The 2020 NHGRI Strategic Vision notes that genomics has become increasingly woven into the fabric of biomedical research, medical practice, and society and points to the continued importance of focusing on ethical, legal, and social implications (ELSI) research. As biomedical investigators are applying genomic knowledge and tools to study an expanding range of diseases and traits in a wide array of settings, novel ELSI questions continue to emerge.
Innovations in gene editing, gene therapy, polygenic risk scores, and genomic testing across various life stages continue. However, the use of new genomic technologies and information is not always preceded by confirmation of their validity, reliability or utility across populations. Sufficient evidence may be lacking to determine whether new innovations are transferrable across health care settings or valid in populations whose genomic data were not used in their discovery. Professional norms, systemic practices, and societal forces may affect the uptake of genomic medicine across communities.
Genomic data are being generated, shared and commercialized in an array of settings from academic medical centers to the pharmaceutical industry. Fueled by advances in informatics and sequencing technologies, genomic data is increasingly merged with data from personal mobile health devices, electronic health records, direct-to-consumer tests, social media accounts, assays of environmental exposures, and geocoding systems. The size and scope of research datasets continue to grow, at the same time that broad data sharing has become standard scientific practice. In response, models of data ownership and data stewardship are under scrutiny and in flux. Assessing how governance strategies and technology can be used to ensure that genomic data are ethically sourced and responsibly shared remain considerable challenges.
Translating genomic research and data into benefits for the public presents another set of challenges. The relative dearth of genomic data collected from populations who remain understudied in biomedical research and underserved in the healthcare system can limit genomic utility and innovation. Potential deficits may be exacerbated by the application of artificial intelligence and machine learning approaches to genomic data analysis. These methods will not produce accurate results if the data upon which they are trained are incomplete. Efforts to help ensure that the human genome reference sequence and population-based genomic datasets better represent existing human genomic variation are underway. However, evaluating and addressing the availability and quality of genomic information for all Americans is an ongoing challenge.
Genomic information can have profound implications for how people understand themselves as individuals, and in relationship or contrast to others. There are many examples where the value and predictive nature of genomic information was overstated and misappropriated to the detriment of society. Examples include research suggesting that complex phenotypes such as hypertension, diabetes, and depression can be meaningfully explained by genomic factors without accounting for other non-genetic risk factors. These oversimplified attributions of individual and group differences to genetic causes alone threatens the integrity of genomic science and research.
Overall, ongoing advancement and change in the conduct of genomic research and the translation of genomic science may require key stakeholders to revisit, revise and reiterate the norms and responsibilities that guide the field. New ELSI questions continue to arise about genomics while other questions endure, resurface, or are transformed. Yet, at the forefront of genomics remains an incredible array of opportunities to improve the health and wellbeing of all people.
The purpose of this NOFO is to solicit applications for research projects that identify, examine, and address the ELSI of advances in genomics for individuals, families, communities, groups, institutions, and society.
To address the broad scope and reach of genomics and corresponding ELSI issues, applications are invited from investigators representing a wide range of academic disciplines, including, but not limited to, bioethics, the humanities (e.g., history, religion, philosophy, literature), behavioral and social sciences (e.g., psychology, sociology, anthropology, political science, economics, communication science), law, genetic and genomic science, genetic counseling, clinical medicine, health services and implementation science research, health outcomes, health communications, public health, and data science.
Applications are encouraged from multidisciplinary investigator teams who represent a broad range of disciplines, experiences and perspectives.
Applications may propose studies using either single or mixed methods. Approaches may include, but are not limited to, conceptual, legal, and normative analyses in addition to empirical qualitative and quantitative methods. Applied research conducted to address real-world ELSI issues facing genomics or to facilitate the uptake of ELSI findings may also be proposed.
NIH encourages applicants to consider the use of variables provided in the PhenX Toolkit which provides recommended standard measures for use in biomedical research. These measures have been selected by domain experts using a consensus process. The Toolkit provides protocols for collecting data, and tools to help investigators incorporate protocols into their studies. Using protocols from the PhenX Toolkit facilitates cross-study analysis, potentially increasing the reproducibility and scientific impact of individual studies.
Community and Stakeholder Involvement
There are a variety of communities and stakeholders whose knowledge, perspectives and experiences can inform and improve the field of genomics. Community or stakeholder involvement in any and all phases of a research project is not required but is allowed. For the purposes of this NOFO, the term community refers to “a group or groups of people affiliated by geographic proximity, special interest, or similar situations” (Centers for Disease Control and Prevention, 2011). The term stakeholders refers to individuals, organizations or communities that have a direct interest in the process and outcomes of a project, research or policy endeavor (Deverka et al. 2012). Community and stakeholder involvement may include a range of methods or approaches that vary in level and intensity, including, but not limited to, establishment of advisory boards or panels, stakeholder-driven research, community-oriented research, or community-based participatory research.
Areas of Research Interest
Participating NIH Institutes, Centers, and Offices (ICOs) listed at the top of this announcement have specified research areas of interest on the ELSI Participating NIH ICOs webpage.
Prospective applicants are strongly encouraged to review these resources and contact the scientific/research contacts listed in Section VII of this NOFO prior to initiating plans for application submission.
Related Notices of Funding Opportunity
Applications to this NOFO should propose exploratory or developmental studies that can be accomplished in two to three years. Often these applications perform pilot or feasibility studies or are used to generate data in preparation for a larger study.
For very small projects, such as those involving single investigators, focused conceptual or analytical studies, or secondary data analyses, applicants may wish to consider PAR-25-370the ELSI Small Research Grant (R03) NOFO, which provides a total of up to $50,000 in direct costs a year for two years. For larger multi-disciplinary studies that are building on preliminary data and require funding beyond two years, applicants may wish to consider PAR-25-371the ELSI Research Project Grant (R01) NOFO, which provides funding for up to five years. Note that not all Institutes and Offices participating in this R21 NOFO participate in the R01 or R03 NOFOs.
Data sharing
Recipients must comply with the NIH Data Management and Sharing Policy (NOT-OD-21-013) and NIH Genomic Data Sharing Policy (NOT-OD-14-124). NIH recognizes Tribal sovereignty and the rights associated with Tribal sovereignty around data collection, data management and sharing of data and has published a supplemental Notice regarding the DMS Plan for AI/AN populations, NOT-OD-22-214. NHGRI supports broad appropriate data sharing with timely data release through widely accessible data repositories. Please follow the NIH guidance on writing a Data Management and Sharing (DMS) Plan. Applications directed to NHGRI should ensure the Plan is in alignment with NHGRIs data sharing expectations, which are summarized at genome.gov/data-sharing.
Applicants are strongly encouraged to contact NIH Scientific/Research Staff at the relevant participating ICO(s) listed at the end of this NOFO, prior to developing an application to discuss whether their application is responsive.
