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Clinical Genetic Research 3: Genetics ELSI (Ethical, Legal, and Social Issues) Research

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Clinical Epidemiology

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1281))

Abstract

ELSI (Ethical, Legal, and Social Issues) is a widely used acronym in the bioethics literature that encompasses a broad range of research areas involved in examining the various impacts of science and technology on society. In Canada, GE3LS (Genetics, Ethical, Economic, Environmental, Legal, Social issues) is the term used to describe ELSI studies. It is intentionally more expansive in that GE3LS explicitly brings economic and environmental issues under its purview. ELSI/GE3LS research has become increasingly important in recent years as there has been a greater emphasis on “translational research” that moves genomics from the bench to the clinic. The purpose of this chapter is to outline a range of ELSI-related work that might be conducted as part of a large scale genetics or genomics research project, and to provide some practical insights on how a scientific research team might incorporate a strong and effective ELSI program within its broader research mandate. We begin by describing the historical context of ELSI research and the development of GE3LS research in the Canadian context. We then illustrate how some ELSI research might unfold by outlining a variety of research questions and the various methodologies that might be employed in addressing them in an area of ELSI research that is encompassed under the term “public engagement.” We conclude with some practical pointers about how to build an effective ELSI/GE3LS team and focus within a broader scientific research program.

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References

  1. Rubio D, Schoenbaum E, Lee L et al (2010) Defining translational research: implications for training. Acad Med 85:470–475

    Article  PubMed Central  PubMed  Google Scholar 

  2. Green ED, Guyer MS, National Human Genome Research Institute (2011) Charting a course for genomic medicine from base pairs to bedside. Nature. doi:10.1038/nature09764

    Google Scholar 

  3. Collins FS, Green ED, Gutmacher AE et al (2003) A vision for the future of genomics research. Nature 422:1–13

    Google Scholar 

  4. McKusick VA (1989) HUGO: history, purposes and membership. http://hugo-international.org/abt_history.php. Accessed 15 Apr 2014

  5. HUGO ELSI Committee (1995) Statement on the principled conduct of genetics research. http://www.hugo-international.org/img/statment%20on%20the%20principled%20conduct%20of%20genetics%20research.pdf. Accessed 17 March 2014

  6. Bombard Y, Veenstra G, Friedman JM et al (2009) Perceptions of genetic discrimination among people at risk for Huntington’s disease: a cross sectional survey. BMJ 338:b2175

    Article  PubMed Central  PubMed  Google Scholar 

  7. United States Congress (2008) Genetic Information Nondiscrimination Act of 2008. https://www.govtrack.us/congress/bills/110/hr493/text. Accessed 17 Apr 2014

  8. Pullman D, Lemmens T (2010) Keeping the GINA in the bottle: assessing the current need for genetic non-discrimination legislation in Canada. Open Med 4(2):95–97

    Google Scholar 

  9. McCloskey D, McDonald M, Cook J et al (2011) Community engagement: definitions and organizing concepts from the literature. http://www.atsdr.cdc.gov/communityengagement/pdf/PCE_Report_Chapter_1_SHEF.pdf. Accessed 10 March 2014

  10. Daudelin G, Lehoux P, Abelson J et al (2010) The integration of citizens into a science/policy network in genetics: governance arrangements and asymmetry in expertise. Health Expect 14:261–271

    Article  PubMed  Google Scholar 

  11. Attree P, French B, Povall S, Whitehead M, Popay J (2011) The experience of community engagement for individuals: a rapid review of evidence. Health Soc Care Community 19(3):250–260

    Article  PubMed  Google Scholar 

  12. Haldeman K, Cadigan R, Davis A et al (2014) Community engagement in US biobanking: multiplicity of meaning and method. Public Health Genomics. doi:10.1159/000357958

    PubMed  Google Scholar 

  13. Burgess M, O’Doherty K, Secko D (2008) Biobanking in British Columbia: discussions of the future of personalized medicine through deliberative public engagement. Per Med 5(3):285–296

    Article  Google Scholar 

  14. Henderson G, Juengst E, King NM, Kuczynski K, Michie M (2012) What research ethics should learn from genomics and society research: lessons from the ELSI Congress of 2011. J Law Med Ethics 40(4):1008–1024

    PubMed Central  PubMed  Google Scholar 

  15. Lemke A, Wolf W, Herbert-Beirne J, Smith M (2010) Public and biobank participant attitudes toward genetic research participation and data sharing. Public Health Genomics 13:368–377

    PubMed Central  CAS  PubMed  Google Scholar 

  16. Burke W, Trinidad S, Clayton E (2013) Seeking genomic knowledge: the case for clinical restraint. Hastings Law J 64(6):1650–1664

    PubMed Central  PubMed  Google Scholar 

  17. Ginsburg G, Willard H (2009) Genomic and personalized medicine: foundations and applications. Trans Res 154(6):277–287

    Article  Google Scholar 

  18. Manolio T, Chisholm R, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, Mrazek D, Murray MF, O’Donnell PH, Rader DJ, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS (2012) Implementing genomic medicine in the clinic: the future is here. Genet Med 15(4):268–269

    Google Scholar 

  19. Borry P, Cornel M (2010) Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market. J Community Genet 1:101–106

    Article  PubMed Central  PubMed  Google Scholar 

  20. McBride C, Wade C, Kaphingst K (2010) Consumers’ views of direct-to-consumer genetic information. Annu Rev Genomics Hum Genet 11:427–446

    Article  CAS  PubMed  Google Scholar 

  21. Tarini B, Goldenberg J (2012) Ethical issues with newborn screening in the genomics era. Annu Rev Genomics Hum Genet 13:381–393

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  22. Rowe G, Frewer L (2005) A typology of public engagement mechanisms. Sci Tech Hum Values 30(2):251–290

    Article  Google Scholar 

  23. Kaufman D, Murphy J, Scott J et al (2008) Subjects matter: a survey of public opinions about a large genetic cohort study. Genet Med 10:831–839

    Article  PubMed  Google Scholar 

  24. Kaufman D, Murphy J, Erby L, Hudson K, Scott J (2009) Veterans’ attitudes regarding a database for genomic research. Genet Med 11:329–337

    Article  PubMed  Google Scholar 

  25. Godard B, Marshall J, Laberge C (2007) Community engagement in genetics research: results of the first public consultation for the Quebec CARGaGENE project. Community Genet 10:147–158

    Article  PubMed  Google Scholar 

  26. Hoeyer K, Olofsson B, Mjorndal T, Lynöe N (2004) Informed consent and biobanks: a population-based study of attitudes towards tissue donation for genetic research. Scand J Public Health 32:224–229

    Article  PubMed  Google Scholar 

  27. Haddow G, Cunningham Burley S, Bruce A, Parry S (2008) Generation Scotland: consulting publics and specialists at an early stage in a genetic database’s development. Crit Publ Health 18(2):139–149

    Article  Google Scholar 

  28. Rotimi C, Leppert M, Matsuda I, Zeng C, Zhang H, Adebamowo C, Ajayi I, Aniagwu T, Dixon M, Fukushima Y, Macer D, Marshall P, Nkwodimmah C, Peiffer A, Royal C, Suda E, Zhao H, Wang VO, McEwen J, International HapMap Consortium (2007) Community engagement and informed consent in the International HapMap project. Community Genet 10:186–198

    Article  PubMed  Google Scholar 

  29. Lemke A, Wu J, Waudby C, Pulley J, Somkin C, Trinidad S (2010) Community engagement in biobanking: experiences from the eMERGE network. Genomics Soc Policy 6(3):35–52

    PubMed Central  PubMed  Google Scholar 

  30. National Human Genome Research Institute. Community Genetics Forum (2007) http://www.genome.gov/19518473. Accessed 16 Apr 2014, Accessed 2 Apr 2014

  31. Etchegary H, Dicks E, Hodgkinson K, Pullman D, Green J, Parfrey P (2010) Public attitudes about genetic testing in the newborn period. J Obstet Gyne Neonatal Nurs 41(2):191–200

    Article  Google Scholar 

  32. Etchegary H, Green J, Dicks E, Pullman D, Street C, Parfrey P (2013) Consulting the community: public expectations and attitudes about genetics research. Eur J Hum Genet 21:1338–1343

    Article  PubMed Central  PubMed  Google Scholar 

  33. Pullman D, Etchegary H, Gallagher K, Hodgkinson K, Keough M, Morgan D, Street C (2012) Personal privacy, public benefits, and biobanks: a conjoint analysis of policy priorities and public perceptions. Genet Med 14(2):229–235

    Article  PubMed  Google Scholar 

  34. Hahn S, Letvak S, Powell K, Christianson C, Wallace D, Speer M, Lietz P, Blanton S, Vance J, Pericak-Vance M, Henrich VC, Genomedical Connection (2010) A community’s awareness and perceptions of genomic medicine. Public Health Genomics 13:63–71

    Article  CAS  PubMed  Google Scholar 

  35. Haga S, Barry W, Mills R, Ginsburg GS, Svetkey L, Sullivan J, Willard HF (2013) Public knowledge and attitudes towards genetics and genetic testing. Genet Test Mol Biomarkers 17(4):327–335

    Article  PubMed Central  PubMed  Google Scholar 

  36. O’Doherty K, Hawkins A (2010) Structuring public engagement for effective input in policy development on human tissue biobanking. Public Health Genomics 13:197–206

    Article  PubMed Central  PubMed  Google Scholar 

  37. Anderson C, Stackhouse R, Shaw A, Iredale R (2011) The National DNA database on trial: engaging young people in South Wales with genetics. Public Underst Sci 20(2):146–162

    Article  PubMed  Google Scholar 

  38. O’Daniel J, Rosanbalm K, Boles L, Tindall GM, Livingston TM, Haga SB (2012) Enhancing geneticists’ perspectives of the public through community engagement. Genet Med 14(2):243–249

    Article  PubMed  Google Scholar 

  39. Nicols S, Wilson B, Cragie S, Etchegary H, Castle D, Carroll JC, Potter BK, Lemyre L, Little J (2013) Personalizing public health: public attitudes towards genomic risk profiling as a component of routine population screening. Genome 56:626–633

    Article  Google Scholar 

  40. Tait J, Lyall C (2007) Short guide to developing interdisciplinary research proposals. Institute for the Study of Science Teaching and Innovation Briefing Note. http://www.issti.ed.ac.uk/__data/assets/file/0005/77603/ISSTI_Briefing_Note_1.pdf. Accessed 16 Apr 2014

  41. Stokols D, Misra S, Moser R, Hall KL, Taylor BK (2008) The ecology of team science: understanding contextual influences on transdisciplinary collaboration. Am J Prev Med 35(2S):96–115

    Article  Google Scholar 

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Author information

Authors and Affiliations

  1. Division of Community Health and Humanities, Faculty of Medicine, Memorial University of Newfoundland, St. John’s, NL, Canada

    Daryl Pullman

  2. Eastern Health, Memorial University of Newfoundland, St. John’s, NL, Canada

    Holly Etchegary Ph.D.

  3. Clinical Epidemiology, Faculty of Medicine, Memorial University of Newfoundland, 300 Prince Philip Drive, St. John’s, NL, Canada, A1B 3V6

    Holly Etchegary Ph.D.

Authors
  1. Daryl Pullman
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  2. Holly Etchegary Ph.D.
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Corresponding author

Correspondence to Holly Etchegary Ph.D. .

Editor information

Editors and Affiliations

  1. Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada

    Patrick S. Parfrey

  2. Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada

    Brendan J. Barrett

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Pullman, D., Etchegary, H. (2015). Clinical Genetic Research 3: Genetics ELSI (Ethical, Legal, and Social Issues) Research. In: Parfrey, P., Barrett, B. (eds) Clinical Epidemiology. Methods in Molecular Biology, vol 1281. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-2428-8_22

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  • DOI: https://doi.org/10.1007/978-1-4939-2428-8_22

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-2427-1

  • Online ISBN: 978-1-4939-2428-8

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