NIH – Investigator-Initiated Genomic Medicine Research (R01, R21 Clinical Trial Optional)

April 11, 2018 by School of Medicine Webmaster

The National Human Genome Research Institute (NHGRI) is committed to using genomics to advance our understanding of human biology and improve the diagnosis, prevention and treatment of human disease in all populations. NHGRI’s strategic vision extends from basic research to health applications, and projects increasing levels of research activity over time to advance the science of medicine and improve the effectiveness of health care. These latter activities constitute the genomic medicine research portfolio at NHGRI. Advancing the science of medicine includes studying how genomics can impact prevention, diagnosis and treatment; building an evidence base for genomic medicine; understanding how genomic information may contribute to the reduction of health disparities; and improving how we interpret genomic data to facilitate the return of information to clinicians and patients. Improving the effectiveness of health care includes developing innovative approaches to incorporate genomic data into electronic health records (EHRs); demonstrating effectiveness and clinical utility of genomic information across diverse populations; and increasing access to genomic information across different healthcare systems.

The adoption of genomic information in clinical settings has increased and is already making a difference in patient care. To date, NHGRI has primarily funded genomic medicine research through multi-disciplinary consortia, which provide rich opportunities for collaboration or ancillary projects and have produced valuable data resources and tools for independent investigator-initiated genomic medicine research. These programs include the Electronic Medical Records and Genomics (eMERGE) Network, the Clinical Sequencing Evidence-generating Research (CSER) program, the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program, the Implementing Genomics in Practice (IGNITE) consortium and Clinical Genome (ClinGen) Resource. The Undiagnosed Diseases Network (UDN), funded through the NIH Common Fund, along with other projects both in the US and internationally, are also addressing critical aspects of genomic medicine. NHGRI has also held a number of workshops that have provided recommendations for research in genomic medicine by consortia or independent investigators, including: Genomic Medicine IX and XNHGRI Roundtable on Inclusion of Underrepresented Populations in GenomicsIGNITE and BeyondeMERGE and BeyondCSER and Beyond, and eMERGE & CSER: The Convergence of Genomics and Medicine.

The growing application of genomics in clinical settings, combined with the knowledge gained to date from early efforts in genomic medicine research, suggest the need for discrete, focused research projects. These include projects carried out in unique clinical applications or settings, at a single site, which propose nimble, flexible approaches to problems, and do not require large-scale coordinated consortium approaches. This FOA will expand NHGRI’s portfolio of investigator-initiated projects in genomic medicine and develop robust and rigorous science in this area that complements ongoing consortia work at NIH.

Definitions

In the context of this FOA, the following definitions apply:

  • “Genomic medicine” is defined as a medical discipline that involves using genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use.
  • “Genomic data” is defined as single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data, or other molecular data produced by array-based technologies or high-throughput sequencing technologies.
Research Objectives

This FOA will stimulate innovation and advance our understanding of when, where and how best to implement the use of genomic information and technologies in clinical care in all populations. The FOA encourages targeted scientific research studies focused on genomic medicine, including, but not limited to, the impact of genome sequencing on disease prevention, diagnosis, treatment, or subsequent healthcare utilization, the incorporation of pharmacogenomic information into clinical care, strategies for integrating genomic and clinical data through the development and implementation of biomedical ontologies, approaches for facilitating beside-back-to-bench studies, and assessing methods for expanding access to genomic information across healthcare systems.

Areas of Research Interest

This FOA centers on addressing research gaps related to the use of genomic information to advance the science of medicine and improve the effectiveness of healthcare. Application of novel concepts, approaches, methodologies, and/or instrumentation to these questions is encouraged. Projects should be broadly applicable to genomic medicine as a field, rather than being applicable only to a specific disease or disease area. Studies of a single disease or disease area are not encouraged, and will only be considered if it is clearly explained how the proposed work would advance the field of genomic medicine, and a description of how follow-up work would apply to other disease areas is included. Studies that focus on a specific gene, or limited set of genes, should be paradigm-setting and yield findings of relevance at a genomic level. Studies should yield findings of relevance beyond a single site or institution, and demonstrate ability to advance the field if implemented at other settings. Studies should address clinical translation or implementation and should not be focused solely on variant discovery or on functional assays. Genomic medicine research that secondarily addresses ELSI issues will be supported under this FOA, but research primarily focused on Ethical, Legal and Social Implications (ELSI) of genomic medicine will continue to be supported under the ELSI research program. Additional information on ELSI research funding opportunities and priorities is available on the ELSI Research homepage (https://genome.gov/elsi). NHGRI encourages applications that address how genomic information may contribute to the reduction of health disparities, and applications that include population groups traditionally under-represented in genomic research. PD(s)/PI(s) are also encouraged to include investigators and trainees who are members of groups under-represented in the U.S. biomedical, clinical, behavioral and social sciences research enterprise (NOT-OD-18-129).

In the context of their relevance to genomic medicine, the following are examples of the types of research studies that would be appropriate for this FOA. This list is provided as a set of examples, and should not be considered exhaustive. Applicants are encouraged to propose creative and innovative research topics and approaches that go beyond the specific examples listed here:

  • Integration of other data types, such as environmental data, family history, transcriptomics, epigenomics, functional data, or model organism data to improve assessment of clinical validity or clinical utility of genomic information.
  • Development of computational, health-economic, or other analytical approaches that identify characteristics of participants likely to derive the greatest (or conversely, the least) value from incorporating various types of genomic data into clinical care. Applicants considering health-economic approaches should review NOT-OD-16-025, Clarifying NIH priorities for Health Economics Research, https://grants.nih.gov/grants/guide/notice-files/NOT-OD-16-025.html.
  • Assessment of improved approaches for reanalyzing patient genomic data and understanding its impact on clinical care.
  • Improvement of methods to integrate genomic data from heterogeneous sources into EHRs, to facilitate clinical implementation.
  • Comparison of health care utilization or disease outcomes after implementation of clinical decision support tools for genomics.
  • Evaluation of novel approaches to the interpretation of genomic data in ancestrally diverse populations in clinical settings.
  • Evaluation of methods that automate, or otherwise improve the efficiency of, the interpretation of genomic data for implementation in clinical settings.
  • Development of methods to better integrate patient genomic data throughout health systems, and providing evidence that supports integration for payers and regulators.
  • Evaluation of methods for identifying and studying outliers in drug response during clinical care.

All applicants are strongly encouraged to contact NHGRI Staff (see contacts) to discuss the alignment of their proposed work with the goals of this FOA. Because of significant research already in progress on implementing genomics in the care of cancer patients, studies addressing tumor genomics will not be supported under this FOA.

Projects examining ways in which genomic data can be applied in clinical settings to improve the understanding of HIV/AIDS prevention, diagnosis, treatment, and related complications will also be considered in accordance with the high priority topics listed in the NIH AIDS Research Priorities document (https://grants.nih.gov/grants/guide/notice-files/NOT-OD-15-137.html). Applicants are encouraged to include HIV/AIDS patients to address these high priority areas for genomic medicine research, if appropriate. Applicants are also strongly encouraged to contact NIH staff (see contacts) before submitting an AIDS application to this FOA.

NHGRI strongly encourages investigators that plan to collect phenotype and/or environmental exposure data about their study participants to utilize standard protocols included in the PhenX Toolkit (www.phenxttoolkit.org. Applicants are also encouraged to learn about NHGRI genomic medicine research programs to identify possible synergies (https://www.genome.gov/27551170/division-of-genomic-medicine-current-research-programs/).

In addition, a Food and Drug Administration (FDA) Investigational Device Exemption (IDE) may be needed for new genomic technology methods used in clinical care, separate from the requirement for the test to have been conducted within a CLIA-certified environment. Applicants may wish to consult the following Points to Consider in Assessing When an Investigational Device Exemption (IDE) Might be Needed:  http://www.genome.gov/27561291.

Successful awardees will be encouraged to participate in relevant meetings organized by NHGRI.

Deadlines:  June 20, 2018; October 19, 2018; June 20, 2019; October 21, 2019; June 19, 2020; October 20, 2020 (non-AIDS proposals); September 20, 2018; January 22, 2019; September 23, 2019; January 22, 2020; September 21, 2020; January 22, 2021 (AIDS proposals).  Letters of intent due 30 days prior to the deadline.

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Filed Under: Funding Opportunities