1932

Abstract

The collection and use of human genetic data raise important ethical questions about how to balance individual autonomy and privacy with the potential for public good. The proliferation of local, national, and international efforts to collect genetic data and create linkages to support large-scale initiatives in precision medicine and the learning health system creates new demands for broad data sharing that involve managing competing interests and careful consideration of what constitutes appropriate ethical trade-offs. This review describes these emerging ethical issues with a focus on approaches to consent and issues related to justice in the shifting genomic research ecosystem.

Loading

Article metrics loading...

/content/journals/10.1146/annurev-biodatasci-030221-125715
2021-07-20
2024-06-22
Loading full text...

Full text loading...

/deliver/fulltext/biodatasci/4/1/annurev-biodatasci-030221-125715.html?itemId=/content/journals/10.1146/annurev-biodatasci-030221-125715&mimeType=html&fmt=ahah

Literature Cited

  1. 1. 
    Toonders J. 2014. Data is the new oil of the digital economy. WIRED July 23. https://www.wired.com/insights/2014/07/data-new-oil-digital-economy/
    [Google Scholar]
  2. 2. 
    Ruckenstein M, Schüll ND. 2017. The datafication of health. Annu. Rev. Anthropol. 46:261–78
    [Google Scholar]
  3. 3. 
    Kuch D, Kearnes M, Gulson K. 2020. The promise of precision: datafication in medicine, agriculture and education. Policy Stud 41:5527–46
    [Google Scholar]
  4. 4. 
    Popejoy AB, Fullerton SM. 2016. Genomics is failing on diversity. Nat. News 538:7624161–68
    [Google Scholar]
  5. 5. 
    Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ. 2019. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51:4584–91
    [Google Scholar]
  6. 6. 
    Bustamante CD, Francisco M, Burchard EG. 2011. Genomics for the world. Nature 475:7355163–65
    [Google Scholar]
  7. 7. 
    Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT et al. 2018. The Clinical Sequencing Evidence-Generating Research Consortium: integrating genomic sequencing in diverse and medically underserved populations. Am. J. Hum. Genet. 103:3319–27
    [Google Scholar]
  8. 8. 
    Sankar PL, Parker LS. 2017. The Precision Medicine Initiative's All of Us Research Program: an agenda for research on its ethical, legal, and social issues. Genet. Med. 19:7743–50
    [Google Scholar]
  9. 9. 
    Lucero JE, Roubideaux Y. 2020. Holding space for All of Us. AMA J. Ethics 22:10882–87
    [Google Scholar]
  10. 10. 
    Van Dijck J. 2014. Datafication, dataism and dataveillance: big data between scientific paradigm and ideology. Surveill. Soc. 12:2197–208
    [Google Scholar]
  11. 11. 
    Sadowski J. 2019. When data is capital: datafication, accumulation, and extraction. Big Data Soc 6:1 https://doi.org/10.1177/2053951718820549
    [Crossref] [Google Scholar]
  12. 12. 
    Fox RC, Fox RC, Swazey JP. 2008. Observing Bioethics Oxford: Oxford Univ. Press
    [Google Scholar]
  13. 13. 
    DeVries R, Subedi J. 1998. Bioethics and Society: Constructing the Ethical Enterprise Upper Saddle River, NJ: Prentice Hall
    [Google Scholar]
  14. 14. 
    Cynkar RJ. 1981. Buck v. Bell: “felt necessities” v. fundamental values?. Columbia Law Rev 81:71418–61
    [Google Scholar]
  15. 15. 
    Lombardo P. 2017. Eugenics laws restricting immigration. Eugenics Archive http://www.eugenicsarchive.org/html/eugenics/essay9text.html
    [Google Scholar]
  16. 16. 
    Lombardo PA. 2008. Disability, eugenics, and the culture wars. St. Louis J. Health Law Policy 2:57
    [Google Scholar]
  17. 17. 
    Allen GE. 1986. The eugenics record office at Cold Spring Harbor, 1910–1940: an essay in institutional history. Osiris 2:225–64
    [Google Scholar]
  18. 18. 
    Ludmerer KM. 1972. Genetics, eugenics, and the Immigration Restriction Act of 1924. Bull. Hist. Med. 46:159–81
    [Google Scholar]
  19. 19. 
    Leonard TT. 2005. Who shall select the fittest? Eugenics, economics and the origins of American reform Unpubl. Manuscr., Dep. Econ., Princeton Univ. Princeton, NJ:
    [Google Scholar]
  20. 20. 
    Heller J. 1972. Syphilis victims in U.S. study went untreated for 40 years. New York Times July 26
    [Google Scholar]
  21. 21. 
    Reverby SM. 2012. Tuskegee's Truths: Rethinking the Tuskegee Syphilis Study Chapel Hill: Univ. N.C. Press
    [Google Scholar]
  22. 22. 
    Jones JH 2008. The Tuskegee syphilis experiment. The Oxford Textbook of Clinical Research Ethics EJ Emanuel, C Grady, RA Crouch, RK Lie, FG Miller 86–96 Oxford: Oxford Univ. Press
    [Google Scholar]
  23. 23. 
    Reverby SM 2009. Examining Tuskegee: The Infamous Syphilis Study and Its Legacy Chapel Hill: Univ. N.C. Press
    [Google Scholar]
  24. 24. 
    Nuernberg Mil. Trib 1949. Permissible medical experiments. Trials of War Criminals Before the Nuernberg Military Tribunals Under Council Law 10, Vol. 2181–82 Washington, DC: US Govt Print. Off.
    [Google Scholar]
  25. 25. 
    WMA (World Med. Assoc.) 1964. Declaration of Helsinki: recommendations guiding doctors in clinical research Ethical Declar., WMA Helsinki, Finland:
    [Google Scholar]
  26. 26. 
    Rothman DJ, Rothman SM. 2017. The Willowbrook Wars: Bringing the Mentally Disabled into the Community New York: Routledge
    [Google Scholar]
  27. 27. 
    Brandt AM. 1978. Racism and research: the case of the Tuskegee Syphilis Study. Hastings Cent. Rep. 8:621–29
    [Google Scholar]
  28. 28. 
    Natl. Comm. Prot. Hum. Subj. Biomed. Behav. Res 1978. The Belmont Report: ethical principles and guidelines for the protection of human subjects of research Dep. Health Edu. Welf. Pub 78–0014 Govt. Print. Off. Washington, DC:
    [Google Scholar]
  29. 29. 
    Childress JF, Beauchamp TL. 2001. Principles of Biomedical Ethics New York: Oxford Univ. Press
    [Google Scholar]
  30. 30. 
    Singer P. 2011. Practical Ethics Cambridge, UK: Cambridge Univ. Press
    [Google Scholar]
  31. 31. 
    Polonetsky J, Tene O, Jerome J 2015. Beyond the Common Rule: ethical structures for data research in non-academic settings. Colo. Tech. Law J. 13:333–68
    [Google Scholar]
  32. 32. 
    Emanuel EJ, Wendler D, Grady C. 2000. What makes clinical research ethical?. JAMA 283:202701–11
    [Google Scholar]
  33. 33. 
    Grady C. 2010. Do IRBs protect human research participants?. JAMA 304:101122–23
    [Google Scholar]
  34. 34. 
    Skloot R. 2010. The Immortal Life of Henrietta Lacks New York: Broadway Paperbacks
    [Google Scholar]
  35. 35. 
    Hudson KL, Collins FS. 2013. Family matters. Nature 500:7461141–42
    [Google Scholar]
  36. 36. 
    Sweeney L. 2000. Uniqueness of simple demographics in the US population. Tech. Rep. LIDAP-WP4 Dep. Comput. Sci., Carnegie Mellon Univ.
    [Google Scholar]
  37. 37. 
    Sweeney L, Abu A, Winn J. 2013. Identifying participants in the personal genome project by name (a re-identification experiment). arXiv:1304.7605 [cs.CY]
  38. 38. 
    McGuire AL, Beskow LM. 2010. Informed consent in genomics and genetic research. Annu. Rev. Genom. Hum. Genet. 11:361–81
    [Google Scholar]
  39. 39. 
    Marshall EA, Oates JC, Shoaibi A, Obeid JS, Habrat ML et al. 2017. A population-based approach for implementing change from opt-out to opt-in research permissions. PLOS ONE 12:4e0168223
    [Google Scholar]
  40. 40. 
    Grady C, Eckstein L, Berkman B, Brock D, Cook-Deegan R et al. 2015. Broad consent for research with biological samples: workshop conclusions. Am. J. Bioeth. 15:934–42
    [Google Scholar]
  41. 41. 
    Garrison NA, Sathe NA, Matheny Antommaria AH, Holm IA, Sanderson SC et al. 2016. A systematic literature review of individuals’ perspectives on broad consent and data sharing in the United States. Genet. Med. 18:7663–71
    [Google Scholar]
  42. 42. 
    Sheehan M. 2011. Broad consent is informed consent. BMJ 343:d6900
    [Google Scholar]
  43. 43. 
    Steinsbekk KS, Myskja BK, Solberg B. 2013. Broad consent versus dynamic consent in biobank research: Is passive participation an ethical problem?. Eur. J. Hum. Genet. 21:9897–902
    [Google Scholar]
  44. 44. 
    Master Z, Campo-Engelstein L, Caulfield T. 2015. Scientists’ perspectives on consent in the context of biobanking research. Eur. J. Hum. Genet. 23:5569–74
    [Google Scholar]
  45. 45. 
    Wolf LE, Lo B. 2004. Untapped potential: IRB guidance for the ethical research use of stored biological materials. IRB Ethics Hum. Res. 26:41–8
    [Google Scholar]
  46. 46. 
    Budin-Ljøsne I, Teare HJA, Kaye J, Beck S, Bentzen HB et al. 2017. Dynamic consent: a potential solution to some of the challenges of modern biomedical research. BMC Med. Ethics 18:4
    [Google Scholar]
  47. 47. 
    Doerr M, Suver C, Wilbanks J. 2016. Developing a transparent, participant-navigated electronic informed consent for mobile-mediated research. SSRN 2769129. https://dx.doi.org/10.2139/ssrn.2769129
    [Crossref]
  48. 48. 
    Doerr M, Grayson S, Moore S, Suver C, Wilbanks J et al. 2019. Implementing a universal informed consent process for the All of Us Research Program. Pac. Sympos. Biocomput. 2019:427–38
    [Google Scholar]
  49. 49. 
    Kraft SA, Constantine M, Magnus D, Porter KM, Lee SS-J et al. 2017. A randomized study of multimedia informational aids for research on medical practices: implications for informed consent. Clin. Trials 14:194–102
    [Google Scholar]
  50. 50. 
    Wilbanks J. 2018. Design issues in e-consent. J. Law Med. Ethics 46:1110–18
    [Google Scholar]
  51. 51. 
    Doerr M, Moore S, Barone V, Sutherland S, Bot BM et al. 2020. Assessment of the All of Us research program's informed consent process. AJOB Empiric. Bioeth. https://doi.org/10.1080/23294515.2020.1847214
    [Crossref] [Google Scholar]
  52. 52. 
    Cho MK, Varsava N, Kraft SA, Ashwal G, Gillespie K et al. 2018. Metaphors matter: from biobank to a library of medical information. Genet. Med. 20:8802–5
    [Google Scholar]
  53. 53. 
    Roberts JL. 2010. Preempting discrimination: lessons from the Genetic Information Nondiscrimination Act. Vand. Law Rev. 63:439–90
    [Google Scholar]
  54. 54. 
    Wailoo K. 2017. Sickle cell disease—a history of progress and peril. N. Engl. J. Med. 376:9805–7
    [Google Scholar]
  55. 55. 
    Hodge FS. 2012. No meaningful apology for American Indian unethical research abuses. Ethics Behav 22:6431–44
    [Google Scholar]
  56. 56. 
    Van Assche K, Gutwirth S, Sterckx S. 2013. Protecting dignitary interests of biobank research participants: lessons from Havasupai Tribe v Arizona Board of Regents. Law Innov. Technol. 5:154–84
    [Google Scholar]
  57. 57. 
    Mello MM, Wolf LE. 2010. The Havasupai Indian tribe case—lessons for research involving stored biologic samples. N. Engl. J. Med. 363:3204–7
    [Google Scholar]
  58. 58. 
    Garrison NA. 2013. Genomic justice for Native Americans: impact of the Havasupai case on genetic research. Sci. Technol. Hum. Val. 38:2201–23
    [Google Scholar]
  59. 59. 
    Lavoie J. 1989. Ownership of human tissue: life after Moore v. Regents of the University of California. Va. Law Rev. 75:71363–96
    [Google Scholar]
  60. 60. 
    Harmon A. 2010. Indian tribe wins fight to limit research of its DNA. New York Times April 21. https://www.nytimes.com/2010/04/22/us/22dna.html
    [Google Scholar]
  61. 61. 
    Fox R, Swazey J. 2008. Thinking socially and culturally in bioethics. Observing Bioethics153–98 Oxford: Oxford Univ. Press
    [Google Scholar]
  62. 62. 
    Fox RC, Swazey JP. 1984. Medical morality is not bioethics—medical ethics in China and the United States. Perspect. Biol. Med. 27:3336–60
    [Google Scholar]
  63. 63. 
    Wolpe PR, DeVries R, Subedi J. 1998. Bioethics and Society: Constructing the Ethical Enterprise Upper Saddle River, NJ: Prentice Hall
    [Google Scholar]
  64. 64. 
    Callaway E. 2013. HeLa publication brews bioethical storm. Nature March 27. https://doi.org/10.1038%2Fnature.2013.12689
    [Crossref] [Google Scholar]
  65. 65. 
    Landry JJM, Pyl PT, Rausch T, Zichner T, Tekkedil MM et al. 2013. The genomic and transcriptomic landscape of a HeLa cell line. G3 3:81213–24
    [Google Scholar]
  66. 66. 
    Adey A, Burton JN, Kitzman JO, Hiatt JB, Lewis AP et al. 2013. The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line. Nature 500:7461207–11
    [Google Scholar]
  67. 67. 
    Paltoo DN, Rodriguez LL, Feolo M, Gillanders E, Ramos EM et al. 2014. Data use under the NIH GWAS data sharing policy and future directions. Nat. Genet. 46:9934–38
    [Google Scholar]
  68. 68. 
    Greely HT, Cho MK. 2013. The Henrietta Lacks legacy grows. EMBO Rep 14:10849–49
    [Google Scholar]
  69. 69. 
    Weiss KM, Cavalli-Sforza LL, Dunston GM, Feldman M, Greely HT et al. 1997. Proposed model ethical protocol for collecting DNA samples. Houston Law Rev 33:51431–74
    [Google Scholar]
  70. 70. 
    Greely HT. 2001. Informed consent and other ethical issues in human population genetics. Annu. Rev. Genet. 35:785–800
    [Google Scholar]
  71. 71. 
    Reardon J. 2009. Race to the Finish: Identity and Governance in an Age of Genomics Princeton, NJ: Princeton Univ. Press
    [Google Scholar]
  72. 72. 
    Fox K. 2020. The illusion of inclusion—the “All of Us” research program and indigenous peoples’ DNA. N. Engl. J. Med. 383:5411–13
    [Google Scholar]
  73. 73. 
    Claw KG, Anderson MZ, Begay RL, Tsosie KS, Fox K et al. 2018. A framework for enhancing ethical genomic research with Indigenous communities. Nat. Commun. 9:2957
    [Google Scholar]
  74. 74. 
    Kowal EE. 2015. Genetics and indigenous communities: ethical issues. Int. Encycl. Soc. Behav. Sci. 9:962–68
    [Google Scholar]
  75. 75. 
    Nanibaa’ AG, Hudson M, Ballantyne LL, Garba I, Martinez A et al. 2019. Genomic research through an indigenous lens: understanding the expectations. Annu. Rev. Genom. Hum. Genet. 20:495–517
    [Google Scholar]
  76. 76. 
    Tsosie R. 2012. Indigenous peoples and epistemic injustice: science, ethics, and human rights. Wash. Law Rev. 87:1133–201
    [Google Scholar]
  77. 77. 
    Weijer C, Goldsand G, Emanuel EJ. 1999. Protecting communities in research: current guidelines and limits of extrapolation. Nat. Genet. 23:3275–80
    [Google Scholar]
  78. 78. 
    Weijer C, Emanuel EJ. 2000. Protecting communities in biomedical research. Science 289:54821142144
    [Google Scholar]
  79. 79. 
    Nissenbaum H. 1998. Protecting privacy in an information age: the problem of privacy in public. Law Philos 17:55996
    [Google Scholar]
  80. 80. 
    Perrin A. 2017. 10 facts about smartphones as the iPhone turns 10. Factank June 28. https://www.pewresearch.org/fact-tank/2017/06/28/10-facts-about-smartphones/
    [Google Scholar]
  81. 81. 
    Nicholls SG, Langan SM, Benchimol EI 2016. Reporting and transparency in big data: the nexus of ethics and methodology. The Ethics of Biomedical Big Data BD Mittelstadt, L Floridi 339–65 Cham, Switz: Springer
    [Google Scholar]
  82. 82. 
    Natl. Acad. Eng., Inst. Med 2011. Engineering a Learning Healthcare System: A Look at the Future: Workshop Summary Washington, DC: Natl. Acad. Press
    [Google Scholar]
  83. 83. 
    McGinnis JM, Olsen L. 2010. Redesigning the Clinical Effectiveness Research Paradigm: Innovation and Practice-Based Approaches: Workshop Summary Washington, DC: Natl. Acad. Press
    [Google Scholar]
  84. 84. 
    Khoury MJ, Iademarco MF, Riley WT. 2016. Precision public health for the era of precision medicine. Am. J. Prev. Med. 50:3398–401
    [Google Scholar]
  85. 85. 
    Larson EB. 2013. Building trust in the power of “big data” research to serve the public good. JAMA 309:232443–44
    [Google Scholar]
  86. 86. 
    Smith M, Halvorson G, Kaplan G. 2012. What's needed is a health care system that learns: recommendations from an IOM report. JAMA 308:161637–38
    [Google Scholar]
  87. 87. 
    Faden RR, Kass NE, Goodman SN, Pronovost P, Tunis S, Beauchamp TL. 2013. An ethics framework for a learning health care system: a departure from traditional research ethics and clinical ethics. Hastings Center Rep 43:S16–27
    [Google Scholar]
  88. 88. 
    Lee SS, Cho MK, Kraft SA, Varsava N, Gillespie K et al. 2019.. “ I don't want to be Henrietta Lacks”: diverse patient perspectives on donating biospecimens for precision medicine research. Genet. Med. 21:107–13
    [Google Scholar]
  89. 89. 
    Ganna A, Verweij KJH, Nivard MG, Maier R, Wedow R et al. 2019. Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior. Science 365:6456eaat7693
    [Google Scholar]
  90. 90. 
    Holm S, Ploug T. 2019. Genome studies reveal flaws in broad consent. Science 366:64721460–61
    [Google Scholar]
  91. 91. 
    Panofsky A, Donovan J. 2019. Genetic ancestry testing among white nationalists: from identity repair to citizen science. Soc. Stud. Sci. 49:5653–81
    [Google Scholar]
  92. 92. 
    Harmon A. 2018. Geneticists criticize use of science by white nationalists to justify ‘racial purity. .’ New York Times Oct. 19
    [Google Scholar]
  93. 93. 
    ASHG (Am. Soc. Hum. Genet.) 2020. American Society of Human Genetics statement regarding concepts of “good genes” and human genetics Press Release, ASHG Sept. 24 Rockville, MD: https://www.ashg.org/publications-news/ashg-news/statement-regarding-good-genes-human-genetics/
    [Google Scholar]
  94. 94. 
    Ienca M, Vayena E. 2020. On the responsible use of digital data to tackle the COVID-19 pandemic. Nat. Med. 26:4463–64
    [Google Scholar]
  95. 95. 
    Wynants L, Van Calster B, Collins GS, Riley RD, Heinze G et al. 2020. Prediction models for diagnosis and prognosis of covid-19: systematic review and critical appraisal. BMJ 369:m1328
    [Google Scholar]
  96. 96. 
    Lee SS-J. 2021. Response to open peer commentaries: distinguishing the “gift” from “donation” as a path toward reciprocity and relational ethics. Am. J. Bioeth. 21:4W1–3
    [Google Scholar]
  97. 97. 
    Lee SS-J. 2020. Obligations of the “gift”: reciprocity and responsibility in precision medicine. Am. J. Bioeth. 21:457–66
    [Google Scholar]
  98. 98. 
    Benjamin R. 2016. Informed refusal: toward a justice-based bioethics. Sci. Technol. Hum. Val. 41:6967–90
    [Google Scholar]
  99. 99. 
    Kraft SA, Cho MK, Gillespie K, Hallie M, Varsava N et al. 2018. Beyond consent: building trusting relationships with diverse populations in precision medicine research. Am. J. Bioeth. 18:43–20
    [Google Scholar]
  100. 100. 
    Lee SS-J, Fullerton SM, Saperstein A, Shim JK. 2019. Ethics of inclusion: cultivate trust in precision medicine. Science 364:6444941–42
    [Google Scholar]
/content/journals/10.1146/annurev-biodatasci-030221-125715
Loading
/content/journals/10.1146/annurev-biodatasci-030221-125715
Loading

Data & Media loading...

  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error