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 NHGRI Strategic Plan, Charting a course for genomic medicine from base pairs to bedside PDF fileincludes 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

Increasingly, genomic research studies involve human participants who provide samples - and 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, for unspecified purposes; and (3) the samples and data may continue to be used for many years into the future - perhaps even indefinitely. Many existing sample and data repositories contain valuable research samples and data that were collected before informed consent processes addressed genomics and broad data sharing.

Genomics research presents evolving challenges such as issues relating to the potential identifiability of genomic information, new or anticipated changes to local, federal, and international research policies, the need for large, diverse research populations that can be followed longitudinally, and the influence of new research models, like patient-centered outcomes research and Citizen Science, that are creating new paradigms for the roles and responsibilities of research participants and researchers. Given these factors, it is essential to develop, implement, evaluate, and refine new approaches, mechanisms and policies that recognize participants' interests in the privacy, disposition and use of the genomic and medical data, while simultaneously enabling broad access to these data to facilitate scientific discovery.

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 growing use of genomic information in the clinical setting, coupled with rapid changes in how health information is collected, stored, accessed, transferred, and used, has the potential to revolutionize health care. In order to fully realize this potential, genome-based health interventions that take advantage of advances in 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 begins to permeate many aspects of our lives, it has 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 may concepts of free will and responsibility. These conceptual shifts have implications for current approaches to research, health and social 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 and will be updated as new issues arise.  They should not be understood as a comprehensive or static 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 researchers 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 that addresses the ethical, legal, and social implications of genomic research and genomic health care across a broad spectrum of diseases and conditions. This includes basic research and the development of tools that can be applied across many different diseases and conditions.  In addition to the NHGRI, several other NIH Institutes and Centers welcome applications that address ELSI issues that are relevant to their specific institutional missions.  These participating organizations include the National Cancer Institute (NCI), National Institute on Aging (NIA), National Institute of Allergy and Infectious Diseases (NIAID), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute on Deafness and Other Communication Disorders (NIDCD), National Institute on Drug Abuse (NIDA), National Institute of Environmental Health Sciences (NIEHS) and the Fogarty International Center (FIC). 

Below are some examples of topics identified by three of these institutes as being of specific programmatic interest:

NCI

NIAID

NIDA

For additional information on these and other topics of potential interest to participating NIH Institutes and Centers, please contact the appropriate program official listed in the relevant program announcement: ELSI Regular Research Program (R01), ELSI Small Research Grant Program (R03), ELSI Exploratory/Developmental Research Program (R21)

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Last Updated: July 21, 2014