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ELSI Research Domains

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The NHGRI Division of Genomics and Society has identified three research domains, listed below, to be considered for support by the Ethical, Legal and Social Implications (ELSI) Research Program. The domains are overlapping, and it is anticipated that many research projects will address issues that cut across domains.

Broad research topic areas are listed immediately below each domain. Each broad topic area is followed by a list of examples of specific issues within that area.

The order in which the research topic areas are listed does not indicate relative priority.  In addition, the research areas and specific issues listed should not be viewed as exhaustive. Applicants are encouraged to identify and propose to address new and emerging issues as the field evolves. 

Applicants are strongly encouraged to contact the NIH Program Officer responsible for the area most closely related to the subject matter of their proposed research before developing an application. This will help to ensure that the specific topic being considered is of current interest to the program.

The ELSI Research Program welcomes proposals from a broad range of disciplines. Applications may propose the use of a wide range of methodologies and approaches, including but not limited to normative, conceptual and legal research; empirical research using either (or both) quantitative and qualitative methods; and research that involves direct engagement with stakeholders.

A number of NIH Institutes and Centers (IC) are interested in supporting ELSI research and are participating in one or more of the three ELSI Program Announcements.  Information on IC specific research interests and contact information for program officers is available here.

Participating NIH Institutes and Centers Research Interest Statements and Contacts

 

ELSI Research Domain Areas and Examples of Specific Issues 

Genetic and Genomic Research

Identifying, documenting and developing approaches to address the many challenges related to genetic and genomic research.  Examples of specific topics of interest include:

  • Boundary Between Research and Clinical Care
    • Approaches to ensuring participants and patients understand the limitations of clinical research as distinct from clinical care
    • Ethical and legal issues related to the increasingly blurred boundary between genetic and genomic research and clinical care
    • The role of secondary findings in blurring the boundary between research and clinical care
       
  • Data Stewardship and Sharing
    • Fairness in genomic data sharing practices
    • Governance, use and sharing of cloud based data
    • Rights and responsibilities of secondary users of genomic data
    • Roles of funders, institutions, journals, participants, communities and citizen scientists in governance of research data sharing and ownership
    • Stakeholder attitudes and practices regarding the data sharing, data security, and participant control over the use of individual data and samples
       
  • Inclusion of Diverse Populations in Genetic and Genomic Research
    • Achieving representativeness in genetic and genomic studies and mutation databases
    • Incorporation of race and ethnicity variables in genomic research (e.g., relationship between ancestral biomarkers and self-identified race and ethnicity; incorporation of SES and other non-biologic variables in genetic and genomic studies)
    • Perceptions of the relevance, risks and benefits of genetic and genomic research, and the importance of genetic and genomic research relative to other areas of biomedical research, across and within populations or communities 
    • Recognizing and addressing barriers, interests and viewpoints regarding participation in and engagement with genetic and genomic research
    • Recruitment and retention of diverse populations (e.g., racial and ethnic minorities, sexual and gender minorities, individuals with disabilities)
    • Role of trust and transparency in enhancing the diversity of participants in genetic and genomic research 
       
  • Informed Consent
    • Comparisons of abbreviated and simplified consent language
    • Cross-cultural consent issues
    • Impact of consent on perceptions and understanding of risks and benefits of genetic and genomic research by research participants, researchers, and IRBs
    • Innovative and evolving approaches to informed consent (e.g., broad consent, opt out, unmediated e-consent using patient portals, passive consent, social media consent)
    • Issues related to the use of stored cell lines, samples, or data in studies where participants have not consented to genomic research or data sharing 
       
  • Legal, Regulatory and Policy Issues in Genomic Research
    • Challenges involved in harmonizing existing policies, laws and regulations (e.g., revised Common Rule, HIPAA, CLIA, FDA regulations)
    • Intellectual property issues (e.g., the development of open variant databases and proprietary mutation databases that restrict access to information about the pathogenicity of variants)
    • Issues arising in international genomic research collaborations
    • Ownership and liability issues regarding the secondary use of genomic samples
    • Researcher responsibility and liability in decisions to return or withhold genomic research results 
       
  • Participant Rights and Engagement
    • Balancing the rights and interests of parents and children in pediatric and family-based genomic studies
    • Implications of research participants as scientific collaborators or partners, including potentially differing views of the rights and responsibilities of this role
    • Issues related to community consultation and engagement, especially as applied to new participant-centered research models (e.g., crowdsourcing, Citizen Science)
    • Role of participants in governance structures for genomic studies, genomic biobanks and repositories
       
  • Re-identification, Security and Data Privacy
    • Governance of research use of non-medical data (i.e. fitbits, smartphone data, social media postings) in in genomic studies
    • Linking genomic and health-related data to other (typically non-health) data (e.g. MHealth or geospatial data)
    • Potential identifiability of genomic information and approaches for minimizing re-identification
    • Privacy and security of genomic data in the cloud computing environment
    • Privacy and security issues in genomic citizen science research
    • Public tolerance for genomic privacy risks
    • Risks of genomic research to third parties including family members and broader communities
    • Use of tissue and health data from deceased individuals in genomic studies 
       
  • Return of Genomic Research Results and Secondary Findings
    • Acceptability of not returning actionable results in genomic studies
    • Approaches to returning somatic and inferred germline findings from tumor analysis in research studies
    • Consent and decision-making processes related to the return of genomic research results
    • Management and understanding of uncertain individual research results and secondary findings
    • Roles and responsibilities of researchers, laboratories and participants in the re-interpretation of variant pathogenicity in research settings 

Genetic and Genomic Healthcare

Identifying, examining and addressing the many challenges and implications of the use of genetic and genomic information in a variety of health care settings.  Examples of specific topics of interest include:

  • Clinical and Personal Utility of Genomic Health Information
    • Balance of individual rights to information and costs associated with interpreting, delivering, and acting on information
    • Challenges related to the return of information with low clinical utility but potential personal utility
    • Metrics to assess the utility of genomic information, including patient-centered measures
       
  • Economics of Genomic Medicine
    • Approaches to assess the economics/cost-benefit ratio of potential complex multi-disease outcomes that result from clinical/diagnostic whole genome sequencing
    • Comparative cost-effectiveness of personalized genomic-based health care
    • Economic impact of family cascade testing
    • Economics of screening healthy populations to identify high-risk subpopulations
    • Fairness in access to genetic and genomic services Impact of genomic and genetic testing on treatment coverage decisions
    • Reimbursement for genomic health care services by third-party payers 
       
  • Genomic Medicine and Health Disparities
    • Developing and testing approaches to deliver genomic healthcare to diverse and underserved patient populations
    • Effects of the use of self-identified race and ethnicity or of ancestral biomarker information in decision-making regarding predictive testing and screening, diagnosis, and treatment
    • Health care provider understanding and patient perceptions of the role of self-identified race and ethnicity or of ancestral biomarker information in healthcare decision-making
    • Impact of increasing genomic knowledge and use of genomic medicine on reduction in or exacerbation of existing health disparities
    • Implications of potentially unequal access to genetic and genomic healthcare services
    • Interpretation of genetic ancestry information by health, life, disability, and long term care insurers and use of such information in coverage decisions
       
  • Genomic Medicine in Diverse Healthcare Settings
    • Implications of genomic testing in the preconception, preimplantation, and prenatal genomic settings (especially the use of non-invasive prenatal testing)
    • Implications of genomic testing in newborn and pediatric settings
    • Issues and challenges related to the delivery of genomic healthcare to diverse and potentially underserved patient populations (e.g., racial and ethnic minorities, sexual and gender minorities, individuals with disabilities)
    • Issues and challenges related to the delivery of genomic medicine in healthcare settings with limited resources (community health clinics, primary care practices, etc.) 
       
  • Genomics and Public Health
    • Implications of changing roles and needs in the genetic and genomic healthcare workforce (genetic counselors, bioinformaticians, laboratory directors, clinicians, and patients) as the implementation of genomic medicine expands
    • Implications of the incorporation of genomic medicine into preventive care
    • Implications of the possible widespread use of population-based genomic screening for diagnosis, prevention and treatment of both rare and common complex diseases
    • Interplay of precision medicine and public health approaches to medical genomics
       
  • Legal and Regulatory Issues in Genomic Healthcare
    • Challenges related to implementation of the 2017 revisions to the Common Rule
    • FDA regulation of genomic tests and genomics-based therapies
    • Liability issues related to the delivery of genomic medicine
    • Regulatory issues in direct-to-consumer genomic testing
       
  • Precision Medicine and Genomics
    • Differing conceptions and expectations of "precision medicine" by clinicians, patients and the general-public
    • Interplay between precision medicine guided recommendations and the preferences of patients, caregivers and payers.
    • Linking genomic and health-related data to other (typically non-health) data (e.g. MHealth or geospatial data), including examination of patient preferences and perceptions of risk and benefit
       
  • Return, Communication and Use of Genomic Test Results and Secondary Findings
    • ELSI issues related to communicating genomic test results that involve pleiotropic genes
    • ELSI issues related to communicating the relationship between ancestral biomarkers and self-identified race and ethnicity when returning genomic test results
    • ELSI issues related to communication of uncertainty regarding genomic test results ELSI issues related to informed consent for genomic testing involving the return of potentially complex results
    • ELSI issues related to reinterpretation or pathogenicity reclassification of genomic test results over time
    • Impact of returning genomic test results on patients' health behaviors and outcomes
    • Impact of alternative approaches to traditional in-person genetic counseling
    • Implications of developing standardized lists of genes to be returned (or not) to all patients receiving genomic testing
    • Implications of inclusion of genomic test information in Electronic Health Records (EHRs) and Personal Health Records (PHRs)
       
  • Rights and Responsibilities of Patients, Laboratories and Providers
    • Balancing the rights of children and parents in pediatric and family-based clinical settings
    • Rights and responsibilities of clinicians in genetic and genomic healthcare (e.g. interpretation of findings, potential reinterpretation, referrals by non-genetic experts; contacting at risk family members, etc.)
    • Rights of patients in genetic and genomic healthcare (e.g. right to raw data and/or variants of uncertain significance (VUS), to data on the reinterpretation of variants, coverage for related diseases and disorders; etc.)
    • Rights to privacy and responsibilities of patients to other family members, including in the context of non-traditional family structures and diverse health care settings
    • Roles and responsibilities of clinical laboratories in the analysis, interpretation (or re-interpretation) and delivery of genomic findings 

Broader Legal, Policy and Societal Implications

Anticipating, exploring and developing tools and approaches to address the broader societal implications and the legal and policy issues raised by the use of genomics in research, medical and non-medical settings.  Examples of topics of particular interest include:

  • Citizen Science & Consumer Genetics
    • Conflict of interest issues in citizen science genomics research
    • Intellectual property issues in citizen science genomics research
    • Impact of the Citizen Science movement on traditional genomic research
    • Implications of patient-driven medicine and societal conceptions of individual responsibility for health and wellness
    • Liability and regulatory issues in crowd sourced or DIY genomic science
    • Responsibilities of participants in genomic citizen science studies to family members or members of communities who do not wish to be involved
       
  • Downstream Implications of Emerging Genomic Technologies
    • Efficacy of existing oversight mechanisms for emerging genomic technologies (e.g. heritable and non-heritable germline editing, synthesizing human genomes)
    • Issues and challenges related to differing approaches to the regulation and oversight of emerging genomic technologies internationally
    • Public and stakeholder perceptions and attitudes regarding emerging genomic technologies
       
  • Genetic Determinism and its Effects on Attitudes, Beliefs and Policy
    • Developing and testing of approaches or solutions to the potential perpetuation of the harmful effects of genetic determinism based on increasing genomic knowledge
    • Implications of increasing genomic knowledge, including behavioral genetics knowledge, for conceptions of free will and personal responsibility
    • Manifestations of conceptions related to genetic determinism in public attitudes, actions and policies 
       
  • Genomic Equity and Social Justice
    • Causes and consequences of the current lack of representation of diverse populations in genomic research
    • Fair distribution of benefits from genomic research
    • Impact of increasing genomic knowledge and use of genomic medicine on reduction in or exacerbation of existing health disparities
    • Impact of existing intellectual property laws and policies on access to genetic and genomic technologies
    • Unequal access among diverse populations to genomic healthcare
       
  • Genomics and Conceptions of Human Identity and Origins
    • Developing and testing approaches to address the potential perpetuation or strengthening of negative or divisive concepts and beliefs regarding individual, family and community identity or origins based on increasing genomic knowledge
    • Effects of increasing genomic knowledge on definitions of family and community
    • Effects of increasing genomic knowledge on how individuals and society understand race, ethnicity, and ancestry
    • Effects of increasing genomic knowledge on how the relationships among humans, and between humans and non-humans are understood
    • Manifestations of the effects of genomics on public and stakeholder beliefs, attitudes, actions and policies
       
  • Genomics and Shifting Societal Definitions, Beliefs, and Norms
    • Effects of increasing genomic knowledge on how health and disease are defined by individuals, health care providers, and the health care industry
    • Evolving conceptions of a public "duty" to participate in genomic research
    • Implications of increasing genomic knowledge, including behavioral genetics knowledge, for conceptions of normality, disability, and genetic stigmatization
    • Normative factors underlying concepts of risk and benefit, or clinical or personal utility, in genomic research and healthcare 
       
  • Non-Medical Uses of Genomic Information
    • Impact of GINA and other federal and state laws on genetic discrimination and on public perceptions regarding the risk of genetic discrimination
    • Issues related to the marketing and use of direct-to-consumer genomic ancestry tests
    • Use of genetic and genomic information in the criminal justice system for purposes of identification
    • Use of genetic and genomic information (including behavioral genetics information) for purposes of determining criminal responsibility or in sentencing
    • Uses of genetic and genomic information in employee wellness programs and other employment contexts
    • Uses of genetic and genomic information in life, disability, and long term care insurance
    • Use of genetic and genomic information in tort litigation
    • Use of genetic and genomic information (including behavioral genetics information) in other civil litigation contexts (e.g., immigration, education, family law) 
       
  • The Role of Genetic Exceptionalism in Policy Development
    • Clarification of the ways in which genetic and genomic information is similar to other types of biomedical information and the ways in which it is unique
    • Developing and testing approaches to mitigate misleading and potentially negative impacts of genetic exceptionalism in the era of increasing genomic knowledge
    • Manifestations of genetic exceptionalism in public attitudes and public policy 
 

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Last Updated: July 10, 2017