genomics: Empirical Analysis and Recommendations,” Journal of Law, Medicine & Ethics 42, no. 3 (2014): 344–355; P. S. Appelbaum et al., “Models of Consent to Return of Incidental Findings in Genomic Research,” Hastings Center Report 44, no. 4 (2014): 22-32.CrossRefGoogle Scholar
See Appelbaum et al., supra note 25.Google Scholar
NIH Sharing Policies and Related Guidance on NIH-funded Research Resources, available at <https://grants.nih.gov/policy/sharing.htm> (last visited May 28, 2017).+(last+visited+May+28,+2017).>Google Scholar
Ramos, E. M. et al., “A Mechanism for Controlled Access to GWAS Data: Experience of the GAIN Data Access Committee,” American Journal of Human Genetics 92, no. 4 (2013): 479–488; K. A. Tryka et al., “NCBI's Database of Genotypes and Phenotypes: dbGaP,” Nucleic Acids Research 42, Database issue (2014): D975-D979.CrossRefGoogle Scholar
Wong, K. M. et al., “The dbGaP Data Browser: A New Tool for Browsing dbGaP Controlled-Access Genomic Data,” Nucleic Acids Research 45, no. D1 (2017): D819–D826.Google Scholar
Okbay, A. et al., “Genome-wide Association Study Identifies 74 Loci Associated with Educational Attainment,” Nature 533, no. 7604 (2016): 539–542; C. A. Rietveld et al., “Common Genetic Variants Associated with Cognitive Performance Identified Using the Proxy-Phenotype Method,” Proceedings of the National Academy of Science 111, no. 38 (2014): 13790-13794.CrossRefGoogle Scholar
Piffer, D., “A Review of Intelligence GWAS Hits: Their Relationship to Country IQ and the Issue of Spatial Autocorrelation,” Intelligence 53 (2015): 43–50.CrossRefGoogle Scholar
Hatemi, P. K. et al., “Genetic Influences on Political Ideologies: Twin Analyses of 19 Measures of Political Ideologies from Five Democracies and Genome-Wide Findings from Three Populations,” Behavioral Genetics 44, no. 3 (2014): 282–294.CrossRefGoogle Scholar
Haberstick, B. C. et al., “MAOA Genotype, Childhood Mal-treatment, and Their Interaction in the Etiology of Adult Antisocial Behaviors,” Biological Psychiatry 75, no. 1 (2014): 25–30.CrossRefGoogle Scholar
Fullerton, S. M. and Lee, S. S-J., “Secondary Uses and the Governance of De-identified Data: Lessons from the Human Genome Diversity Panel,” BMC Medical Ethics 12 (2011): 16; doi: 10.1186/1472-6939-12-16.Google Scholar
Department of Homeland Security et al., “Final Revisions to the Common Rule,” Federal Register 82, no. 12 (2017): 7149–7274, available at <https://www.hhs.gov/ohrp/regulations-and-policy/regulations/finalized-revisions-common-rule/index.html> (last visited May 28, 2017).+(last+visited+May+28,+2017).>Google Scholar
Id., sec__. 116(d)(2), at 7267.Google Scholar
Id., sec__. 116(d)(5), at 7267.Google Scholar
O'Doherty, K. C. et al., “From Consent to Institutions: Designing Adaptive Governance for Genomic Biobanks,” Social Science & Medicine 73, no. 3 (2011): 367–374; B. Koenig, “Have We Asked Too Much of Consent?” Hastings Center Report 44, no. 4 (2014): 33-34.CrossRefGoogle Scholar
See O'Doherty et al., supra note 38.Google Scholar
Simon, C. M., Newbery, E., and Heureux, J. L., “Protecting Participants, Promoting Progress: Public Perspectives on Community Advisory Boards (CABs) in Biobanking,” Journal of Empirical Research on Human Research Ethics 6, no. 3 (2011): 19–30; R. P. Strauss et al., “The Role of Community Advisory Boards: Involving Communities in the Informed Consent Process,” American Journal of Public Health 91, no. 12 (2001): 1938-1943.CrossRefGoogle Scholar
Fullerton, S. M. et al., “Meeting the Governance Challenges of Next-Generation Biorepository Research,” Science Translational Medicine 2, no. 15 (2010): 15cm13.CrossRefGoogle Scholar
O'Doherty, K. C., Hawkins, A. K., and Burgess, M. M., “Involving Citizens in the Ethics of Biobank Research: Informing Institutional Policy through Structured Public Deliberation,” Social Science & Medicine 75, no. 9 (2012): 1604–1611; J. E. Olson et al., “The Mayo Clinic Biobank: A Building Block for Individualized Medicine,” Mayo Clinic Proceedings 88, no. 9 (2013): 952-962; D. M. Secko, M. Burgess, and K. O'Doherty, “Perspectives on Engaging the Public in the Ethics of Emerging Biotechnologies: From Salmon to Biobanks to Neuroethics,” Accountable Research 15, no. 4 (2008): 283-302.CrossRefGoogle Scholar
Henderson, G. E. et al., “Stewardship Practices of U.S. Bio-banks,” Science Translational Medicine 5 (2013): 215cm7.CrossRefGoogle Scholar
Overby, C. L. et al., “Prioritizing Approaches to Engage Community Members and Build Trust in Biobanks: A Survey of Attitudes and Opinions of Adults within Outpatient Practices at the University of Maryland,” Journal of Personlized Medicine 5, no. 3 (2015): 264–279.CrossRefGoogle Scholar
See O’Doherty et al., supra note 38.Google Scholar
See Simon et al., supra note 40.Google Scholar