See Also: ELSI Planning and Evaluation History On Other Sites: A Decade of ELSI Research from Science

Ethical, Legal and Social Implications Research Program

The scientific effort to map and sequence the human genome has provided the tools to find genetic alterations that make some families and individuals more likely to get certain diseases, such as cancer, diabetes or Alzheimer's disease. The effort also offers millions of people the prospect one day of having treatments individually designed to help them prevent or treat their disease.

While these advances can profoundly improve the state of human health, they also raise a number of complex and often controversial ethical, legal and social issues. What should people know before having a genetic test? Who will have access to the information the test generates? How will that information be used? Who owns the genetic information stored in each individual's DNA? What is genetic discrimination?

The scientists and others involved in the publicly funded effort to map and sequence all human genes, known officially as the Human Genome Project (HGP), have long recognized the need to address those and similar questions. From the beginning, the National Human Genome Research Institute (NHGRI) and the Department of Energy (DOE) - the two leading government agencies in the HGP - agreed to commit a portion of their research budgets to studying the ethical, legal and social implications of genetic research.

The Ethical, Legal and Social Implications (ELSI) Program at NHGRI focuses its activities in four high-priority areas: 1) the use and interpretation of genetic information; 2) the clinical integration of genetic technologies; 3) issues surrounding genetics research; and 4) public and professional education and training about these issues.

The ELSI Program has gathered information and offered recommendations on how our health care system might best offer genetic services, such as counseling and testing. It has explored emerging issues, such as informed consent in genetics research, and examined questions of genetic privacy, genetic discrimination and genetic determinism. The ELSI program has helped formulate options to guide scientists, policy makers and others about ethical, legal and social issues.

The ELSI Research Program at NHGRI is a component of the institute's Division of Genomics and Soceity (DGSO), which supports research conducted by scientists and physicians who work in universities, medical centers, hospitals and other research facilities outside the National Institutes of Health (NIH). NHGRI also has relied on groups of outside advisors for guidance - originally the ELSI Research Planning and Evaluation Group (ERPEG) and, more recently, the ELSI Research Advisors (ERA).

The Division of of Policy, Communications and Education at NHGRI helps to translate ELSI research findings into policy recommendations, while the Bioethics Research Section of NHGRI's Division of Intramural Research (DIR) studies ethical issues and coordinates review of intramural researchers' practices.

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ELSI Research Program

The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research. ELSI seeks to inform the development of policies and programs to address those implications, in order to maximize the benefits of scientific research while minimizing the potential for social, personal or psychological harm. The ELSI program does this by funding research, education and conferences nationwide. Established in 1990, the ELSI Research Program is currently the largest supporter of medical ethics research in the federal government.

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Division of Policy, Communications and Education

The Division of Policy, Communications and Education (DPCE) at NHGRI provides the institute's director with analysis of legislation and policy issues, supports education efforts to inform the public and policy-makers about genetic research and the issues it raises, and offers policy recommendations to address those issues.

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Social and Behavioral Research Branch

NHGRI scientists are leaders in applying the tools of genetics research to the understanding and treatment of human disease. Thus, NHGRI offers an ideal setting to explore the ethical, legal and social issues arising from the use of DNA-based technologies in the conduct of research. The Social and Behavioral Research Branch serves as the focal point for intramural research into ELSI-related issues.

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Priority Research and Accomplishments

The genetic makeup of each individual is unique. It provides a powerful source of information about our very selves. Studies of the ethical, legal and social implications of genetic research have attempted to identify and address the public's growing concerns over how that information should be interpreted, used and disseminated. Of particular concern have been issues of potential genetic discrimination in employment, insurance and other areas.

Accomplishments
  • ELSI Working Group publishes a report in 1993 on genetic discrimination and health insurance. The report, titled "Genetic Information and Health Insurance" recommends that people be eligible for health insurance no matter what is known about their past, present or future health status based on genetic information.
     
  • The National Academy of Sciences/Institute of Medicine (NAS/IOM) publishes a report titled, "Assessing Genetic Risks: Implications for Health Policy," with support from the ELSI program.
     
  • ELSI Working Group and the National Action Plan on Breast Cancer issues policy recommendations in 1995 to prevent genetic discrimination in health insurance.
     
  • The ELSI Research Planning and Evaluation Group (ERPEG) establishes five research goals for the ELSI program and publishes them in the October 1998 issue of Science magazine.
     
  • The joint ELSI programs of NHGRI and DOE sponsor a conference, "A Decade of ELSI Research," to reflect on the past, present and future of research on the ethical, legal and social implications of the HGP.
     
  • From 1999 to 2001 alone, the ELSI program devoted more than $86 million to support some 235 research and education projects and conferences. Another 25 workshops, conferences and related activities - focused on translating ELSI research into clinical and public health practices - were also supported. These ELSI-funded projects have resulted in more than 550 peer-reviewed journal articles, books, newsletters, Web sites and television and radio programs.
     
  • Cancer Genetic Studies Consortium:
    • Burke, W., G. Petersen, P. Lynch et al. "Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: I. Hereditary NonPolyposis Colon Cancer." JAMA, March 19, 1997: 277(11); 915-919. [PubMed]
       
    • Burke, W., G. Petersen, P. Lynch et al. "Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: II. BRCA1 and BRCA2." JAMA, March 26, 1997: 277(12); 997-1003. [PubMed]

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Last Updated: March 11, 2014