International Conference on Molecular and Genetic Epidemiology of Cancer. Philadelphia, PA: American Association for Cancer Research and Society of Toxicology, 2003 Jan; :1-3
There is a robust literature on the ethical issues in genetic and molecular epidemiology. The literature addresses issues of participant recruitment, assurance of privacy and confidentiality, interpretation, and communication of results in terms of ethical principles of autonomy, beneficience, nonmaleficence, respect for persons, and justice. Aspects of these issues need to be revisited as new technologies and considerations raise additional questions. For example, in recruiting participants into studies involving genetic factors, should consent be obtained from family members? A growing literature suggests that third parties, such as family members, may need to be involved in the consent process in some types of studies. They may also need to be considered in the test and study notifications. Similarly, concern exists that various groups, such as racial or ethnic groups, have a stake in the outcome of populations genomics research and should have input in research participation decisions. However, less support exists for such groups having standing compared with family members. The problems of interpreting genetic biomarker epidemiologic studies merit consideration. Researchers will have to guard against over or under interpretations. Over interpretation involves reductionist tendencies to identify complex risk patterns with extensive environmental and behavioral components as merely genetic. Under interpretation is failure to identify clinically relevant findings or findings that represent an early warning of hazard or risk that should be communicated to population groups. Two related overarching issues also need consideration. One is the tension between a person's ability to control genetic information versus the societal expectation to benefit from genetic advances. The other is that if investigators and research agencies over invest in searches for genetic underpinnings of every discrete health outcome and ignore environmental exposures and attributable risks, they may misuse societal resources and miss opportunities to prevent disease. Much valuable information is yet to be discovered concerning the genetic components of complex diseases and such research should be supported. However, the public health and medical relevance of such research and the opportunity costs of using public funds should be continually considered. Ultimately, only when both genetic and environmental factors are known will the full range of preventive strategies be able to be applied to cancer. However, the steps in reaching that ultimate capability contain choices that have ethical, social, and scientific implications. Many known ethical issues involving genetic biomarkers will be exacerbated by technologies of genomics, toxicogenomics, or proteomics that have multiple outputs. Investigators will face much uncertainty about the meaning of these outputs and when outcomes are identified that are clinically relevant to participants. High outcome technologies will be likely to raise questions of what constitutes "ab-normalcy" and the attendant issues of stigmatization, labeling, and other societal reactions.
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