ELSI Research Program

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:
  • consent processes, including approaches to participant engagement, recruitment and retention that respond to the changing research environment and to the need for longer term outcomes studies
  • the use of cell lines, samples, or data from existing biobanks or data repositories that have not been consented for genomic research or broad data sharing
  • the growing use of broad consent methods
  • issues related to new participant-centered research models (e.g. Citizen Science, Patients Like Me)
  • community consultation and engagement, especially as applied to new research models 
  • the notion of a public duty to participate in research when one's genome is sequenced
  • issues related to the blurring of the lines between research and clinical genomics
  • issues related to the development of open variant databases and proprietary databases
  • perceptions and understanding of risks and benefits of genomic research by the public, research participants, researchers, and IRBs
  • issues relating to the return of individual research findings and incidental findings and somatic and inferred germline findings from tumor analysis
  • privacy and identifiability of genomic information
  • data sharing and data security
  • individual control of data and samples
  • governance structures for genomic repositories
  • balancing the rights of children and parents in pediatric and family-based genomic research
  • fair distribution of benefits from genomic 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
  • relationship between ancestral biomarkers and self-identified race and ethnicity and incorporation of race and ethnicity variables in genomic research

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:
  • fairness in access to and reimbursement for genomic and genetic services, 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
  • developing metrics to assess the utility of applications of genomics including patient-centered measures of satisfaction in multifaceted outcomes
  • issues in informed consent for genome-based health care, particularly consent for the return of complex results
  • issues surrounding the inclusion of genomic information in Electronic Health Records (HER) and Personal Health Records (PHR)
  • the implications of developing standardized lists of genes to be returned (or not) to all patients receiving genomic testing
  • the role of genomics in preventive care
  • communication of genomic information and test results in clinical settings
  • issues surrounding the use of pharmacogenomics and other genomics-based therapies
  • issues related to the development of open variant databases and proprietary databases
  • issues in preconception, preimplantation and prenatal genomic testing - particularly the use of non-invasive prenatal genetic testing
  • 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
  • changing roles and needs in the healthcare workforce (genetic counselors, bioinformaticians, lab directors, clinicians and patient/consumers) as genomic medicine is implemented
  • the impact of genetic/genomic testing on treatment coverage decisions
  • issues surrounding clinical findings involving pleiotropic genes

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:
  • 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 and its implications for research and health care practice
  • 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 genetic ancestry testing for understanding identity, race and ethnicity, and relationships within and among human populations
  • implications of advances in knowledge 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, particularly as individuals increasingly learn critical details about their personal genetic makeup
  • 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, including the status of patents following the Myriad Genetics decision and the development of proprietary mutation databases that may restrict access to information about the pathogenicity of variants
  • appropriate regulation of genetic testing, direct-to-consumer genetic test marketing, pharmacogenomics and genomics-based therapies
  • policy issues arising in international collaborations
  • ownership and liability issues surrounding the secondary use of biobanked samples
  • impact of the Genetic Information Nondiscrimination Act (GINA)  (e.g. the application and effectiveness of GINA to prevent or correct genetic insurance and employment discrimination and the effect of GINA on public perception about risks of discrimination)
  • use of genetic information by life, disability and long term care insurance companies, including determination of actuarial risk, incidence of adverse selection or discrimination and resulting harms, public concern regarding discrimination, and the impact of state laws.
  • 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 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

  • Studies on the anticipated and actual psycho-social and behavioral impact of genetic and genomic information on affected individuals, their families, and populations
  • Studies on the ethical, regulatory, and policy challenges in cancer research involving genetic and genomic information (e.g. clinical oncology trials, population-based studies, observational studies, etc.), including research on innovative approaches to those challenges
  • Studies on the issues raised by the collection, storage, and future research uses of biological samples and of associated data (e.g. participant preferences, informed consent, governance, privacy and security, and data sharing), including innovative approaches to these issues
  • Studies that take into consideration the perspectives of diverse racial, ethnic and socioeconomic backgrounds, as well as children, older adults and people with disabilities
  • Studies on models of participant and community engagement or participatory research methods in cancer research

NIAID

  • Research on confidentiality, privacy, identifiability, risk of individual or group stigma or social harm, consent, permission, or other ethical issues in research on human genetic determinants of infectious disease transmission, in the US or in international settings.
  • Research on stakeholder views (including IRB or ethics committees, community members, and others) or community consultation regarding genetics or genomics information derived from research on infectious disease, allergy, autoimmune disorders, or transplantation.
  • Research on normative and empirical questions related to return of research results in genetics research in resource-limited settings.
  • Research on ethical issues in human genetic factors in transplantation
  • Research on ethical aspects of genetic research in allergy and autoimmune disorders

NIDA

  • Examine and address the issues that arise in the design and conduct of epigenomic research, particularly research that involves the production, analysis and broad sharing of individual epigenomic information that is frequently coupled with detailed health information.  Certain environmental exposures (e.g. diet, drugs of abuse, toxins) have been associated with specific epigenomic changes in animal studies.   Epigenomic data could therefore theoretically yield information about an individual's environmental exposures that would not be captured by genomic datasets. 
  • Potential ethical issues in drug abuse research associated with new and/or evolving scientific areas (e.g., personalized medicine, biomarkers) and technologies (e.g., internet delivered therapies, automated assessment strategies).
  • How might findings of genetic contributions for drug use disorders exacerbate or ameliorate stigma associated with drug addiction and dependency
  • Are there policy implications for persons who may have heritable risk for drug use disorders
  • How might genetic information about drug use disorders be integrated into treatment interventions
  • Establishment of best practices for management of pharmacogenomic profiles generated from DNA chip-based resources, and their impact on public health

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: September 18, 2014