Consultation and Consent: Ethical Issues in Human Population Genetic Research

1. Consultation and Consent:Ethical Issues inHuman PopulationGenetic Research Dennis H. O’Rourke Department of Anthropology University of Utah Salt Lake City UT 2 November 2006

2. Populations Defined • Geographic • Sardinia, Iceland, Pacific Islands, Mountain Valleys, Arctic • Cultural/Social • Religious Isolates • [e.g., Amish, Hutterites, Ashkenazi Jews] • Historic/Political/Ethnic • Utah Mormons, Native American, African-American

3. ELSI • Research Access • Consent Process • Group vs. Individual • Risk/Benefit Assessment • Reporting Constraints • Continuing Communication

4. Ethical Goals • Justice Benefits and Burdens of research fairly distributed • Beneficence Benefits maximized; Risks minimized • Respect Voluntary & Informed Consent

5. Initial Study Design • Initiate Community Dialogue Early • Involve Community in Study Design • How are Decisions Made? • Collectively or Individually? • In family or lineage groups? • Public or Private discussions? • Culturally appropriate locus for decision making

6. Community Negotiation • Permission to Collect Data • Scope of Project • Options for Population Identification • Name community, [ethnic] group/affiliation, geographic location/region, anonymity • Fate of analyzed samples • Archival samples, future research, immortalization of cell lines, extraction of stem cells? • Intellectual Property Issues

7. BIOPIRACY

8. BIOWEAPONS • Genuine fear of [continuing?] Genocide • Often based on historical precedent e.g., Tuskegee Study • Fueled by popular press - • “Gene Research is Leading to Biological Weapons that Target Specific Ethnic Groups” [SLC Tribune headline - 2002]

9. Informed Consent • What are consent boundaries? • e.g., Anonymity, Voluntary withdrawal, Financial risk • How to inform participants re genetic research if basic knowledge of scientific method is limited? • Risks • Personal, Cultural, Ethnic Identities, • Individual Informed Consent • Not entirely adequate in contexts of collective decision making

10. Informed Consent • What are consent boundaries? • e.g., Anonymity, Voluntary withdrawal, Financial risk • How to inform participants re genetic research if basic knowledge of scientific method is limited? • Risks • Personal, Cultural, Ethnic Identities, • Individual Informed Consent • Not entirely adequate in contexts of collective decision making

11. KNOW LOCAL KNOWLEDGE

12. Norwegian Survey • Q: What is a gene? • A: What Americans put in tomatoes. [Courtesy of Andrew Luca]

13. Informed Consent • What are consent boundaries? • e.g., Anonymity, Voluntary withdrawal, Financial risk • How to inform participants re genetic research if basic knowledge of scientific method is limited? • Risks • Personal, Cultural, Ethnic Identities, Thomas Jefferson/Sally Hemmings case; African-American heritage example • Individual Informed Consent • Not entirely adequate in contexts of collective decision making

14. Informed Consent • What are consent boundaries? • e.g., Anonymity, Voluntary withdrawal • How to inform participants re genetic research if basic knowledge of scientific method is limited? • Risks • Personal, Cultural, Ethnic Identities, Financial considerations • Individual Informed Consent • Not entirely, or completely, adequate in contexts of collective decision making

15. Group Consent • Who speaks for the group? • Community/political leaders? • Cultural Leaders/Elders? • Religious leaders? • Who identifies group spokespersons? • Potential to change community power structure, and affect sampling strategy • What is relation between group consent and ‘informed’ or ‘voluntary’ individual consent? • Group consent includes non-participants • Anonymity

16. Anonymity • Why Anonymize? Assure Privacy Maintain Confidentiality • Anonymity can work effectively to protect individuals, but may not be effective for groups - the base of population based research strategies

17. Anonymity & Consent Boundaries • When is anonymity guaranteed? • What is anonymized? • Individual ID? Group ID? • How does anonymity relate to group consent? To privacy? To confidentiality? • Anonymity can compromise ‘voluntary’ withdrawal

18. Consultation & Consent • Multiple successful models • Context, population specific • ONE SIZE DOES NOT FIT ALL

19. Summary • Patience is not a virtue - It is a necessity • If group consent is appropriate, add 50% to project design time - then double it • Don’t oversell

20. Finis • The problem is that no ethical system has ever achieved consensus. Ethical systems are completely unlike mathematics or science. This is a source of concern. Daniel Dennett • By nature's kindly disposition most questions which it is beyond a man's power to answer do not occur to him at all. George Santayana

21. Finis The fact that an opinion has been widely held is noevidence whatever that it is not utterly absurd. Bertrand Russell

22. Acknowledgments • Funding • Office of Polar Programs, National Science Foundation • Wenner Gren Foundation for Anthropological Research • Natural Sciences and Engineering Research Council of Canada • University of Utah • Colleagues & Collaborators • Shawn Carlyle, Hank Greely, Henry Harpending, Eric Juengst, Allen McCartney, James O’Connell, Doug Veltre, Dixie West • Special appreciation to the Norton Sound Health Corporation Scientific Advisory Board Permissions for Destructive Analysis • Aleut Corporation • Chaluka Corporation • Aleutian and Pribilof Islands Association • Inuit Heritage Trust • Kivalliq Inuit Association • Coral Harbour & Chesterfield Inlet communities Samples • Canadian Museum of Civilization • Smithsonian Institution • Western Aleutian Archaeological and Paleobiology Project