What Research Ethics Should Learn from Genomics and Society Research: Lessons from the ELSI Congress of 2011

Journal of Law, Medicine and Ethics

Volumn 40, Issue 4, 2012, Pages 1008-1024

  Henderson, Gail E ^a   Juengst, Eric T ^b   King, Nancy M P ^c   Kuczynski, Kristine ^b   Michie, Marsha ^b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ETHICS; GENETICS; GENOMICS; HEALTH CARE FACILITY; HUMAN; INCIDENTAL FINDING; INFORMED CONSENT; INTERPERSONAL COMMUNICATION; LEGAL ASPECT; RESEARCH ETHICS; SOCIAL BEHAVIOR; TRANSLATIONAL RESEARCH; UNCERTAINTY;

BIOLOGICAL SPECIMEN BANKS; DISCLOSURE; ETHICS, RESEARCH; GENETIC RESEARCH; GENOMICS; HUMANS; INCIDENTAL FINDINGS; INFORMED CONSENT; NEGOTIATING; SOCIAL RESPONSIBILITY; TRANSLATIONAL MEDICAL RESEARCH; UNCERTAINTY;

EID: 84872138291     PISSN: 10731105     EISSN: 1748720X     Source Type: Journal    
DOI: 10.1111/j.1748-720X.2012.00728.x     Document Type: Article

References (51)

1. The "2011 ELSI Congress: Expanding the ELSI Universe" was held in Chapel Hill, NC, from April 12-14, hosted by the Center for Genomics and Society at the University of North Carolina at Chapel Hill, an NHGRI-funded Center of Excellence in ELSI Research (P50 HG004488, Gail Henderson, PI). The Congress was funded by a supplement to this center grant. Other sponsors included the Carolina Center for Genome Sciences; the UNC School of Medicine, Department of Social Medicine; the UNC Center for Bioethics; the Wake Forest University Center for Bioethics, Health and Society; and the North Carolina Translational and Clinical Sciences Institute.
2. In the fall of 2003, the NHGRI in collaboration with U.S. Department of Energy (DOE) and the National Institute of Child Health and Human Development (NICHD) launched a new initiative to create interdisciplinary Centers of Excellence in ELSI Research (CEER). The CEERs are designed to bring investigators from multiple disciplines together to work in innovative ways to address important new, or particularly persistent, ethical, legal, and social issues related to advances in genetics and genomics. In addition, the centers will support the growth of the next generation of researchers on the ethical, legal and social implications of genomic research. Special efforts will be made to recruit potential researchers from under-represented groups.
3. In January, 1990, the ELSI Working Group issued its first report and defined the function and purpose of the ELSI program as follows: "1. To anticipate and address the implications for individuals and society of mapping and sequencing the human genome; 2. To examine the ethical, legal and social consequences of mapping and sequencing the human genome; 3. To stimulate public discussion of the issues; 4. To develop policy options that would assure that the information be used to benefit individuals and society." The ELSI Working Group envisioned a program that would anticipate problems and identify possible solutions and suggested a number of means to accomplish these goals. Specifically, it encouraged the research community to explore and gather data on a wide range of issues pertinent to the Human Genome Project that could be used to develop education programs, policy recommendations or possible legislative solutions. A number of focus areas were identified, including: fairness in the use of genetic information; the impact of knowledge of genetic variation on individuals; and privacy and confidentiality of genetic information. Seehttps://www.genome.gov/10001754#al-2accessed%2012/14/20122012
4. The Planning Committee was composed of ELSI researchers, both CEER and non-CEER affiliated. It also included two individuals from outside the U.S. and members of the ELSI program staff. The following were members: Barbara Bernhardt, Joy Boyer, Tim Caulfield, Wendy Chung, Bob Cook-Deegan, Aaron Goldenberg, Gail Henderson, Eric Juengst, Jane Kaye, Nancy King, Sandra Lee, Jean McEwen, Nancy Press, Charmaine Royal, Elizabeth Thomson, and Marcia Van Riper.
5. Volunteer note takers for the Congress included: Astrid Ertola, Brooke Cunningham, Charlisse Caga-Anan, Cheryl Brewer, Colleen Clarke, Dragana Lassiter, Greg Guzaukas, Jane Peace, Jessica Erickson, Joon-Ho Yu, Karey Sutton, Kate McGlone West, Kathryn Maxson, Katie Byerly, Kelly Hogan, Krysta Shutske, Laura Wagner, Lauren Milner, Lauryn Sayres, Leila Jamal, Llida Barata, Marsha Michie, Martha King, Megan Allyse, Michele Easter, Michelle Montgomery, Nanibaaa' Garrison, Rachel Haase, Sarah Knerr, Sondra Smolek, Sony Tuteja-Stevens, and Wendell Fortson.
6. On February 10, 2011, Nature magazine published NHGRI's strategic plan for the future of human genome research: "Charting a course for genomic medicine from base pairs to bedside." This plan includes a section on Genomics and Society that outlines four areas that will need to be addressed as genomic science and medicine move forward. Based on these areas, the NHGRI has developed the following broad research priorities: 1. Genomic Research. The issues that arise in the design and conduct of genomic research, particularly as it increasingly involves the production, analysis and broad sharing of individual genomic information that is frequently coupled with detailed health information. 2. Genomic Health Care. How rapid advances in genomic technologies and the availability of increasing amounts of genomic information influence how health care is provided and how it affects the health of individuals, families and communities. 3. Broader Societal Issues. The normative underpinnings of beliefs, practices and policies regarding genomic information and technologies, as well as the implications of genomics for how we conceptualize and understand such issues as health, disease, and individual responsibility. 4. Legal, Regulatory and Public Policy Issues. The effects of existing genomic research, health and public policies and regulations and the development of new policies and regulatory approaches. Seehttp://www.genome.gov/10001618#al-22012
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20. The following articles present findings from a study (R01 HG 02087, Gail Henderson, PI) of perceptions of benefit in gene transfer trials:
21. L. R. Churchill, D. K. Nelson, and G. E. Henderson et al., "Assessing Benefits in Clinical Research: Why Diversity in Benefit Assessment Can Be Risky,"IRB: Ethics and Human Research 25, no. 3 (2003): 1-8
22. G. E. Henderson, A. M. Davis, N. M. P. King et al., "Uncertain Benefit: Investigators' Views and Communications in Early Phase Gene Transfer Trials," Molecular Therapy 10, no. 2 (2004): 225-231
23. N. M. P. King, G. E. Henderson, and L. R. Churchill et al., "Consent Forms and the Therapeutic Misconception: The Example of Gene Transfer Research,"IRB: Ethics and Human Research 27, no. 1 (2005): 1-8
24. G. E. Henderson, M. E. Easter, and C. R. Zimmer et al., "Therapeutic Misconception in Early Phase Gene Transfer Trials,"Social Science and Medicine 62, no. 1 (2006): 239-53
25. G. E. Henderson, L. R. Churchill, and A. M. Davis et al., "Clinical Trials and Medical Care: Defining the Therapeutic Misconception,"Public Library of Science-Medicine 4, no. 11 (2007): 1735-1738.
26. S. M. Wolf "Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations,"Journal of Law, Medicine & Ethics 38, no. 2 (2008): 216-435
27. Wolf has argued that clinical researchers have an obligation to return incidental findings, while E. Clayton, among others, has argued for caution; see E. W. Clayton, "Incidental Findings in Genetics Research Using Archived DNA,"Journal of Law, Medicine & Ethics 38, no. 2 (2008): 286-291.
28. NHGRI issued a press release on September 26, 2011, announcing seven grants awarded under a new call for research on return of results in genomic research:?The National Human Genome Research Institute (NHGRI) today awarded seven grants, totaling $5.7 million, aimed at untangling one of the knottiest ethical issues facing genomic researchers. Under the microscope are issues around if, when and how researchers should return to study participants information about their risk for diseases or conditions discovered during studies of their genomes... Researchers have widely varying opinions on the 'return of results' issue. Some believe that they have an ethical or legal obligation to reveal to study participants their genomic information - especially if it is medically significant and interventions can prevent or reduce the risk of a disorder. Others consider sharing such information unethical - especially if the research participant was told he or she would not be re-contacted, if the information relates to a disorder for which there is no known intervention, or if the precise medical significance of the information is unclear. Researchers on both sides of the question must also consider regulatory and policy issues related to bringing genome sequencing to clinical applications. Until now, researchers have had very little data to guide their decisions, except for research that asks people hypothetically whether they want incidental findings returned to them. An incidental finding is a health finding about a research participant that is discovered in the course of conducting research but is not the central aim of the study. What people want in the abstract may be very different from what they want in an actual genomic research setting. See (last visited December 7, 2012). On December 6, 2011, they issued a press release for Clinical Sequencing Exploratory Research Projects. To help speed up the application of genomic science to medical care, NHGRI will invest $40 million over four years to support five Clinical Sequencing Exploratory Research Projects, in which new multi-disciplinary research teams will explore the ways in which healthcare professionals may use genome sequencing information in a medical care setting. Physicians, ethicists, genomic scientists, patients and families will work together to learn important lessons about the use of genome sequencing in medical care and to develop methods to improve its use in the future...Clinical Exploratory Research Projects will answer questions such as how to incorporate genomic data into medical records, what tools are needed to extract relevant information from a patient's genome sequence, and how the availability of genome sequence data affects a physician's recommendations regarding treatment. The research will include important ethical and psycho-social elements, such as how patients should be counseled and educated before having their genome analyzed, the best way to acquire patient consent to participate in a study, and when to return findings to patients that are not related to the primary medical condition for which the test was done. The program will also provide a forum for the development and dissemination of innovative and best practices for clinical genome sequencing. At <> (last visited December 7, 2012).http://www.nih.gov/news/health/dec2011/nhgri-06.htm,http://www.genome.gov/27545526
29. D. B. Bailey, Jr.,D. Skinner, A. M. Davis, I. Whitmarsh, and C. Powell, "Ethical, Legal, and Social Concerns about Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues," Pediatrics 121, no. 3 (2008): e693-e704
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32. L. F. Ross, Research Review, "Screening for Conditions That Do Not Meet the Wilson and Jungner Criteria: The Case of Duchenne Muscular Dystrophy,"American Journal of Medical Genetics 140 8 (2006): 914-922.
33. E. Juengst, "Metagenomic Metaphors: New Images of the Human from 'Translational' Genomic Research," In M. Drenthen, J. Keulartz, and J. Proctor, eds., New Visions of Nature: Complexity and Authenticity (New York Springer, 2009): 128-153.
34. E. Burchard, E. Ziv, and N. Coyle et. al., 'The Importance of Race and Ethnic Background in Biomedical Research and Clinical Practice," New England Journal of Medicine 348, no. 12 (2003): 1170-1175
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40. See the Institute of Medicine volume which documents the impacts of uncertainty on racial stereotyping in clinical care. B. D. Smedley, A. Y. Stith, and A. R. Nelson, eds., Unequal Treatment: Confronting Racial and Ethnic Disparities in Health Care (Washington, D.C.: National Academies Press, 2003
41. A phrase coined by Eric Juengst to illustrate our point on behalf of the Center for Genetic Research Ethics and Law (CGREAL) at Case Western Reserve University. E. Juengst, NIH Grant Application #2 P50-HG003390-06, "Center for Genetic Research Ethics and Law," April 15, 2009.
42. A typology also anticipated by the research plan that currently frames the work of our CGREAL colleagues at Case Western Reserve University. E. Juengst, NIH Grant Application #2 P50-HG003390-06, "Center for Genetic Research Ethics and Law," April 15, .2009
43. World Medical Association Declaration of Helsinki, "Ethical Principles for Medical Research Involving Human Subjects,"available at http://www.wma.net/en/30publications/10policies/b3/2012
44. R. J. Levine, "The Need to Revise the Declaration of Helsinki,"New England Journal of Medicine 341, no. 7 (1999): 531-534.
45. Note how early-phase melanoma research is described and discussed in A. Harmon, "Target Cancer' Series,"New York Times, available at http://topics.nytimes.com/top/news/health/series/target_cancer/index.html2012
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51. Presidential Commission for the Study of Bioethical Issues, Moral Science: Protecting Participants in Human Subjects Research (December 15, 2011).