ELSI Research Priorities

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

ELSI Research Priorities and Possible Research Topics

The new NHGRI Strategic Plan, Charting a course for genomic medicine from base pairs to bedside PDF file includes a section on Genomics and Society that outlines four areas that will need to be addressed as genomic science and medicine move forward. Based on these areas, the NHGRI has identified the following broad research priorities. Each priority is accompanied by a list of examples of possible research topics.

Genomic Research

Genomic research studies frequently involve human participants who provide samples--and frequently detailed, personal health information-with the understanding that: (1) the study of their samples (and, where relevant, their personal health information) may generate an enormous amount of data-including information relevant to their genetic risk for a broad range of traits or disorders; (2) those data (and, where relevant, the health information) will, in many cases, be broadly shared-including with as-yet-unknown secondary data users in unspecified places; and (3) the samples and data may continue to be used for many years into the future-perhaps even indefinitely.

In the context of earlier, more traditional, and more circumscribed genetics studies, the benefits and risks of the research could for the most part be framed and handled through a relatively routine informed consent process accompanied by discrete policy reforms (such as changes in guidelines published by the Office of Human Research Protections (OHRP) or the recent enactment of a law prohibiting genetic discrimination in a particular setting). Such approaches to participant protection, however, have not always been adequate for genomic studies, which can be significantly more complex. Thus, it is necessary to develop, implement, evaluate, and continuously refine innovative mechanisms and policies that continue to recognize participants' interests in the privacy, disposition and use of the data, while simultaneously obtaining the scientific advantages that come from broad access to genomic research data.

Some specific examples of topics related to genomic research in which further ELSI research is needed include, but are not limited to:

Genomic Health Care

The availability of personalized genomic information, coupled with rapid changes in how health information is collected, stored, accessed, transferred, and used, promises to revolutionize health care. In order to fully realize this potential, genome-based health interventions that take advantage of advances in information and knowledge, as well as advances in communication technologies, must be developed. To ensure that these new interventions are safe and effective, their impact on individuals, their families, their communities and society more generally must be addressed and understood.

Some specific examples of topics related to genomic health care in which further ELSI research is needed include, but are not limited to:

Broader Societal Issues

The ongoing evolution of genomic research and health care requires a continuing analysis of the normative underpinnings of beliefs, practices and policies regarding research, health and disease. In addition, as personal genomic information permeates many aspects of society, it will have profound implications for how we understand ourselves as individuals and as members of families, communities, and society--and even for how we understand what it means to be human. Long-held beliefs about the continuum between health and disease may be transformed, as will concepts of free will and responsibility. These conceptual shifts may have implications for current approaches to research, health and social policies, and will require both careful study and the development of practical mechanisms to translate the findings of these studies into language and formats that are relevant and useful to those involved in the development and implementation of these policies.

Some specific examples of topics in this area in which further ELSI research is needed include, but are not limited to:

Legal, Regulatory and Public Policy Issues

New legal and regulatory approaches need to be crafted in anticipation of or in response to rapid developments in genomic research and genomic health care. These approaches will need to be sensitive to the ways in which new genomic technologies and information are integrated into society. They also will have to adapt to the challenges inherent in attempts to maintain confidentiality and privacy in a new era of genomic information coupled with revolutionary changes in information technology. In addition, policy-makers will need to revisit the issues of autonomy and ownership that are evolving as society changes. Research will be needed to explore the effects of existing policies and regulations and to provide data to inform the development of new policies and regulatory approaches.

Some specific examples of topics in this area in which further ELSI research is needed include, but are not limited to:

The research areas and possible research questions described above should be seen as a general guide to areas of interest, but should not be seen as a comprehensive list of all possible research topics. As genomic research advances and the interpretation and use of genomic information continues to evolve, applicants are encouraged to identify additional topics and issues ripe for research. In addition, many of the listed topics are relevant to the design and implementation of genomic research studies and may be appropriately examined in conjunction with a variety of planned or ongoing genomic research projects. Potential applicants are encouraged to explore possible collaborations with genomic and other biological researchers who are integrating genomics into their research and also to explore other relevant funding opportunities developed by NHGRI or by other NIH institutes.

The NHGRI is interested in research projects that address the Ethical, Legal, and Social Implications of genomic research and genomic medicine across a broad spectrum of diseases and conditions, and in projects that are developing new tools or general approaches that can be broadly applied across a range of diseases and conditions. Applicants that propose projects that are "disease-specific" -except to the extent that the diseases are being used as models with more general applicability--are encouraged to contact the relevant NIH institutes to explore the possibility of submitting an application. A number of NIH institutes are participating in the ELSI program announcements, including NCI, NIA, NICHD, NIDCD, NIEHS, and NINDS. A list of individual institute contacts is available in each ELSI program announcement.

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Last Updated: July 18, 2011