Ethical Issues in Genomics Research

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Ethical Issues in Genomics Research

• Dan W. Brock
• Department of Clinical Bioethics
• National Institutes of Health
• USA

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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.

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WHO Report

• Genomics and World Healthissued 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.

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General Ethical Concerns

• Benefits of medical genomics will be
  expensivepotential 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.

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

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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
• informatione.g. is about families and can be
  highly predictive of future health.
• interventionse.g. because allow control of which
  kinds of children will be born, raising eugenic
  concerns.

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• 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 womens
  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.

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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.

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• Genetic screening should require informed
  consenteven 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.

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• 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.?

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

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• 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.

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• 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.

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• 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.

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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.

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• 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.

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• 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.

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• 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.

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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 womens rights,
  introduction of genetic testing can reduce
  womens 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.

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• 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.

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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.

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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.

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• 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 justicesacrifice 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.

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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,

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• 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.

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Research into Non Therapeutic Genetic
InterventionsGenetic 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.

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• 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.

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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.