Click on the research areas and subcategories for additional information.
Program Contact: Rene Sterling
Program Contact: Nicole Lockhart
Program Contact: Dave Kaufman
Genomics and Sociocultural Structures and Values
This area of ELSI research examines the foundational personal, social and culturally defined concepts and values that affect how genomic information is understood and used by individuals, families and sociocultural groups. It explores the impact of the increased availability and use of genomic information on beliefs about the essential or deterministic nature of genomic findings, and how consideration of the social and physical environments affects these beliefs. This research area also sheds light on the social and cultural forces that shape the promulgation, understanding and use of genomic information to mitigate or reinforce social and healthcare inequities. Projects may examine historical movements and events that have influenced, or been influenced by, values associated with genetics and genomics. How those values change over time and shape the design and execution of genomic research and medicine is also of interest. Concepts such as race, gender, disability, literacy and class can influence how genomic information is generated, communicated, interpreted and used. This area of research is interested in how these concepts are defined, are used, evolve over time, and have an impact on the generation of genomic information; and how the generation of genomic information interacts with long-held beliefs and traditions, thereby shaping personal choices and behaviors in a variety of settings.
Genomics and the Physical and Social Environments
How belief in the essential or deterministic nature of genomic findings is influenced by the increasing use of genomic information, and how consideration of the social and physical environments influences those beliefs.
- The impact of the increased availability, marketing and use of genomic information on belief in the deterministic nature of genomic findings and perception of genetic risk.
- How genomic researchers and the research community conceptualize the interplay among genetic factors, the physical environment and the social environment, and how this interplay is manifested in the design of genomic research studies and the communication of research results.
- How the design, conduct and communication of genomic research influences the belief that an individual’s genome determines their future health and well-being.
- The degree to which healthcare practitioners understand and accept the limitations of the use of genomic information in healthcare, and the value they assign to the physical or social environment experienced by an individual patient — particularly patients who experience systemic stigmatization or discrimination based on their race, ethnicity or gender identity.
- How individuals, families and communities understand the interactions between genetic, social and environmental factors in health and disease and how this understanding affects values, norms and behaviors.
- The impact of incorporating social and environmental factors into genomic research on how members of mistreated, underrepresented and underserved communities view the participation in and value of genomic research and healthcare.
Genomics and Social Justice
The social and cultural forces that shape the development, dissemination, understanding and use of genomic information to reinforce or mitigate social inequities.
- How concepts of race, ethnicity and ancestry have been (and are currently) used in genomic research and medicine and the relationships between these uses and the structural racism experienced by individuals and communities in a variety of social and cultural settings.
- How social or scientific movements use genetic information to advance socially defined values, like the eugenics movement, and how those movements influence genomics research.
- The social and cultural forces that mitigate or contribute to the current and historical uses of genetic and genomic information to reinforce social inequity.
- How the design of genomic research studies is shaped by the values and experiences of individual researchers regarding social justice issues.
- How genomic healthcare practices are influenced by the social and cultural values and beliefs of individual healthcare providers, and how these values and beliefs might perpetuate or mitigate existing health disparities.
- How the use of genetic information to reinforce social inequity impacts individual and community views about and interactions with genomic research and healthcare.
- The complex historical, social and cultural factors that shape how members of mistreated, underrepresented and underserved communities view the value and relevance of genomic research and healthcare.
Genomics and Shifting Societal Definitions, Beliefs and Norms
How the generation of genomic information interacts with long-held beliefs, values and traditions and how these interactions shape personal choices and behaviors.
- Effects of increasing genomic knowledge on how wellness, health and disease are defined by patients, caregivers, healthcare providers and the healthcare industry.
- Evolving conceptions of a public "duty" to participate in genomic research.
- How patient-driven genomic medicine affects societal conceptions of individual responsibility for health and wellness, and how this is manifested in individual, family and community values and norms.
- Implications of increasing genomic knowledge, including behavioral genetics knowledge, for conceptions of normality and disability, and the stigmatization of people with differing abilities.
- Personal, familial and community beliefs and values underlying concepts of risk, benefit, clinical or personal utility in genomic research and healthcare.
- How individual, family and community values influence, and are influenced by, the development and use of emerging genomic technologies.
- The implications of possible links between genetics and behavioral traits for conceptions of free will and personal responsibility, and how these changing concepts are manifested in a variety of settings.
- How the development and use of emerging genomic technologies in reproductive settings interacts with the social and cultural beliefs and norms of individuals, communities and institutions.
Genomics and Conceptions of Human Identity and Origins
The complex interactions among genomic information and concepts of human identity and belonging and how socially derived concepts such as race, gender, disability and class influence how genomic information is generated, communicated, interpreted and used.
- The potential perpetuation, strengthening or mitigation 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 and concepts of identity, group membership and belonging.
- How the availability and possible use of technologies that modify the human germline shape concepts of family and inter-generational responsibility.
- The interactions between the increased use and adoption of genomic technologies and traditional religious beliefs and institutions.
- The role of epistemic equality in the design, implementation and dissemination of genomic research studies with indigenous populations.
- Variations in the impact of genomics on the conceptualization of race, ethnicity and ancestry across diverse individuals and groups.
- How genomic information is interpreted and used to reinforce or mitigate discrimination or stigmatization based on racial, ethnic or gender identity.
- Effects of the increasing availability and use of genomic information and technologies on how the relationships among humans, and between humans and non-humans, are understood and valued.
Genomics at the Institutional and System Level
This area of ELSI research explores the interplay, involvement and influence of organizations, institutions, governments and systems within the field of genomics. It includes a focus on internal and external factors that have an impact on these entities’ behavior and related outcomes in genomics. These factors may include macro-level values and norms (e.g., codes of professional behavior, organizational culture and institutional approaches), societal forces (e.g., demographic shifts, public opinion or preferences and economics) and systemic practices and ideologies (e.g., ageism, ableism and racism).
Research in this area could examine system-level influences on:
- the direction and regulation of genomic science, research and technology development;
- widespread use of genomic data, knowledge and tools; and
- diffusion, integration and conceptualization of genomics.
In addition to genomics within healthcare and public health, this area examines the use and direction of genomics by and through a broad range of entities whose mission, scope and impact go beyond health. Examples of these entities include, but are not limited to, genomic technology and informatics industries, direct-to-consumer (DTC) companies that offer genetic ancestry testing and other genomic services, law enforcement, the judicial system, educational systems, professional or occupational associations or advocacy organizations. The ways in which news and popular media report on and conceptualize genomics, including its influence on public opinion about genomics, also are of interest. Finally, as various institutions, systems and other entities engage in genomics in different ways, the sources of systemic or structural inequities related to the field may be examined, along with the ways different entities exacerbate, prevent, mitigate or resolve these inequities.
Institution and System-Based Influences on Genomic Equity
Involvement of organizations, institutions, governments and systems in the perpetuation or mitigation of inequities in the access to and use of genomic science, research and technology.
- The impact of systemic ideologies and practices on disparities in healthcare access or health outcomes where genomics plays a major role.
- Institutional practices that affect equitable access to data, specimens, computational and technological resources necessary to conduct and apply genomic science and technology.
- Research and academic institutional norms, values, perceptions and practices impacting the involvement of diverse groups in the conduct of genetic, genomic and ELSI research.
- Systemic or institutional practices that facilitate or jeopardize the ability to honor community preferences regarding conduct of genetic and genomic research.
- Institutional practices that have an impact on the retention and advancement of racially or ethnically diverse professionals in the conduct of genomic research, the development of genomic technologies and ELSI research.
- Systemic policies, ideologies, values and norms that influence how genetic and genomic data are stored and used.
- Roles of peer-reviewed journals, funders, academia and other institutions in the selection, definition, use and analysis of population descriptors in genomics research, including race, ethnicity, genetic ancestry and gender identity.
System-Level Understandings and Conceptualizations of Genomics
Whether and how organizations, institutions, governments and systems understand genomic data and knowledge, and the ways in which they conceptualize genomics for themselves and others.
- System level factors that contribute to the misrepresentation, misunderstanding or misuse of genomic knowledge.
- How institutional measurement and use of race, ethnicity and genetic ancestry have an impact on perceptions and use of genomics.
- The role various stakeholders play or should play in how research institutions, healthcare organizations, commercial entities, news media or other entities frame and interpret genomic research.
- The impact of news, popular media or social media portrayals of genes as the sole or primary component of human health, behavior or phenotype.
- Efforts by healthcare and other organizations to increase genomic literacy and its impact on opinions about genomic research, genomic informed health services and genomic technologies.
- How promotion of the predictive power of genomics by systems and institutions has an impact on people’s beliefs about the role of the individual in determining their health status or other life outcomes.
- Institution, government or system-level responses to concerns regarding the balance of genetic and genomic data use and issues surrounding data privacy, data protection, data breaches and actual or perceived risks associated with engagement in genomic research or services.
Healthcare System and Public Health Services
The factors that shape healthcare system and public health service understanding, use and integration of genomic information and technologies.
- Clinical and non-clinical impacts of including genomic test information in an institution’s Electronic Health Records (EHRs) and Personal Health Records (PHRs) systems.
- Development of ethical frameworks and criteria to inform the establishment of healthcare system protocols for the return of results to patients receiving genomic testing, including standardized lists of genes for inclusion or exclusion.
- Criteria or frameworks for establishing the use of genomic screening to advance public health across diverse adult populations and ensuring equitable access to follow-up care.
- Provider and healthcare system perceptions about incorporating genomic innovations, including the relative advantages, feasibility, complexities and compatibility with practice patterns.
- Norms and values of genomic research funders, regulators and research, healthcare and public health professional organizations that have an impact on genomics integration into health.
- Perceptions, preferences and expectations of healthcare organizations, third-party payers and patient advocacy groups about precision medicine.
Genomics and the Rights of Individuals and Groups
The use of genomic information by governments and institutions in making decisions or developing policies pertaining to the rights, entitlements, claims or protections owed or granted to groups or individuals; or the relationships among or between groups or individuals.
- Expansion, integration and use of federal, state and other forensic DNA databases and software, including whose DNA is maintained in or added to existing databases and ability to refuse inclusion.
- Use and management of DNA, genetic genealogy databases or other genetic data in the criminal justice system for the purpose of identifying victims or suspects, determining criminal responsibility or sentencing.
- Use of genetic ancestry in eligibility determinations for government-sponsored public health or educational programs (e.g., documentation of Native American/Alaskan Native descent).
- Confirmation or adjudication of biometric identity, geographic ancestry, familial relationships or related claims using genomic data.
- Actual or perceived power of genomic data or information used in legal decisions and its interplay with systemic practices or ideologies (e.g., racism, sexual or gender discrimination).
- Inadvertent, misleading, or potentially harmful outcomes resulting from treating genetic information differently from other types of personally identifiable information in legal or governmental decisions.
- Principles, frameworks and approaches for the development and evaluation of public policies pertaining to the rights of individuals and groups in legal or governmental decision-making about the use of genomic information.
Law, Regulation and Policy Governing Genomics
The development and application of laws, regulations and policies governing genomics.
- Factors influencing system-level regulation, oversight and direction of genomic research, genomic healthcare and non-medical uses of genomics.
- International approaches to the regulation and oversight of emerging genomic technologies, and their impacts on U.S. policies and practices.
- Current and needed law, regulation or policy governing the use of specimens and data in decentralized environments.
- Impact of the Genetic Information Nondiscrimination Act (GINA) and other federal and state laws on genetic discrimination and on institutional behavior.
- Influence of new and emerging genomic technologies on laws or regulations pertaining to human, reproductive and gender identity rights.
- Challenges related to diverse and sometimes contradictory laws, regulations and policies regarding the conduct of genomic research and healthcare in both domestic and international settings (e.g., revised Common Rule, Health Insurance Portability and Accountability Act [HIPAA], Clinical Laboratory Improvement Amendments [CLIA], FDA regulations, EU General Data Protection Regulation [GDPR]).
Industry, Commerce and Economics
The economic forces and other factors that influence the commercialization and commodification of genomic information and technologies.
- Interpretation and use of ancestry biomarkers and other genetic and genomic information by health, life, disability and long-term care insurers in eligibility and coverage determinations.
- Roles and impact of ELSI research, bioethics and community advisory boards in for-profit or commercial genomic settings.
- Data management practices in the direct-to-consumer genetic industry, particularly regarding access to individual genetic and genealogical information.
- Trade-offs and opportunity costs of implementing genomic medicine relative to other healthcare and public health services.
- The role of economic incentives on the promotion and marketing of genomic research by for-profit entities.
- Impact of commercialization on the accessibility of biological specimens, genetic and genomic data and related technologies; and inequities in realizing the immediate and downstream benefit of their use.
Genomic Research Design and Implementation
This area of ELSI research identifies, documents and develops approaches to address challenges related to genetic and genomic research. Projects in this area may seek to understand the varied needs, roles and responsibilities of individuals, communities and researchers related to genomic research and the uses of genomic data. This area also includes questions related to how the design of genomic research studies has an impact on a variety of stakeholders as well as different approaches to the conduct of research. In addition to perennial ELSI issues such as informed consent, return of research results and research governance, this area also encompasses questions that new and evolving genomic technologies and analysis methods raise. Given the notable lack of diversity in the genetic ancestral groups represented in genomic datasets, research addressing the causes, implications and challenges associated with this lack of diversity is of interest, along with strategies to address identified challenges.
Diversity and Inclusion in Genomic Research
The complex issues involved in ensuring the acceptability and accessibility of genomic research studies for all populations, and particularly those that have been or currently are underrepresented, underserved and/or mistreated.
- 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.
- Role of trust and transparency in enhancing the diversity of participants in genetic and genomic research.
- Efforts to address concerns related to privacy, discrimination, historical abuses and mistrust of research.
- Strategies to understand and address current and historical factors driving the current lack of representation of diverse populations in genomic research.
- Efforts and approaches to avoid stigmatizing underrepresented individuals for their lack of participation in genomic research and instead focus on the benefits of and strategies for fostering engagement, trust, diversity and inclusion.
- Measurement, definition and intended purpose of the use of race and ethnicity variables in genomic research (e.g., ancestral biomarkers, self-identified race and ethnicity or U.S. Census categories), and the implications of using race and ethnicity as a proxy for other variables in genomic research (e.g., socioeconomic status, physical environment or racism).
- Perceptions of the risks, benefits and implications of incorporating sexual and gender identity variables in genomic research.
- Fair and equitable distribution of benefits from genomic research.
Community Engaged and Driven Research
The impact of new models of genomic research that are driven by community scientists or that increasingly rely on the engagement of stakeholder communities in the design and conduct of the research.
- New methods and tools to effectively incorporate participant-centered research models and community-engaged approaches into genomic research studies.
- Intersection and impact of citizen science and other community-driven models of research on traditional genomic research and vice versa.
- Data privacy and security issues in genomic citizen science and community-driven research.
- Legal and regulatory considerations for community and/or citizen science related to genomics (e.g., conflict of interest, human subject protections, privacy protections or intellectual property).
- Governance and oversight of community-based models of science, including individual and community uses of genomic research data.
Stakeholder Roles and Responsibilities in Genomic Research
The evolving roles and responsibilities of a wide array of genomic research stakeholders.
- Researcher roles, responsibility and liability in decisions to return or withhold genomic research results.
- Implications of research participants as scientific collaborators or partners, including potentially differing views of the rights and responsibilities of participants.
- Role of participants in governance structures for genomic studies, genomic biobanks and repositories.
- Roles and responsibilities of researchers, laboratories and participants in the re-interpretation of variant pathogenicity in research settings.
- The rights and interests of parents and children in pediatric and family-based genomic research studies.
- The rights and interests of communities and sovereign nations in genomic research studies.
Design and Conduct of Genomic Research
Issues that arise in the design and conduct of genomic research in increasingly complex regulatory, social and technological environments.
- Impact of intellectual property, issues on the design of future genomic research (e.g., the development and/or use of proprietary mutation databases that restrict access to information about the pathogenicity of variants).
- Scientific, legal and ethical issues in the design and implementation of international genomic research collaborations.
- Impact of information regarding the intersection and interaction between genes, the physical environment and other social determinants of health on the design, conduct and communication of genomic research.
- Implications of using self-identified race and ethnicity to assess and maximize diversity when recruiting human subjects for genomic variation research.
- Design, conduct and interpretation of genomic research studies to be inclusive and respectful of all aspects of a participant’s social and cultural identity.
- Definition, application and interpretation of ancestral biomarkers, self-identified race and ethnicity and social determinants of health when used in genomic research, including use as proxy variables or variables of interest.
Consent Processes and Return of Genomic Research Findings
Issues regarding the design and implementation of research consent and the return of genomic research results.
- Participant understanding of the risks, benefits and limitations of genomic research when research occurs in a clinical setting.
- Impact of consent on perceptions and understanding of risks and benefits of genetic and genomic research by research participants, researchers and Institutional Review Boards (IRBs).
- Comparison and evaluation of innovative and evolving approaches to informed consent (e.g., broad consent, unmediated e-consent using patient portals, passive consent or social media consent) and strategies for obtaining effective informed consent in challenging settings (e.g., emergency research or public health crises).
- Cross-cultural informed consent challenges including those related to differing conceptions of the meaning of informed consent or the role of community participation in research.
- Consent and decision-making processes related to the return of genomic research results.
- Management and understanding of uncertain individual research results and secondary findings.
- Use of tissue and health data from deceased individuals in genomic studies, including approaches to consent/authorization, data sharing and return of research results.
Data Science and Data Sharing
Issues surrounding how genomic research data is generated, analyzed, stored and shared.
- Strategies to facilitate equitable access to genomic data and computational resources.
- Strategies to promote transparent and ethical use of genomic and other data in machine learning and artificial intelligence (AI) applications.
- Stakeholder attitudes and practices regarding sharing, security and participant control over the use of individual data and samples.
- Use of non-medical data (e.g., fitness trackers, social media postings or geospatial) in genomic studies including governance of such data and implications of linking to genomic data.
- Potential identifiability of genomic information and approaches for minimizing re-identification.
- Public tolerance for genomic privacy risks, including risks to third parties such as family members and broader communities.
- Protections, consent and governance frameworks to accommodate new uses of genomic data and how uses adhere to evolving protection practices and frameworks.
- Governance, use, security and sharing of cloud-based data.
- Tools to aid individual, family and community decision-making about the use of and access to data.
- Evidence-based policy and data stewardship frameworks that facilitate open science and account for a variety of preferences.
- Roles, rights and responsibilities in genomic data sharing practices, including secondary users of genomic data.
- Ownership and liability issues regarding the secondary use, analysis and sharing of genomic samples and data.
- Use of stored cell lines, samples or data from participants who have not consented to genomic research or data sharing.
This area of ELSI research identifies and addresses ethical, legal, social and policy issues that arise for individuals, communities and care providers as genomic data and technology are translated and applied in a variety of populations and a wide range of healthcare settings. Healthcare can be broadly interpreted to include any manner of provider, health service or healthcare setting. Research in this area includes exploring and addressing the complex issues involved in ensuring the equitable delivery of genomic medicine to avoid exacerbating and to strive towards reducing health disparities. This research can examine evolving uses of genomic testing (e.g., to detect risks of common diseases) to inform treatment selection or to improve preventive screening measures. Research can assess the use and interpretation of genomics as providers and patients confront the significance, nuances and limitations of genomic information; and can explore how the cost of genomic health interventions and payers’ coverage decisions affect the integration, use and uptake of genomics into healthcare.
Equity and Genomic Healthcare
The complex issues involved in ensuring fair and equitable access to and use of genomic healthcare resources.
- Efforts to address inequity, racism, discrimination, historical abuses and mistrust in genomic medicine.
- The impacts of genomic knowledge and medicine on reduction in or exacerbation of existing health disparities.
- Definitions and measurement of equity in provision of genetic and genomic services, milestones to achieve equity and evidence-based strategies to reach them.
- The influence of ethical, historical, social, economic, legal, regulatory, sociocultural and contextual factors on the uptake of genomic medicine in mistreated, underrepresented and underserved communities.
- Roles of ancestral biomarkers and self-identified and other descriptors of race and ethnicity in healthcare decisions.
- Healthcare provider and public health professional perceptions of genomic/genetic health applications for underserved groups.
- Impact of care providers’ implicit and unconscious biases on the delivery and uptake of genomic medicine.
Genomic Information and Healthcare Decision-making
Norms, values, patient-centered concepts and challenges that contribute to and inform decisions about uses of genetic and genomic testing.
- Norms and standards to bring new genomic tests, including polygenic risk scores, into clinical practice.
- Patient-centered concepts of the value, merits and disadvantages of genomic information across diverse populations and healthcare settings.
- Effects of direct-to-consumer genetic products and information on providers and their delivery of medical care.
- Challenges and solutions related to the return of information with low, variable or unknown clinical utility.
- Challenges and approaches to effectively communicating genomic test results of uncertain significance or results that change over time (e.g., results that involve pleiotropic genes, results that link ancestral biomarkers to risk of disease, or results where the pathogenicity is reinterpreted).
Interpretation and Use of Genomic Health Information
The issues arising in the interpretation and use of genomic information in a wide variety of healthcare and public health settings and the roles, rights and responsibilities of various stakeholders.
- Linkage and use in medical care of genomic data paired with clinical information, genetic ancestry, social media, data from personal devices and other data sources.
- Social and ethical implications arising from the use of machine learning and artificial intelligence in genomic healthcare.
- Areas of alignment and contradiction in the approaches and goals of personalized/precision medicine and public health genomics.
- Implications of, and perspectives on, the incorporation of genomic medicine into preventive care and screening in healthy individuals.
- Challenges for genomic medicine as it shifts to address common complex diseases with multifactorial etiology including situating genomic information in the context of other health and environmental risk factors.
- Norms, values and experiences informing decisions to return genomic information for adult-onset diseases to children, adolescents and young adults, and the rights and responsibilities of both parents and children.
- Diversification of health care teams to fully understand, address and manage patient health, psychosocial and other needs with increased integration of genomic information into healthcare.
- Impact of individual genetic testing laboratories priorities and practices on the use and interpretation of genetic and genomic tests.
- Roles and responsibilities across healthcare providers, laboratory directors and healthcare administrators in the management and tracking of genomic information in patient care.
Community and Stakeholder Informed Development of Genomic Healthcare Practices
Models and tools to incorporate community and stakeholder input into genomic healthcare.
- Goals and roles of community consultation and engagement to inform the design and evaluation of genomic healthcare.
- Personal, stakeholder and community priorities and goals for genomic medicine, and approaches to incorporate these goals in the design and practice of genomic healthcare.
- Needs, priorities and preferences of community healthcare providers regarding the development of relevant, accessible and culturally acceptable practices of genomic healthcare.
- Models for transparency and trustworthiness in the practice of genomic healthcare.
Costs and Coverage for Genomic Healthcare
How cost considerations and coverage decisions shape the integration of genomics in a variety of healthcare settings.
- Impact of third-party reimbursement on provider and patient uptake of genomic healthcare and gene therapy.
- Impacts of the results of genomic and genetic testing on coverage decisions regarding downstream care
- Patient, provider and community influences on regulation, pricing and third-party reimbursement of gene therapy for rare and common diseases.
- Approaches to measuring the costs and benefits of genomic tests that simultaneously assess the risk of multiple diseases.
Last updated: April 8, 2021