As the ELSI portfolio of research, policy and education activities has grown, the following four areas have been identified as having a high priority for current and future ELSI activities.

1. Privacy and Fairness in the Use and Interpretation of Genetic Information

Genetic information is being discovered at an increasingly remarkable pace. In some cases, however, not enough is known about the meaning of genetic information or how it is being interpreted and used. The risk of genetic discrimination grows as new disease susceptibility genes are identified. Activities that examine these issues and develop guidelines and frameworks for ensuring the safe and appropriate use of genetic information are crucial to the success of the Human Genome Project.

Specific topics in this area would include, but are not limited to:

• the privacy and confidentiality of genetic information, including questions of ownership and control of genetic information, and consent to disclosure and use of genetic information;
• questions of the fair use of genetic information (e.g., insurance, employment, the criminal justice system, the educational system, adoption, and the military);
• conceptual and philosophical implications raised by genetics research, such as its implications for such concepts as personal identity and responsibility, genetic determinism and reductionism, and health and disease;
• the uses and misuses of genetic information in the past and the relevance of the historical experience to current practices and policies;
• the impact of genetic information, including genetic information about mental disorders, on the individual and on social groups, including questions of individual and group psychological responses, family relationships, and stigmatization.
• studies on cultural differences in the uses of genetic information; and
• the effect of genetic information on the concept of disability.

2. Clinical Integration of New Genetic Technologies

As new genetic technologies are moving rapidly from research into the clinical practice arena, concerns have been raised that, in some cases, not enough is known about the impact of these findings on people's lives and health. Furthermore, questions have arisen as to whether health professionals have been adequately educated about genetics, genetic technologies and the ethical, legal, and social implications surrounding their use in order to optimally provide genetic services to their patients. As a result, activities that examine these issues have been identified as having high priority for ELSI support.

Specific topics in this area include, but are not limited to:

• issues in the delivery of individual and family genetic counseling and testing and population-based genetic screening, including:
  • the elements of informed consent for individuals considering genetic testing;
  • policies related to effectively maintaining privacy and confidentiality of genetic information in individuals and families who have undergone genetic testing;
• issues raised by the increased availability of genetic tests for reproductive risk assessment, prenatal testing, pre-symptomatic testing, predisposition testing, testing for disorders for which no therapeutic intervention is available, and testing for mental disorders and other multifactorial disorders;
• the effect of prenatal genetic information on parents, other family members, and others involved in making reproductive decisions;
• studies of cultural differences and similarities in the use or non-use of genetic testing and counseling services;
• issues raised by the introduction of an increased amount of genetic information into mainstream health care practice; and
• issues specifically raised in the delivery of psychiatric genetic counseling services.

3. Issues Surrounding Genetics Research

Genetics research may result in the discovery of information that is powerful and potentially predictive. In addition, such information may have familial implications. While in some cases such information may be beneficial to research subjects and their families, there is also potential for misinterpretation or misuse. Special concerns have arisen about the process of informed consent, particularly when the risks and benefits of research participation may not be fully known. Concerns have also arisen about how best to prevent the preliminary or premature release of research results and to protect the privacy of individuals who choose to participate in genetics research. Examination of existing research guidelines and recommendations over the past five years has revealed that current guidance and protections need to be enhanced in order to deal with the special considerations related to genetics research. As a result, a third priority area identified for the ELSI program pertains to issues surrounding the conduct of genetics research.

Specific topics in this area include, but are not limited to:

• the elements of informed consent for individuals participating in genetics research;
• the role of institutional review boards (IRBs) in dealing with genetics research;
• issues related to the involvement of individuals and their families in genetics research;
• policies related to effectively maintaining privacy and confidentiality of genetic information about individuals and families participating in genetics research;
• questions raised by the commercialization of the products from human genetics research (e.g. ownership of tissue and tissue derived products, patents, copyrights, and accessibility of data and material); and
• issues surrounding the development and use of experimental gene-based diagnostic tools and therapies.

4. Public and Professional Education

It has become increasingly clear that most members of the general population and most health professionals are not knowledgeable about genetics, genetic technologies and the possible ethical, legal, and social implications of having genetic information. This has become more apparent as the results of a number of ELSI-funded surveys have become available. The new information generated by the Human Genome Project and human genetics research are changing biomedical research, the practice of medicine, and public perceptions about genetic information and technologies. It is imperative that members of the public have an adequate understanding of the meaning of newly discovered genetic information. It is also essential that our nation's health professionals have the knowledge, skills, and resources to effectively integrate this new knowledge and these technologies into the diagnosis, prevention, and treatment of disease. Without knowledgeable health professionals and members of the public, the advances in genetics research will not be fully realized. Thus, a fourth high priority area that has been identified for the ELSI program is public and professiional education.