ELSI Research Priorities and Possible Research Topics

The new NHGRI Strategic Plan, Charting a course for genomic medicine from base pairs to bedside 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:

• recruitment issues (including diversity in research participation)
• perceptions of risks and benefits by the public, research participants, researchers, and IRBs
• issues in informed consent in genomic research (including unexpected results or results in which there are no interventions to offer)
• return of individual research findings (including incidental findings)
• privacy and identifiability of genomic information
• data sharing and data security
• governance structures for genomic repositories (including treatment of archived samples, such as newborn bloodspots)
• compensation to sample and data providers
• fair distribution of benefits from research
• third-party benefits and risks of genomic research (including effects on family members and broader communities)
• use of tissue and health data from deceased individuals in genomic research;
• role of community consultation and engagement
• relationship between ancestral biomarkers and self-identified race and ethnicity and incorporation of these variables in genomic research

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:

• fairness in the distribution of genomic and genetic services (access and reimbursement issues, including issues relating to insurance and other third party payers)
• assessment and evaluation of personalized genomic-based health care in terms of general effectiveness and comparative cost-effectiveness
• issues in informed consent as related to genomically-based health care (including unexpected results or results in which there are no interventions to offer)
• issues surrounding the potential inclusion of genomic information in Electronic Health Records and Personal Health Records
• communication of genomic information and test results in clinical settings
• issues surrounding the use of pharmacogenomics and other genomics-based therapies, including reimbursement
• issues in preimplantation and prenatal genomic diagnosis and other genomically-based reproductive technologies
• understanding the contribution of genomic, psychosocial and cultural factors that may have a role in health disparities
• communication of the relationship between ancestral biomarkers and self-identified race and ethnicity to individuals and families receiving genomically-based clinical test results

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:

• normative factors underlying concepts of risk and benefit in genomic research and health care
• ethical implications of the blurring of the distinction between genomic research and genomics-based health care
• ethical issues relevant to genomic research and genomic health care involving special populations (e.g., newborns and children, people with disabilities, pregnant women, deceased individuals)
• implications of increasing genomic knowledge for how health and disease are conceptualized by individuals, health care providers and the health care industry
• implications of genomic variation research (and of genetic ancestry testing) for understanding identity, race and ethnicity, and relationships within and among human populations
• implications of learning more about epigenomics and the human microbiome for concepts of human identity, personhood, health and disease
• implications of comparative genomic research and evidence of natural selection among human populations for understanding the relationships among humans, and between humans and non-humans, and the intersection of genomic knowledge with existing beliefs about evolution and human origins
• implications of manifestations of genetic determinism, reductionism, essentialism, and exceptionalism in public attitudes and in public policy
• implications of genomic information for understandings of free will and individual responsibility

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:

• intellectual property issues (status of patents and patenting covering genomic sequences, associations, and tests; effects of gene patenting and licensing on the development of genomic medicine)
• appropriate regulation of genetic testing (including direct-to-consumer genetic test marketing), pharmacogenomics and genomics-based therapies
• ownership and liability issues surrounding the secondary use of biobanked samples
• genetic discrimination and stigmatization (including the impact of GINA)
• non-medical uses of genomics in non-health care settings (e.g., criminal and civil courts; employment; schools; the military)

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