ELSI

The ELSI portions of NIH 5 Year plans.

1. The earliest goals.

• At its first meeting in September 1989, the ELSI working group identified nine topics of relevance to the genome project:
  
  1. fair use of genetic test information in areas such as insurance, employment, criminal justice, education, adoption, and the military;
  2. impact of genetic information on individuals;
  3. personal privacy and confidentiality of genetic information;
  4. impact that the dramatic increase in human genetic information will have on genetic counseling and the delivery of genetic services;
  5. influence of genetic information and new technologies on reproductive decisions;
  6. issues raised by the introduction of new genetic information and technologies into mainstream medical practice;
  7. historical analysis of the use and misuse of genetic information and technologies;
  8. issues raised regarding the commercialization of research results; and
  9. conceptual and philosophical questions related to human genetics.

• The Joint Working Group on the Ethical, Legal, and Social Issues (ELSI) Related to Mapping and Sequencing the Human Genome held its first workshop on February 5-6, 1990, at Williamsburg, Virginia.

  After consideration and discussion of these topics, workshop participants developed the four priority areas that are highlighted below.

  1. Cystic Fibrosis Experience
  2. Insurance Coverage
  3. Education, Outreach
  4. Confidentiality Guidelines

• The announcement in May 1990 that NIH and DOE were accepting grant applications stated that the working group has several goals.
  
  
  1. to stimulate bioethics research and assist DOE and NIH in refining their respective research activities;
  2. to identify issues likely to arise as human genetics research progresses, promote public discussion of those issues, and develop policy options to deal with them;
  3. to reach out to groups likely to be affected by genome research, such as those organized around specific diseases or disabilities;
  4. to promote education of professional and lay groups; and
  5. to collaborate with international groups such as the Human Genome Organisation (HUGO); United Nations Educational, Scientific, and Cultural Organization (UNESCO); and the European Economic Community (EEC).

91-95 Plan Excerpt

D. Ethical and Legal Considerations

The plan to map and sequence the entire human genome is predicated on the belief that humankind will benefit immensely from attendant advances in medicine, biological research, and biotechnology. Yet, as with any new technology, controversial uses of the information and capabilities that will flow from the Human Genome Initiative also may emerge. Ethical, legal, and social issues arise in regard to ways of ensuring that this information is used in the most responsible manner.

Some of the questions that must be considered concern individual privacy and confidentiality. Should information about an individual's genetic makeup become available to others without that person's knowledge and permission? How can we assure that genetic information does not lead to stigmatization or to discrimination in areas such as insurance or employment?

Concerns also arise in connection with the medical applications resulting from the genome program, such as with the anticipated ability to predict a person's future health. Initially, at least, there will be a lapse--in many cases of years--between the a ability to diagnose certain genetic disorders and the ability to treat them. How will an individual cope with a devastating diagnosis when no treatment is available? What issues does such a situation raise?

These questions are not new. Physicians and counselors are facing them today when treating patients with genetic and other diseases. However, the greatly increased flow of information about human genetics will make the need to deal with these issues more e compelling.

The NIH and DOE human genome programs will provide for the support of studies that investigate concerns such as these. About 3 percent of the genome budget will be available for activities that address ethical, social, and legal issues related to the project.

A series of specific recommendations for the research agenda and related activities in the ethics component of the human genome program has been developed by a joint DOE/NIH working group on ethics. These recommendations will guide the program over the n next five years and will continue to be refined as the program proceeds. A complete report of the ethics working group is attached (Appendix 7).

The purpose of the ethics component of the human genome program is to:

1. address and anticipate the implications for individuals and society of mapping and sequencing the human genome;
2. examine the ethical, legal, and social sequelae of mapping and sequencing the human genome;
3. stimulate public discussion of the issues;
4. develop policy options that would assure that the information is used for the benefit of the individual and society.

The program will endeavor to anticipate problems before they arise and develop suggestions for dealing with them that would forestall adverse effects. The approach to accomplishing these objectives will be to:

1. stimulate research on the issues through grants;
2. refine the research agenda through workshops, commissioned papers and invited lectures on specific topics selected by the working group on ethics;
3. solicit public testimony from the community at large through town meetings;
4. support the development of educational materials for all levels;
5. encourage international collaboration in this area.

5 YEAR GOAL: Develop programs addressed at understanding the ethical, legal and social implications of the human genome project. Identify and define the major issues and develop initial policy options to address them.

95-98 Plan Excerpt

Ethical, Legal and Social Implications (ELSI)

The ELSI components of the Human Genome programs of NIH and DOE are strongly connected with genomic research, so that policy discussions and the recommendations developed are couched in the reality of the science. To date, the focus of the ELSI programs has been on the most immediate potential applications in society of genome research. Four areas were identified by advisors to the ELSI program for initial emphasis: privacy of genetic information, safe and effective introduction of genetic information in the clinical setting, fairness in the use of genetic information and professional and public education. The program gives strong emphasis to understanding the ethnic, cultural, social and psychological influences that must inform policy development and service delivery. Initial policy options for genetic family studies, clinical genetic services, and health care coverage have been developed and reports on a range of urgent issues are expected by 1995.

As the genome project progresses, the need to prepare for broad public impact becomes increasingly important. Policies are needed to anticipate the potential consequences of widespread use of genetic tests for common conditions, such as genetic predisposition to certain cancers or genetic susceptibility to certain environmental agents. In addition, as the genetic elements of behavioral and other non-disease related traits are better understood, increased educational efforts will be needed to prevent stigmatization or discrimination based on these traits. Continued emphasis onstigmatization or discrimination based on these traits. Continued emphasis on public and professional education at all levels will be critical to achieving these goals. Mechanisms for developing policy options that build on the current research portfolio and actively involve the public, the relevant professions and the scientific community need to be developed.

Goals

1. Continue to identify and define issues and develop policy options to address them
2. Develop and disseminate policy options regarding genetic testing services with widespread potential use
3. Foster greater acceptance of human genetic variation
4. Enhance and expand public and professional education that is sensitive to sociocultural and psychological issues

98-2003 Plan Excerpt

Goal 6--Ethical, Legal, and Social Implications (ELSI)

While recognizing that genetics is not the only factor affecting human well-being, the NIH and DOE are acutely aware that advances in the understanding of human genetics and genomics will have important implications for individuals and society. Examination of the ethical, legal, and social implications of genome research is, therefore, an integral and essential component of the HGP. In a unique partnership, biological and social scientists, health care professionals, historians, legal scholars, and others are committed to exploration of these issues as the project proceeds. The ELSI program has generated a substantial body of scholarship in the areas of privacy and fair use of genetic information, safe and effective integration of genetic information into clinical settings, ethical issues surrounding genetics research, and professional and public education. The results of this research are already being used to guide the conduct of genetic research and the development of related health professional and public policies. The ELSI program has also stimulated the examination of similar issues in other areas of the biological and medical sciences.

Continued success of the ELSI program will require attention to the new challenges presented by the rapid advances in genetics and its applications. As the genome project draws closer to completing the first human genome sequence and begins to explore human sequence variation on a large scale, it will be critical for biomedical scientists, ELSI researchers, and educators to focus attention on the ethical, legal, and social implications of these developments for individuals, families, and communities. The new goals for ELSI research and education can be visualized as a pyramid of interrelated issues and activities (Fig. 3). Given the complexity of the issues encompassed by the ELSI goals, only a summary of the major areas is presented here. To illustrate more fully the breadth and range of the issues that will be addressed, a Web site has been created that provides examples of the types of research questions and education activities envisioned within each goal (www.nhgri.nih.gov/98plan/elsi/).

The major ELSI goals for the next 5 years are:

a) Examine the issues surrounding the completion of the human DNA sequence and the study of human genetic variation.

b) Examine issues raised by the integration of genetic technologies and information into health care and public health activities.

c) Examine issues raised by the integration of knowledge about genomics and gene-environment interactions into nonclinical settings.

d) Explore ways in which new genetic knowledge may interact with a variety of philosophical, theological, and ethical perspectives.

e) Explore how socioeconomic factors and concepts of race and ethnicity influence the use, understanding, and interpretation of genetic information, the utilization of genetic services, and the development of policy.