1932

Abstract

Participatory approaches to genomic research manifest along a continuum from bottom-up citizen-science initiatives designed to liberate scientific inquiry from the constraints of traditional research institutional contexts and professional practices to top-down investigator-initiated studies designed to expose the public to scientific research processes and build its support and enthusiasm for genomic research. With foundations as varied as open science, crowdsourcing, patient advocacy, social media, the digitization of health, and the neoliberalization of academic research, a range of ethical frameworks inform the modes of participatory genomic research. Using illustrations from citizen genomic science, patient advocacy, and investigator-led and government-initiated genomic research efforts, we argue that as participatory genomic research pushes the conventional research boundaries toward a more democratizing ethos, it challenges scientific practices and the ethical conduct of genomic research both within and outside of the traditional sites of biomedical innovation.

Loading

Article metrics loading...

/content/journals/10.1146/annurev-genom-091416-035230
2017-08-31
2024-04-15
Loading full text...

Full text loading...

/deliver/fulltext/genom/18/1/annurev-genom-091416-035230.html?itemId=/content/journals/10.1146/annurev-genom-091416-035230&mimeType=html&fmt=ahah

Literature Cited

  1. 1. AltaVoice Patient Insights Netw. 2017. About GenomeConnect https://www.genomeconnect.org/about-connect/genomeconnect.html
  2. Anderson NB, Caleb C, Hartzler A, Edwards K. 2.  2012. Participant-centric initiatives: tools to facilitate engagement in research. Appl. Transl. Genom. 1:25–29 [Google Scholar]
  3. Angrist M. 3.  2009. Eyes wide open: the Personal Genome Project, citizen science and veracity in informed consent. Pers. Med. 6:691–99 [Google Scholar]
  4. Batalden M, Batalden P, Margolis P, Seid M, Armstrong G. 4.  et al. 2016. Coproduction of healthcare service. BMJ Qual. Saf. 25:509–17 [Google Scholar]
  5. Bennett G, Gilman N, Stavrianakis A, Rabinow P. 5.  2009. From synthetic biology to biohacking: Are we prepared?. Nat. Biotechnol. 27:1109–11 [Google Scholar]
  6. Chong J, Yu J, Lorentzen P, Park K, Jamal S. 6.  et al. 2016. Gene discovery for Mendelian conditions via social networking: De novo variants in KDM1A cause developmental delay and distinctive facial features. Genet. Med. 18:788–95 [Google Scholar]
  7. Collins FS. 7.  2015. Building the Precision Medicine Initiative National Research Cohort—the time is now. NIH Director Sept. 15. https://www.nih.gov/about-nih/who-we-are/nih-director/statements/building-precision-medicine-initiative-national-research-cohort-time-now
  8. Collins PH. 8.  2017. Taking a stand: anti-black racism and coalitional politics Presented at Cincinnati Proj. Annu. Symp ., , 3rd., Cincinnati, OH: Feb. 17
  9. Delfanti A. 9.  2011. Hacking genomes. The ethics of open and rebel biology. Int. Rev. Inf. Ethics 15:52–57 [Google Scholar]
  10. Delfanti A. 10.  2012. Tweaking genes in your garage: biohacking between activism and entrepreneurship. Activist Media and Biopolitics: Critical Media Interventions in the Age of Biopower W Sützl, T Hug 163–77 Innsbruck, Austria: Innsbruck Univ. Press [Google Scholar]
  11. 11. DIYbio. 2017. Homepage. https://diybio.org
  12. Downing A. 12.  2016. No data about me, without me Presented at Festiv. Genom. Boston, MA: June 28–29
  13. Eriksson N, Macpherson J, Tung J, Hon L, Naughton B. 13.  et al. 2010. Web-based, participant-driven studies yield novel genetic associations for common traits. PLOS Genet 6:e1000993 [Google Scholar]
  14. Fishman JR, McGowan ML. 14.  2014. Will personal genomic information transform one's self?. Genetics as Social Practice: Transdisciplinary Views on Science and Culture B Prainsack, S Schicktanz, G Werner-Felmeyer 29–42 Farnham, UK: Ashgate [Google Scholar]
  15. Foucault M, Martin LH, Gutman H, Hutton PH. 15.  1988. Technologies of the Self: A Seminar with Michel Foucault Amherst: Univ. Mass. Press
  16. Giroux HA. 16.  2008–2009. Academic unfreedom in America: rethinking the university as a democratic public sphere. Works Days 26/27:45–71 [Google Scholar]
  17. Harley L. 17.  2016. First “DIY” human genome offers a new approach to conventional genomics. Front Line Genomics Dec. 14. http://www.frontlinegenomics.com/news/8993/first-diy-human-genome
  18. Harley L. 18.  2016. Truly personal genomics – Clive Brown, Oxford Nanopore. Front Line Genomics Dec. 14. http://www.frontlinegenomics.com/opinion/8995/clive-brown-personal-genomics
  19. Irwin A. 19.  1995. Citizen Science: A Study of People, Expertise and Sustainable Development New York: Routledge
  20. Juengst ET, McGowan ML, Fishman JR, Settersten RA Jr.. 20.  2016. From “personalized” to “precision” medicine: the ethical and social implications of rhetorical reform in genomic medicine. Hastings Cent. Rep. 46:21–33 [Google Scholar]
  21. Kelty C. 21.  2010. Outlaw, hackers, Victorian amateurs: diagnosing public participation in the life sciences today. J. Sci. Commun. 9:C03 [Google Scholar]
  22. Kelty C, Panofsky A. 22.  2014. Disentangling public participation in science and biomedicine. Genome Med 6:8 [Google Scholar]
  23. Kerath S, Klein G, Kern M, Shapira I, Witthuhn J. 23.  et al. 2013. Beliefs and attitudes towards participating in genetic research—a population based cross-sectional study. BMC Public Health 13:114 [Google Scholar]
  24. Khatib F, Cooper S, Tyka M, Xu K, Makedon I. 24.  et al. 2011. Algorithm discovery by protein folding game players. PNAS 108:18949–53 [Google Scholar]
  25. Kirkpatrick B, Riggs E, Azzariti D, Miller V, Ledbetter D. 25.  et al. 2015. GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. Hum. Mutat. 36:974–78 [Google Scholar]
  26. Koay PP, Sharp RR. 26.  2013. The role of patient advocacy organizations in shaping genomic science. Annu. Rev. Genom. Hum. Genet. 14:579–95 [Google Scholar]
  27. Lambertson K, Damiani S, Might M, Shelton R, Terry SF. 27.  2015. Participant-driven matchmaking in the genomic era. Hum. Mutat. 36:965–73 [Google Scholar]
  28. Maher B. 28.  2013. Father's genetic quest pays off. Nature 498:418–19 [Google Scholar]
  29. McGowan ML, Choudhury S, Juengst ET, Lambrix M, Settersten RA Jr., Fishman JR. 29.  2017. “Let's pull these technologies out of the ivory tower”: the politics, ethos, and ironies of participant-driven genomic research. BioSocieties In press. https://doi.org/10.1057/s41292-017-0043-6 [Crossref]
  30. McGowan ML, Fishman JR, Lambrix M. 30.  2010. Personal genomics and individual identities: motivations and moral imperatives of early users. New Genet. Soc. 29:261–90 [Google Scholar]
  31. Meagher KM, McGowan ML, Settersten RA Jr., Fishman JR, Juengst ET. 31.  2017. Precisely where are we going? Charting the new terrain of precision prevention. Annu. Rev. Genom. Hum. Genet. 18:369–87 [Google Scholar]
  32. Might M. 32.  2010. Hunting down my son's killer http://matt.might.net/articles/my-sons-killer
  33. Might M, Wilsey M. 33.  2014. The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated. Genet. Med. 16:736–37 [Google Scholar]
  34. Mirowski P. 34.  2017. What is “open science” supposed to fix? Presented at Milieux Inst. Arts Cult. Technol. Condordia Univ. Montreal: Feb. 16
  35. Neidich A, Joseph J, Ober C, Ross L. 35.  2008. Empirical data about women's attitudes towards a hypothetical pediatric biobank. Am. J. Med. Genet. A 146A:297–304 [Google Scholar]
  36. Porteri C, Pasqualetti P, Togni E, Parker M. 36.  2014. Public's attitudes on participation in a biobank for research: an Italian survey. BMC Med. Ethics 15:81 [Google Scholar]
  37. Prainsack B. 37.  2013. Citizen science in health domain. Encyclopedia of Creativity, Invention, Innovation and Entrepreneurship EG Carayannis 206–11 New York: Springer [Google Scholar]
  38. Rabeharisoa V. 38.  2003. The struggle against neuromuscular diseases in France and the emergence of the “partnership model” of patient organisation. Soc. Sci. Med. 57:2127–36 [Google Scholar]
  39. Rabeharisoa V, Callon M, Filiped A, Nunesc J, Patersona F, Vergauda F. 39.  2014. From “politics of numbers” to “politics of singularisation”: patients’ activism and engagement in research on rare diseases in France and Portugal. BioSocieties 9:194–217 [Google Scholar]
  40. Rajan K. 40.  2006. Biocapital: The Constitution of Postgenomic Life Durham, NC: Duke Univ. Press
  41. Rienhoff HY. 41.  2016. Reflections on my daughter's DNA. Appl. Transl. Genom. 8:45–48 [Google Scholar]
  42. Sankar PL, Parker LS. 42.  2017. The Precision Medicine Initiative's All of Us Research Program: an agenda for research on its ethical, legal, and social issues. Genet. Med. 19:743–50 [Google Scholar]
  43. Seid M, Margolis P, Opipari-Arrigan L. 43.  2014. Engagement, peer production, and the learning healthcare system. JAMA Pediatr 168:201–2 [Google Scholar]
  44. 44. Sequencing.com. 2017. Helping children, together https://sequencing.com/knowledge-center/helping-children-together
  45. Terry SF. 45.  2017. The study is open: Participants are now recruiting investigators. Sci. Transl. Med. 9:eaaf1001 [Google Scholar]
  46. Vayena E, Tasioulas J. 46.  2013. Adapting standards: ethical oversight of participant-led health research. PLOS Med 10:e1001402 [Google Scholar]
  47. Vayena E, Tasioulas J. 47.  2013. The ethics of participant-led biomedical research. Nat. Biotechnol. 31:786–87 [Google Scholar]
  48. Watson L. 48.  2016. Making it real – the impact of consumer co-production. Consumers Health Forum of Australia Nov. 10. https://chf.org.au/blog/making-it-real-impact-consumer-co-production
  49. Woolley J, McGowan ML, Teare H, Coathup V, Fishman JR. 49.  et al. 2016. Citizen science or scientific citizenship? Disentangling the uses of public engagement rhetoric in national research initiatives. BMC Med. Ethics 17:33 [Google Scholar]
/content/journals/10.1146/annurev-genom-091416-035230
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