• 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

• The effect of genetic information on the concept of disability

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.

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

• Issues specifically raised in the delivery of psychiatric genetic counseling services

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.

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)

• Issues surrounding the development and use of experimental gene-based diagnostic tools and therapies

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 HGP and human genetics research is 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.

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

• Education of health professionals about genetics, genetic testing and counseling, and genetic disorders that cause both physical and mental disabilities and other health problems; education abut related ethical, legal and social implications of new genetic technologies (e.g. model programs that increase health professionals' knowledge and abilities to give their patients accurate, timely, and appropriate information about these issues)

• Education of the public including public educators about genetics, genetic testing and counseling, and genetic disorders that cause both physical and mental disabilities and other health problems; education about related ethical, legal, and social implications of new genetic technologies (e.g., model programs for teacher education; model programs for K-12)

• Education of policy makers about genetics, genetic disorders, genetic technologies and ethical, legal and social implications, including possible misinterpretations or misuses of genetic information

• Education of health professionals on the skills specific to psychiatric genetic counseling

• Studies of advantages and disadvantages of various educational approaches and settings for the public, patients and health professionals

Source: The National Human Genome Research Institute, National Institutes of Health