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NIH

ELSI Research Domains

Participating NIH Institutes and Centers Research Interest Statements and Contacts

The following are research areas of interest that have been identified by the participating ICs.  Program Officer contact information is also included.

National Human Genome Research Institute (NHGRI)

The NHGRI is interested in research in the three research domains outlined above that addresses:

  • The ethical, legal, and social issues that arise from genomic research and genomic health care across a broad spectrum of diseases and conditions.
  • The broader implications of the expansion of genomic research and genomic health care and of the use of genomic information in non-medical settings.

This includes basic normative and conceptual research and the generation of data and development of tools that can be applied across many different diseases and conditions.  Projects focused on a single disease or disorder may be of lower priority for NHGRI unless generalizability is clearly shown.

Nicole Lockhart (Genetic and Genomic Research)
Telephone: 301-480-2493
Email: lockhani@mail.nih.gov 

Dave Kaufman (Genetic and Genomic Healthcare)
Telephone: 301-594-6907
Email: dave.kaufman@nih.gov

Joy Boyer (Broader Societal Issues)
Telephone: 301-480-2247
Email: boyerj@mail.nih.gov


National Cancer Institute (NCI)

The NCI is interested in research that focuses on the ethical, legal and social issues related to cancer and genomics. In particular, the NCI is interested in the following:

  • Studies on the anticipated and actual psycho-social and behavioral impact of genetic and genomic information on affected individuals, their families, and population.
  • 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 genomics research.
  • Studies on public engagement, including analysis of communication strategies and tools, in cancer genomics research.
  • Studies on the ethical/legal/social implications of the use of genomic technologies to address cancer disparities.
  • Studies addressing ethical/legal/social challenges to improving genomic-based targeted therapies for diverse subpopulations.

The ultimate goal of this research will be to understand how people make sense of and act upon genetic and genomic information related to cancer; to inform the ethical conduct of cancer research involving genetic and genomic information and data; and overall to improve outcomes related to cancer.

Charlisse Caga-Anan
National Cancer Institute (NCI)
Telephone: 240-276-6738
Email: charlisse.caga-anan@nih.gov


National Institute on Aging (NIA)

The National Institute on Aging (NIA) is interested in research that focuses on the ethical, legal and social issues related to aging and genomics.  Examples of topics of particular interest include: research on the anticipated and actual impact of genetic and genomic information; studies on ethical, regulatory and policy challenges in aging research (such as clinical trials, population-based studies) incorporating genetic and genomic technologies; issues raised by the collection, storage and use of biological samples and associated data; studies that incorporate and investigate the perspectives of diverse communities; and studies on models of participant and community engagement or participatory research in aging research. The ultimate goal of this research will be to understand how people make sense of and act upon genetic and genomic information related to aging and diseases of aging; to inform the ethical conduct of aging research involving genetic and genomic information and data; and overall to improve outcomes related to aging and diseases of aging.

  • Clinical, behavioral, and social datasets have large amounts of individual level data.  When combined with biomarker and genetic data, risk assessment is needed to determine the chance of re-identification.
  • With respect to sharing summary statistics, there is uncertainty and inconsistency across the research community as to whether summary statistics from genetic studies can be shared publicly, or whether they should be considered as 'restricted access' data along with individual level information. The determination that summary statistics belong in the category of restricted access individual level data outcomes is costly because of the extra protective measures and personnel needed to ensure compliance. Approaches to risk assessment include but are not limited to determination of the ability to reidentify study participants, and delineation of potential risks and established benefits that should be considered to define principles of summary data sharing. In certain cases, large amounts of data may need to be redacted from a dataset to render summary data sharable; for example, redaction of data where use by commercial entities is prohibited may mean recalculation of entire findings from datasets, which may skew results. In assessing the question of open versus restricted access for meta-analysis summary statistics considerations are of the likelihood that any individual harm or contravention of informed consent could occur if such data are open versus what damage is done by slowing or preventing access to these data should access be restricted.
  • Risk assessment is needed for how changes in the science of a particular disease would impact the disease community with respect to informed consent. An example is the shift from the term "autism" to include the term "autism spectrum"; or the term "Alzheimer's disease" to include "Alzheimer's disease related dementias" when the science motivates this shift. Assessment is needed to determine how such a change can most easily be appreciated by the study population and research community at large, and how this impacts subject understanding of informed consent and the ability to share data.  Evaluation of how to best inform subjects of their genetic data in the context of imaging and/or cognitive assessment outcomes is also needed. 

Marilyn Miller
National Institute on Aging (NIA)
Telephone: 301-496-9350
Email: millerm@nia.nih.gov


National Institute of Allergy and Infectious Diseases (NIAID) (R21 and R03 grant applications only)

The NIAID has specific interest in research that addresses a range of social, ethical and legal issues for individuals and communities related to genetic and genomic research involving infectious disease, allergy, autoimmune disorders and transplantation. Examples of topics of particular interest in these areas include 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, and research related to the return of genetic research results in resource limited settings.

Liza Dawson
National Institute of Allergy and Infectious Diseases (NIAID)
Telephone: 240.627.3210
Email: dawsonl@mail.nih.gov


Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NICHD has specific interest in research that addresses a range of ethical, legal and social issues for individuals and communities related to genetic and genomic research involving the following areas:

  • The implications of using genomic technology to identify genetic causes of disease and disability that may or may not have available treatments and possible intended and unintended secondary uses of this data.
  • The implications of applying genomic technologies for carrier screening, fetal or prenatal diagnosis (including noninvasive prenatal screening), and/or newborn screening.
  • The implications of the use of genomic technologies to diagnose and treat benign gynecologic disorders and fertility-related disorders.
  • The implications of research on human genetic determinants of HIV and/or infectious disease transmission, acquisition and associated co-morbidities among vulnerable populations of mothers, infants, children, adolescents and young adults, in the US or in international settings.
  • The ethics of returning secondary findings with implications for adult-onset conditions in the newborn or child and identification of risks for other family members as a result of genomic technologies applied in fetuses or newborns on a population basis.
  • The ethics of returning genetic research results about HIV and/or other infectious diseases among vulnerable populations in resource limited settings, especially among marginalized groups of youth.
  • The ethics of informed consent for genetic screening and genetic testing, especially among vulnerable populations (e.g., pregnant women, fetuses, children/newborns, individuals with intellectual and developmental disabilities, youth affected by or at high risk of HIV and/or other infectious diseases).  This includes research on views of other stakeholders, such as community members and IRBs or ethics committees.
  • The implications of pharmacogenomic discoveries in children and the lifetime clinical utility of the "portable genome."
  • The ethical issues related to implantable devices and cognition-altering therapies for developmental conditions identified by genomic technologies.
  • The ethical implications of the potential for correcting human disease via gene editing technologies that impact the germline and future generations. 

Tracy King
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Telephone: 301-402-1822
Email: tracy.king@nih.gov


National Institute on Deafness and Other Communication Disorders (NIDCD)

The NIDCD is interested in addressing ethical, legal and social issues, related to normal and disordered processes, that evolve from genomic research in our mission areas of hearing, balance, taste, smell, voice, speech, and language.

Bracie Watson
National Institute on Deafness and Other Communication Disorders (NIDCD)
Telephone: 301-402-3458
Email:  watsonb@nidcd.nih.gov


National Institute of Environmental Health Sciences (NIEHS)

The NIEHS is interested in addressing social, ethical, and legal concerns of the public in research endeavors related to gene-environment interactions, environmental health hazards, genetic susceptibility to environmental exposures and ELSI issues related to research involving children, aged populations, tribal communities and other vulnerable populations impacted by specific environmental exposures. In particular, NIEHS has an interest in supporting collaborations between scientists and the public for the development of culturally appropriate translations of the scientific findings of research on complex, environmentally-relevant diseases, as well as assessment of the comprehensibility and effectiveness of educational interventions used (i.e., whether they raise environmental health literacy). NIEHS is additionally interested in research on the bioethical issues related to ownership of biosamples collected in environmental health studies, data sharing requirements when it involves data derived from tribal-based environmental health studies, or stigma associated with identification of genetic conditions that put individuals at greater risk from environmental exposures.

Symma Finn
National Institute of Environmental Health Sciences (NIEHS)
Telephone: 919-541-4258
Email: finns@niehs.nih.gov


National Institute of Neurological Disorders and Stroke (NINDS) (R01 and R21 grant applications only)

The NINDS is particularly interested in applications which address subjects relevant to its core mission, and the subjects and disorders which it serves as a primary lead at the NIH, see http://www.ninds.nih.gov/about_ninds/mission.htm.

Adam Hartman
National Institute of Neurological Disorders and Stroke (NINDS)
Telephone: 301-496-9135
Email: hartmanad@mail.nih.gov


National Institute on Minority Health and Health Disparities (NIMHD) (R01 and R21 grant applications only)

NIMHD Interests in Initiative

Minority and health disparities populations are underrepresented in genomic research with fewer than 4% of genetic association studies conducted in people of non-European descent.  Within genetic research, health disparities populations have been subject to bias, discrimination and racism and experienced group harms from interpretation of genetic findings.  Further, minority and health disparities populations often have differences in preferences, values, norms and goals for research, health care, and health.  NIMHD is interested in supporting research that seeks to understand or address cultural preferences, values and norms to ensure equitable and ethical uptake of the output of genomic research and genomic medicine.

NIMHD is also interested in supporting research that seeks to understand or address mechanisms and pathways that contribute to health disparities in genomic medicine.  Health disparities arise through an interplay of multiple factors such as genetic, cultural, and structural operating at multiple levels e.g., individual, family/household, community, built environment, and healthcare factors.

The research must focus on one or more U.S. minority or health disparity populations (African Americans/Blacks, Hispanics/Latinos, American Indians/Alaska Natives, Asians, Native Hawaiians and Other Pacific Islanders, socioeconomically disadvantaged populations, underserved rural populations, and sexual and gender minority populations). Research may use available secondary data, health system data and/or collection of primary data.  

Genomic Research

Advance understanding of self-identified race and ethnicity (SIRE) and ancestry informative markers (AIMs) in genomics and biomedical research to enhance ability to describe research participants' diverse backgrounds and experiences in scientifically and socially meaningful ways.

Genomic Health Care
  • Advance creation of linguistic guidelines for discussing social categories and reporting on population variability and health disparities.
  • Advance understanding on how to avoid or mitigate against stigmatization, group harms, and unintended social implications of research for populations.
  • Ethical analysis and/or ways to address cultural and structural barriers and facilitators to enable research participation for racial and ethnic minorities and health disparities populations, including but not limited to, assessing the social value and relevance of research, inaccessibility to research, culturally incongruent research design and/or conduct of research, population mistrust, inadequate health insurance coverage, and legal status in United States.
  • Means within the informed consent process that allows for participants with diverse preferences and cultural norms to take part without compromising study integrity.
Broader Legal, Policy and Societal Issues
  • Research addressing the relationship between race and ethnicity and health outcomes, particularly with outreach into communities that do not traditionally participate in genomics or biomedical research.
  • Communication of the relationship between ancestral biomarkers and self-identified race and ethnicity to individuals and families receiving genomically-based clinical test results.
  • Application of genomic medicine with health disparities populations addressing challenges, barriers and patient and provider knowledge, attitudes and beliefs. 
  • Ways to implement genomic medicine uptake such that equity is achieved, and health disparity populations can participate aligned with their norms and values.
  • Understanding the contribution of genomic, psychosocial, and cultural factors that may have a role in health disparities.
  • Developing a health equity and social justice lens for the development of diagnostic tools, screening criteria, and treatment plans that take into account genetic diversity and environmental and social factors.
Broader Legal, Policy and Societal Issues
  • Implications of genomic variation research and genetic ancestry testing for understanding identity, race and ethnicity, and relationships within and among human populations.
  • Develop tools to address differences in patient and provider knowledge, attitudes, and beliefs around core concepts such as privacy, return of results, ensuring trust in genomic medicine.
  • Implications of policies for health disparities populations within genetic research and genomic health care.

Nancy L. Jones
National Institute on Minority Health and Health Disparities (NIMHD)
Telephone: 301-594-8945
Email. nancy.jones@nih.gov


The Fogarty International Center (FIC) (R03 grant applications only)

The Fogarty International Center (FIC) is interested in supporting research on ethical issues related to human genome research relevant to low and middle income countries, in particular, studies conducted by investigators in these countries.

Barbara Sina
Fogarty International Center (FIC)
Telephone: 301-402-9467
Email: sinab@mail.nih.gov
 

Posted: August 2, 2017