Ethical Issues in Genomics Research

1. Ethical Issues in Genomics Research Dan W. Brock Department of Clinical Bioethics National Institutes of Health USA

2. Disclaimer The views in this presentation are my own and do not represent any policies or positions of the U.S. National Institutes of Health, the Public Health Service, or the Department of Health and Human Services.

3. WHO Report • Genomics and World Health—issued by the Advisory Committee on Health Research of WHO in March 2002. • Writers: David Weatherall (lead writer), Heng-Leng Chee and Dan Brock. • Focuses on implications of genomics for developing countries and WHO role. • I am going to draw on work I did on the ethical issues in genomics research in that report.

4. General Ethical Concerns • Benefits of medical genomics will be expensive—potential to exacerbate inequalities in health and health care. • There are limited incentives for for-profit entities (e.g. big pharmas) to focus on health problems of developing countries. • Traditional ethical issues (informed consent, confidentiality, etc) are different because of the nature of genetic information and the social, economic, political, and cultural contexts of developing countries.

5. Many countries lack trained bioethicists and regulatory infrastructure to deal with these issues.

6. Traditional Ethical Issues in Research in the Context of Genomics and Developing Countries • Issues such as informed consent, confidentiality, and discrimination are not new, but can take different forms. • Because of differences in genetic: • information—e.g. is about families and can be highly predictive of future health. • interventions—e.g. because allow control of which kinds of children will be born, raising eugenic concerns.

7. Because of differences in social, political, economic, religious, and cultural contexts. • For example, in the context of strong sex discrimination against women, genetic testing programs can reduce rather than increase women’s reproductive freedom. • Or in the context of restrictions on the availability of abortion services. • The new choices can be coerced. • For example, in countries with significant private health insurance, genetic risks can make persons uninsurable or unemployable.

8. Informed Consent • Consent process in developing countries should meet international standards but be sensitive to local conditions and practices. • For example, initial permission from community leaders to approach community members can be appropriate. • But this should not replace the consent of individual participants.

9. Genetic screening should require informed consent—even if epidemiological only. • Because of the sensitivity and potential harmfulness to individuals or to communities of the information. • Should be preceded by extensive educational programs.

10. Genetic testing requires genetic counseling in place as part of informed consent. • Though is controversy about extent of counseling required. • For example, pre or post, after all tests or only positive tests, for all or only some genetic tests, etc.?

11. Coercive pressures in genetic testing. • For example, mandatory thalassaemia tests before marriage. • For example, stigmatization for having a child with thalassaemia.

12. Special importance of informed consent in this context because of: • Complexity of the decision when there are no, or only limited, therapeutic options. • Low educational levels in some developing countries. • Medical care may only be available through research participation. • Here the worry is exploitation of subjects. • Outside researchers in developing countries often have research agendas different from the health needs of the host country.

13. In general, there is a high potential for exploitation in this context. • Informed consent should not be the only means of regulating genetic research. • Prior regulation should be at the IRB level screening what research can be offered to potential subjects. • Developing countries need to develop regulatory capacities for research. • For example, through Fogarty sponsored training programs and NIH Bioethics department workshops in Africa.

14. Informed consent issues with genetic data bases. • Opt-in vs. opt-out (so-called presumed) consent. • In general opt-in consent should be used. • Presumed consent is not a form of consent, but an abandonment of the requirement of individual consent. • Use of information for purposes beyond those for which consent has been given. • Consent can be for open ended future research use. • When consent is for specific limited uses, additional use requires recontact and new consent.

15. Confidentiality to Prevent Stigmatization and Discrimination • Genetic information is different than other medical information, in degree if not in kind. • It is typically about family members as well as the patient tested. • Patients sometimes have a moral obligation to provide genetic information to affected family members. • For example, when the information impacts other family members’ reproductive choices or health.

16. Many believe providers should be able to provide genetic information to family members in some cases, even without the consent of the patient if necessary. • In family contexts, the confidentiality protection may be weaker than elsewhere. • Individuals may have special responsibilities to other family members. • On the other hand, protection of confidentiality in the family is important when disclosure of genetic information to family members will lead to coercion or harm to the subject.

17. In other contexts the confidentiality requirement may be stronger and warrant special protections. • The predictive potential of genetic information means that others can use it to discriminate against or stigmatize its subject. • It can be used to deny or make health insurance unaffordable. • This will be an increasing concern as genetic tests become cheaper and more common, and health care is increasingly privatized.

18. Similar concerns exist for its use by employers to deny employment. • Genetic testing should not be introduced in a country without enforceable prohibitions on its use in health insurance or employment.

19. Gender Issues • In strongly patriarchal societies women can be subject to coercion to pursue, or not to pursue, genetic testing. • This can in lead to coerced choices in the use of that information. • Without strong protections of women’s rights, introduction of genetic testing can reduce women’s reproductive freedom. • For example, in the context of practices of arranged marriage it can make some women unmarriageable. • When neither abortion nor therapeutic options are available, public funds should not be used for pre natal testing.

20. Genetic information can also be used for non therapeutic sex selection. • For example in some areas of India sex selection against females has substantially upset the gender ratio. • Countries and professional organizations should take steps to prevent the use of sex selection when it results from gender bias. • Some believe sex selection may not always be wrong when it is for medical or family balance reasons.

21. Eugenics • The evils of some historical eugenic movements have led to use of the charge of “eugenics” as a discussion stopper. • But many do not consider the goal of eugenics--human betterment through selection--as in itself immoral. • We need to identify what made eugenics movements immoral so as to avoid their mistakes in the current genomic era.

22. Eugenic Evils and Mistakes • Belief in deterioration of the gene pool and encouraging the “fit” to reproduce, and discouraging/preventing the “unfit”. • Who were “fit” and “unfit” were commonly determined by racial, ethnic, class, and national prejudices. • Beliefs in heritability of behavioral traits, and the biological basis and solution of social problems. • Failure to acknowledge different views of a good person and society. • Tendency to favor people like themselves.

23. Role of the state in reproductive choices. • But cumulative effect of voluntary individual choices can have similar bad effects as state coerced choices. • Issues of justice—sacrifice of some individuals’ rights and interests for a (often only putative) greater social good. • In current genomic era, it is obviously important to avoid the mistakes and evils of past eugenic movements. • But the mere charge that a practice is “eugenic” is too unclear and ambiguous to be helpful. • The specific immoral feature of the practice must be clearly identified.

24. Disability Community Critique of Genetic Research and Testing • Objection to the assumption that the “problem” is in the person rather than the social environment. • Environment should be made more accommodating. • Objection to prejudices about the lives of disabled persons. • Often based on ignorance, stereotypes, etc. • Objection to conflation of preventing persons from becoming disabled with preventing the existence of disabled persons. • It is wrong to see persons only in terms of their disabilities,

25. While the objections raise valid points, the goal of children being born healthy and free of disease is ethically sound. • This may be especially important in some developing countries where resources are limited to aid the disabled and stigmatization may be greater. • The ethical task is to ensure that genetic testing for disabilities does not undermine the full moral status and rights of persons living with disabilities.

26. Research into Non Therapeutic Genetic Interventions—Genetic Enhancement • Whether and when enhancement of valued traits may become possible are controversial. • Some international organizations and countries have endorsed permanent blanket prohibitions. • These are ethically problematic. • For example, enhancement of “all purpose means” like memory, intelligence, or the immune system. • These would be benefits to most persons in most circumstances.

27. The most important ethical concern is the potential for greatly increasing social and economic inequalities. • Inequalities within and also between societies. • Latter is a special worry for developing countries. • Enhancements will likely be available only to the privileged who will then be able to confer genetic as well as social advantages on their children. • Regulation rather than prohibition of their use may be appropriate.

28. Conclusion • There is a place for international leadership in developing a broad framework for ethical practice in genomics. • This can be useful to help individual societies decide how to address these issues within the context of their own religious beliefs, social structure, economic conditions, and cultural practices.