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ELSI Research Domains

The NHGRI Division of Genomics and Society has identified the following three research domains 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 more than one domain.

Below each domain, broad research topic areas are listed. Dropdown tabs for each broad topic area contain some examples of specific issues within the area.  Please note that the research areas and specific issues listed here 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 also strongly encouraged to contact the ELSI Research Program Director 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 normative, conceptual and legal research; empirical research using either (or both) quantitative and qualitative methods and research that involves direct engagement with stakeholders.

Issues in Genomic Research

These projects may examine and address the ethical, legal, and social issues that arise in connection with the design and conduct of genetic and genomic research. 

Research areas of particular interest include: 
  • Diversity of Research Populations
    • Recruitment and retention of diverse populations (e.g., racial and ethnic minorities, sexual and gender minorities, individuals with disabilities)
    • Achieving representativeness in genomic and genetic research studies and mutation databases
    • Incorporation of race and ethnicity variables in genomics research (e.g., relationship between ancestral biomarkers and self-identified race and ethnicity; incorporation of SES and other non-biologic variables in genomic and genetic studies)
    • Perceptions of the relevance, risks and benefits of genomic and genetic research, and the importance of genomic and genetic research relative to other areas of medical research, across and within populations/communities 
    • Recognizing and addressing barriers, interests and viewpoints regarding participation in and engagement with genomic and genetic research
    • Role of trust and transparency in enhancing the diversity of the genomic and genetic research population
       
  • Informed Consent
    • Perceptions and understanding of risks and benefits of genomic and genetic research by research participants, researchers, and IRBs
    • Comprehension of informed consent in genomic and genetic studies
    • Abbreviated and simplified consent language
    • Cross-cultural consent issues
    • Approaches to informed consent models designed to respond to the changing research environment and to the need for longer-term outcome studies (e.g., broad consent, opt out, unmediated e-consent using patient portals, passive consent, social media consent)
    • Issues related to 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
       
  • Data Stewardship and Sharing
    • Public attitudes regarding the acceptability of data sharing, expectations regarding data security, and expectations regarding control over the use of individual data and samples
    • Governance of research data sharing and ownership; includes roles of funders, institutions, journals, participants, communities and citizen scientists.
    • Researcher attitudes and practices regarding genomic data sharing generally as well as specific data sharing policies.
    • Rights and responsibilities of secondary data users
    • Fairness in data sharing practices
    • Governance, use and sharing of cloud based data
       
  • Boundaries Between Research and Clinical Care
    • Ethical and legal issues related to the increasingly blurred boundary between genomic and genetic research and clinical care
    • Consent and education practices to ensure participants and patients understand the limitations associated with clinical research vs. clinical care
    • Approaches to convey the limitations associated with clinical research as opposed to clinical care
    • Considerations for genomic research at it becomes more clinically oriented
    • The role of secondary findings in the blurring of the research/care boundary
       
  • Participant Rights and Engagement
    • Community consultation and engagement, especially as applied to new participant-centered research models (e.g., crowdsourcing, Citizen Science)
    • Implications of research participants as stakeholders or partners, including potentially differing views of the rights and responsibilities of this role
    • Participant role in governance structures for research studies, genomic biobanks and repositories
    • Balancing the rights of parents and children in pediatric and family-based genomic studies
       
  • Re-identification, Security and Data Privacy
    • Potential identifiability of genomic information and approaches for minimizing identifiability risks
    • Use of tissue and health data from deceased individuals in genomic studies
    • Third-party risks of genomic research, including effects on family members and broader communities
    • Linking genomic and health-related data to other typically non-health data (e.g. MHealth or geospatial data)-- examination of participant preferences and perceptions of risk and benefit
    • Governance of research use of non-medical data (i.e. fitbits, smartphone data, social media postings) in biomedical/genomic studies
    • Privacy and security in the age of cloud computing for genomic data
    • Privacy and security in citizen science
    • Public tolerance for privacy risks
       
  • Return of Research Results and Secondary Findings
    • Management 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
    • Understanding of uncertain individual research results and secondary findings by participants and researchers
    • Handling by genomic researchers of somatic and inferred germline findings from tumor analysis
    • Consent and decision-making processes in the return of research results
    • Acceptability of not returning actionable results in research studies
       
  • Legal and Regulatory Issues in Research  
    • Challenges involved in harmonizing existing policies, laws and regulations (e.g., revised Common Rule, HIPAA, CLIA, FDA regulations)
    • Ownership and liability issues regarding secondary use of biological samples
    • Researcher responsibility and liability in decisions to return or withhold research results
    • Intellectual property issues (e.g., issues related to the development of open variant databases and proprietary mutation databases that restrict access to information about the pathogenicity of variants)
    • Policy issues arising in international genomic research collaborations

Issues in Genomic and Genetic Healthcare

Identifying, examining and addressing the challenges and implications of the use of genomic and genetic information in a variety of health care settings.

Research areas of particular interest include:
  • Clinical and Personal Utility of Genomic Health Information
    • Metrics to assess the utility of genomic information, including patient-centered measures
    • Return of information with low clinical utility but potential personal utility
    • Balance of individual rights to information and costs associated with interpreting, delivering, and acting on information with low clinical utility
       
  • Return, Communication and Use of Clinical Genomic Results and Secondary Findings
    • Defining the 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.)
    • Defining the rights and responsibilities of patients (e.g. Do patients have a right to raw data and/or variants of uncertain significance (VUS), to data on the reinterpretation of variants, and to coverage for related diseases and disorders.  What are patient responsibilities to other family members and to seek re-interpretation or other interpretation of variants)
    • Defining the roles and responsibilities of clinical laboratories in the analysis, interpretation (or re-interpretation) and delivery of genomic findings
    • Rights and responsibilities of family members, including in the context of non-traditional family structures and in diverse health care settings
    • Balancing the rights of children and parents in pediatric and family-based clinical settings
       
  • Precision Medicine and Genomics
    • Implications of changing roles and needs in the healthcare workforce (genetic counselors, bioinformaticians, laboratory directors, clinicians, and patients) as the implementation of genomic medicine expands
    • Incorporation of genomic medicine into preventive care
    • 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
       
  • Genomic Medicine and Health Disparities
    • Health care provider understanding of the role of self-identified race and ethnicity or of ancestral biomarker information in health care decision-making
    • 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
    • Impact of patient and provider perceptions of the role of ancestral biomarker information in health care decision-making
    • Interpretation of genetic ancestry information by health, life, disability, and long term care insurers and use of such information in coverage decisions
       
  • Economics of Genomic Medicine
    • Fairness in access to genetic and genomic services
    • Reimbursement for genomic health care services by third-party payers
    • Impact of genomic and genetic testing on treatment coverage decisions
    • Comparative cost-effectiveness of personalized genomic-based health care
    • Economic impact of family cascade testing
    • Approaches to assess the economics/cost-benefit ratio of potential complex multi-disease outcomes that result from clinical/diagnostic Whole Genome Sequencing
    • Economics of screening healthy populations to identify high-risk subpopulations
       
  • Rights and Responsibilities of Patients and Providers
    • Defining the 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.)
    • Defining the rights and responsibilities of patients (e.g. Do patients have a right to raw data and/or variants of uncertain significance (VUS), to data on the reinterpretation of variants, and to coverage for related diseases and disorders.  What are patient responsibilities to other family members and to seek re-interpretation or other interpretation of variants)
    • Defining the roles and responsibilities of clinical laboratories in the analysis, interpretation (or re-interpretation) and delivery of genomic findings
    • Rights and responsibilities of family members, including in the context of non-traditional family structures and in diverse health care settings
    • Balancing the rights of children and parents in pediatric and family-based clinical settings
       
  • Genomic Medicine in Diverse Healthcare Settings
    • Genomic testing in the preconception, preimplantation, and prenatal genomic settings (especially the use of non-invasive prenatal testing)
    • Genomic testing in newborn and pediatric settings
    • Delivery of genomic healthcare to diverse and potentially underserved patient populations (e.g., racial and ethnic minorities, sexual and gender minorities, individuals with disabilities)
    • Delivery of genomic medicine in healthcare settings with limited resources (community health clinics
       
  • Genomics and Public Health
    • Implications of changing roles and needs in the healthcare workforce (genetic counselors, bioinformaticians, laboratory directors, clinicians, and patients) as the implementation of genomic medicine expands
    • Incorporation of genomic medicine into preventive care
    • 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 Health Care
    • Challenges related to implementation of the 2017 revisions to the Common Rule
    • Liability issues related to the delivery of genomic medicine
    • FDA regulation of genomic tests and genomics-based therapies
    • Regulatory issues in direct-to-consumer genomic testing

Broader Legal, Policy and Societal Issues

These projects may examine and address a range of broader legal, policy and bioethical and societal issues raised by the use of genomic technologies and information in research, clinical or non-medical settings. 

Research areas of particular interest include: 
  • Genomic Equity and Social Justice
    • Causes and consequences of the current lack of representation of diverse populations in genomic research
    • Unequal access among diverse populations to genomic healthcare
    • 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
    • Fair distribution of benefits from genomic research
       
  • Non-Medical Uses of Genomics
    • Uses of genomic information, including behavioral genetics information, in contexts such as life, disability, long term care insurance, employment, the criminal justice system, immigration, family law, and tort litigation
    • Impact of GINA and other federal and state laws on genetic discrimination and on public perceptions regarding the risk of genetic discrimination
       
  • Genomics and Shifting Societal Definitions and Norms
    • Effects of increasing genomic knowledge on how health and disease are defined by individuals, health care providers, and the health care industry
    • Implications of increasing genomic knowledge, including behavioral genetics knowledge, for conceptions of normality and disability and for genetic stigmatization
    • Normative factors underlying concepts of risk and benefit, or clinical or personal utility, in genomic research and healthcare
    • Effects of evolving conceptions of a public "duty" to participate in genomic research 
       
  • The Role of Genetic Exceptionalism in Policy Development
    • Ways in which genomic and genetic information is like other types of biomedical information and ways in which it is unique
    • Manifestations of genetic exceptionalism in public attitudes and public policy
    • Developing and testing approaches and solutions when changes in genomic knowledge perpetuate the misleading and potentially negative impact of genetic exceptionalism 
  • Citizen Science & Consumer Genetics
    • Liability and regulatory issues in crowd sourced or DIY science
    • Impact of Citizen Science on traditional genomic research
    • Patient-driven medicine and societal conceptions of individual responsibility for health and wellness
    • Responsibilities of citizen participants to uninvolved family members and rights of family members and members of communities who wish to remain uninvolved
    • Conflict of interest issues in Citizen Science genomics research
    • Intellectual property issues in Citizen Science genomics research
       
  • 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)
    • Public perceptions and attitudes regarding the use of emerging technologies
    • Challenges related to differing approaches to the regulation and oversight of emerging genomic technologies internationally
       
  • Genomics and Conceptions of Human Identity and Origins
    • Effects of increasing genomic knowledge on how health and disease are defined by individuals, health care providers, and the health care industry
    • Implications of increasing genomic knowledge, including behavioral genetics knowledge, for conceptions of normality and disability and for genetic stigmatization
    • Normative factors underlying concepts of risk and benefit, or clinical or personal utility, in genomic research and healthcare
    • Effects of evolving conceptions of a public "duty" to participate in genomic research
       
  • The Effect of Genetic Determinism on Attitudes, Behaviors and Policy
    • 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
    • Developing and testing approaches and solutions when changes in genomic knowledge perpetuate the harmful effects of genetic determinism
       

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Last Updated: June 21, 2017