ial Implications (ELSI) Program was established as an integral part of the Human Genome Project (48-49). The program has provided leadership in scientific research by identifying, analyzing and addressing the ethical, legal and social implications of human genetics research as basic scientific discoveries were made. The overarching aims of the ELSI Program have been to assure that: (a) genetic research is conducted in an ethically sound manner; (b) genetic technologies and information are appropriated integrated into clinical and non-clinical settings; (c) genetic information is interpreted accurately and used appropriately; and (d) professionals and the public become more "genetically literate."
Over the past decade, emphasis has been placed on privacy and fairness in the use and interpretation of genetic information. Privacy and fairness issues include (a) privacy and confidentiality of genetic information, including issues of ownership and control of genetic information and consent to disclosure and use of genetic information; (b) fair use of genetic information (e.g., related to insurance and employment); (c) individual, family and group psychological interactions and stigmatization related to genetic information; (d) cultural differences in the uses of genetic information; and (e) the impact of genetic information on the concept of disability (48).
Another ELSI research emphasis has been addressing issues related to genetic research, particularly research in which the risks and benefits to participants is not fully known. Specific topics in this area have included the elements of informed consent for individuals participating in genetics research; the role of institutional review boards in genetics research; policies related to effectively maintaining privacy and confidentiality of genetic information about individuals and families participating in genetics research; and issues raised by commercialization of the products from human genetics research (e.g., ownership of tissue and products, patents, etc..).
While much of ELSI research has been driven by concerns about the human rights of individuals and their families in the context of genetic testing for single-gene disorders with relatively high penetrance (e.g., mutations conferring cancer predisposition), the interface between ELSI and public health practice (or PHELSI) leads to a set of concerns that are somewhat different from the traditional clinical practice involving genetic testing and counseling of high-risk families (Table 6). Section V addresses some but not all of these issues, including the interface between public health and the law (chapter 25), the informed consent process in traditional public health genetics programs (chapter 26), and issues surrounding public health surveillance and information systems (chapter 27). At this time, many of these issues are unresolved. Public health leadership is needed be ensure discussion of sensitive issues and consensus building that balances individual rights with societal concerns, and they highlight an urgent need for population-based epidemiologic research.
One issue that has received a lot of attention over the past decade is the informed consent process for using stored genetic research tissue samples (50-2). In a public health setting, stored samples from large-scale national surveys or newborn blood spots could be used to conduct human genome epidemiologic studies for evaluating the impact of genetic variation on the burden of disease in the population. Although there is universal agreement on the need to obtain informed consent from subjects participating in genetic research, opinions differ regarding the use of stored samples from population surveys for which there is no or inadequate informed consent. There has been debate about the practicality of recontacting subjects from population studies; whether or not genetic studies pose more than "minimal risks" to subjects; the definitions and desirability of "anonymization" of existing samples; and whether or not coded but "linked" or "linkable" samples ca