The ELSI department also funded a research project to identify the ethical, legal, and social implications of HGP from the perspective of two Native American communities (University of Oklahoma-Foster). The investigators intend to examine the decision-making process with particular emphasis on collective decision-making and the extent of communal authority over individual members. The results of this project will be used to develop an optimal approach for these minority communities that is more general and culturally appropriate. Splicing Life recommended that the National Institutes of Health review advances in gene therapy through its advisory committee on recombinant DNA and that the NIH examine the far-reaching implications of starting gene therapy. The Advisory Committee on Recombinant DNA adopted this recommendation in April 1983 and began discussing the benefits of the new technology and assessing its social impact. A working group on human gene therapy was established later this year. The working group drafted “Issues for consideration in the design and submission of human somatic cell gene therapy protocols”, which were adopted in 1986 as a key document for public oversight of the new technology (Fletcher, 1990; Murray, 1990; Walters, 1992). The working group was later reconstituted as the current Subcommittee on Human Gene Therapy. Thus, the work of the Presidential Commission and the Subcommittee on Human Gene Therapy has duly taken into account the concerns of gene therapy research. The ELSI budget increased from 3 per cent in FY1990 ($1.5 million) to 4.7 per cent in FY91 to an average of 5.1 per cent in FY92 to 95 ($6.3 million in FY 1995).

This paper currently represents the largest investment in bioethical research from a single source. Although it is not clear whether the ELSI Working Group was willing to accept the challenges listed above or otherwise assign them, the specific objectives of the programme were addressed in the original five-year plan. HGP is a global research effort to analyze the structure of human DNA by determining the position of the estimated 100,000 genes in the human genome and identifying the sequence of their 3,000,000,000 base pairs. The information generated by the HGP will be an important resource for all areas of basic and behavioral biomedical research in the 21st century. HGP`s products will benefit science, medicine and health by improving knowledge about human growth and development and the limitless nature of human variability. It will improve the understanding of health and diseases in which genes play a role, and lead to the development of treatments for many of the thousands of diseases that affect humanity today. The ELSI research programme promotes basic and applied research on the ethical, legal and social implications of genetic and genomic research for individuals, families and communities. The National Institutes of Health (NIH) and Department of Energy (DOE) Human Genome Project was launched in fiscal year 1988 as a federal budget item to map and sequence all genetic information in the human genome. The project, the first major biology initiative funded by the federal government, is expected to last 15 years and cost about $3 billion. Celebrated simultaneously as the search for the biological “holy grail” (Hall, 1990) and great science in its worst form (Lewin, 1986a, 1986b; Walsh and Marks, 1990), the Human Genome Project is unprecedented in many ways.

In addition to being a “great biology,” the NIH-DOE research alliance was also a first (see Cook-Deegan, 1991; NRC, 1988; OTA, 1988), as well as the allocation of 3% of the research budget to the study of the ethical, legal and social implications of the application of knowledge acquired through the mapping and sequencing research enterprise. Never before has the German government plunged headlong into such an ambitious research agenda while supporting efforts that would raise questions about the wisdom, pace and possible social consequences of its actions. More than three decades ago, the National Center for Human Genome Research (NCHGR) of the National Institutes of Health (NIH) and its Human Genome Project (HGP) partner, the Department of Energy (DOE), in the United States, challenged proposals by social scientists, ethicists, lawyers, and others to study the ethical implications. legal and social (ELSI) mapping and sequencing of the human genome. Today, nearly twenty years after the completion of the HGP, the ELSI research programme of the National Human Genome Research Institute (NHGRI) continues this support. It has fostered the growth of ELSI research in a global field of study, uniquely positioned at the intersection of many academic disciplines and close to basic and applied scientific research. We look at the formation of the first ELSI programme and examine whether science policy can exist in the public interest within the limits of setting aside the NHGRI budget. In its first year of existence, the ELSI programme was also supported by four scientific conferences to begin “the process of developing a sound professional and social policy” on these topics. In its first annual report, the program states that it has achieved four important preliminary objectives: (1) to open discussions on ELSI issues by the public, the scientific community and policy makers; (2) the launching of a research program; (3) facilitate the development of professional and social policies; and (4) the promotion of public education. Indeed, one of the main objectives of the ELSI programme was to ensure the development of important factual information which is currently lacking with regard to social policy and genetic information. It is questionable whether the development of this information through the peer review and grant-making process is effective or productive.

Under the Cystic Fibrosis Initiative, projects were initiated only two years after the discovery of the FIBROSIS gene, at least in part because the ELSI program was not yet established at the time of the gene`s discovery. Genetic studies on cancer were launched shortly after the discovery of several colorectal cancer genes and before the discovery of breast cancer genes. Anticipating such scientific discoveries allows these questions to be addressed in a timely manner before problems arise, not after they have already occurred. The formation of such research consortia is a practice that has recently been considered an effective means of achieving the above objectives. Genetic discrimination is also a priority of the National Breast Cancer Action Plan (NAPBC), a public-private partnership established to address breast cancer research, education and policy issues. Based on their common concerns, the ELSI working group and NAPBC jointly organized a workshop on genetic discrimination and health insurance on 11 July 1995. Based on the information presented at the workshop and subsequent discussions, the ELSI Working Group, NAPBC and NHGRI staff developed and published recommendations on protection against genetic discrimination. 4 The debate would lead to the formation of the NiH Recombinant DNA Advisory Committee (RAC), which was created to monitor and approve the safety of such experiments. FCAC continues to demonstrate the ability of science to act prudently in certain areas of research. But the CARs were not designed to monitor the use of information that would result from advances in molecular biology (i.e., genetic screening and testing), but only the research that would precede those advances. From the beginning, HGP planners recognized that mapping and sequencing the human genome would have profound implications for individuals, families, and society.

They wondered how this new genetic information should be interpreted and used, who should have access to it, and how best to protect people from potential harm. They expressed concern that information could be obtained that could lead to anxiety, stigma and discrimination, may not be treated confidentially, especially if the person receives the results of their research or testing, and may initially offer little hope for treatment or prevention. The report of the President`s Commission on Gene Therapy, Splicing Life (President`s Commission, 1983), served to trigger a potentially explosive discussion and thwart the legislation under consideration (Cook-Deegan, 1994). The report was released during a hearing before Albert Gore, Jr., then a member of the House of Representatives. The hearing focused on the implications of human genetics, particularly gene therapy.