Part 1. Overview Information

Key Dates

All applications are due by 5:00 PM local time of applicant organization. 

Applicants are encouraged to apply early to allow adequate time to make any corrections to errors found in the application during the submission process by the due date.

No late applications will be accepted for this Notice of Funding Opportunity (NOFO).

It is critical that applicants follow the instructions in the Research (R) Instructions in the How to Apply - Application Guide, except where instructed to do otherwise (in this NOFO or in a Notice from NIH Guide for Grants and Contracts).

Conformance to all requirements (both in the Application Guide and the NOFO) is required and strictly enforced. Applicants must read and follow all application instructions in the Application Guide as well as any program-specific instructions noted in Section IV. When the program-specific instructions deviate from those in the Application Guide, follow the program-specific instructions.

Applications that do not comply with these instructions may be delayed or not accepted for review.

There are several options available to submit your application through Grants.gov to NIH and Department of Health and Human Services partners. You must use one of these submission options to access the application forms for this opportunity.

1. Use the NIH ASSIST system to prepare, submit and track your application online.
2. Use an institutional system-to-system (S2S) solution to prepare and submit your application to Grants.gov and eRA Commons to track your application. Check with your institutional officials regarding availability.
3. Use Grants.gov Workspace to prepare and submit your application and eRA Commons to track your application.

Part 2. Full Text of Announcement

Section I. Notice of Funding Opportunity Description

This is a Limited Competition Notice of Funding Opportunity (NOFO).Only applications from recipient organizations funded under the Electronic Medical Records and Genomics (eMERGE): Genomic Risk Assessment and Management Network Clinical Sites (RFA-HG-19-013 and RFA-HG-19-014) are eligible to apply. Please see Section III. Eligibility for additional information. In accordance with NIH standard peer-review processes, the applications will be peer-reviewed, and only meritorious applications will be considered. Applications funded under RFA-HG-25-012 will work in collaboration. 

Definitions. For the purposes of this NOFO, the following definitions are used:

• “Clinical outcomes” refer to any measurable changes in a patient's health, quality of life, or ability to function that result from medical care.
• “Electronic phenotypes (e-phenotypes)” are defined as electronic algorithms that utilize varied types of information from EMRs, computerized laboratory and imaging data, etc., to classify patients as having or not having a specific phenotype with a high degree of accuracy and reproducibility.
• “Genomic risk assessment” is a process to quantitatively assess an individual’s probability of developing a particular disorder using mathematical or statistical models and incorporating such factors as allele frequencies and associated risk estimates of known genomic risk variants, personal health history, family medical history, physical characteristics, and laboratory measurements.
• “Genomic informed risk assessment (GIRA)” incorporates monogenic risk, polygenic risk score (see below), personal health history, family medical history, physical characteristics, and laboratory measurements into a single report that conveys the risk to develop a disease.
• “Patient-participants” (hereafter “patients”) refers collectively to adults as well as to children under age 18 and their parents or guardians.
• “Polygenic risk score (PRS)” is a numeric estimate based on the presence of multiple genomic risk variants and their associated risk estimates (odds ratios, relative risks, etc.) to predict an individual’s risk of developing a disease. PRS as used here comprises only allelic data and no other non-genetic indicators of risk.
• “Risk management” refers to steps taken, typically due to a healthcare clinician’s actions or advice, to modify a person’s risk of developing disease.
• "Secondary findings” refer to results unrelated to the reason for ordering the genomic test but which may be of medical value. (http://www.ncbi.nlm.nih.gov/pubmed/23788249).

To advance and accelerate research to ensure maximal scientific benefit is derived, the resulting data will be shared and align with the broad scientific community for research use through community resource databases such as the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space (AnVIL) or ClinVar.

Background and Objectives

The eMERGE Network entered its fourth phase in July 2020 as the eMERGE Genomic Risk Assessment and Management Network (RFA-HG-19-013, RFA-HG-19-014, RFA-HG-19-015; Jul 2020-Apr 2026), encompasses 10 clinical sites and a coordinating center. The eMERGE Network's fourth phase goals are multifaceted:

• calculating polygenic risk scores (PRS) for complex diseases validated in at least two genetic ancestry groups and sharing the results;
• developing electronic medical record (EMR)-based methods for communicating genomic risk profiles and recommendations for clinical management;
• recruiting and genotyping 25,000 individuals to provide prospective risk assessments for selected conditions; and
• employing EMR-based evaluations to measure the adoption of risk-reduction strategies and their impact on clinical outcomes.

The eMERGE Network validated PRSs  for use across two or more ancestral populations and developed methods to combine PRS, monogenic risk, family health history, and clinical risk factors in novel ways to estimate a patient’s risk of 10 common diseases. The 10 clinical sites recruited patients from various communities along with their clinicians. Clinical and genomic data were combined with family history information gathered from patients to generate standardized risk determinations and individualized care recommendations. The resulting GIRA were returned to patients and their clinicians. Outcome measures were established to assess whether the GIRA influences downstream healthcare utilization, behavior changes, and understanding of disease risk.

By late 2024, the eMERGE Network had recruited and returned a GIRA result to roughly 25,000 patients. As of June 2024, observed proportions of patients at high risk for 8 of the 10 conditions have met or exceeded expected proportions, slightly missing expectations for hypercholesterolemia and asthma. Critical study hypotheses to be tested across all 10 conditions combined include: 1) the proportion of clinicians recommending risk-reducing interventions will be higher in high risk than non-high risk patients; and 2) the proportion of patients undertaking interventions will be higher in high risk than non-high risk patients.

Initial data from multiple sites indicate a statistically significant uptake of risk reducing interventions for several conditions including breast cancer, prostate cancer, and diabetes. Continued patient follow-up beyond 12 months of eMERGE patients is being pursued because screening recommendations for some of the 10 eMERGE conditions involve repeated surveillance in at least some subgroups every 12 months. Other conditions involve longer follow-up intervals in some or all patients. Uptake and sustainability of interventions may differ in those receiving high-risk GIRA results compared to those at lower risk levels or among those differing in demographics (including age), access to healthcare, or social determinants of health.

The objective of the extended follow-up provided by the Outcomes of Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network is to determine whether appropriate uptake and sustainability of interventions persist beyond the initial return of the GIRA. Through multidisciplinary research and scholarship, the eMERGE Network will: 1) extend follow-up of eMERGE patients from a minimum 1 year to a minimum of 4 years; 2) assess longer-term adherence to and outcomes of GIRA-based preventative recommendations among clinicians and patients; and 3) identify correlates of adherence by condition, patient age and other non-genetic factors.

Research Approach

This NOFO supports the longer-term assessment of outcomes by extending the follow-up of eMERGE patients for a minimum of 1 year to a minimum of 4 years. The resulting data are expected to improve methods and workflows for assessing genomically informed risk and to identify more effective ways to present these results in a user-friendly manner that minimizes the burden on busy clinicians while maximizing patient understanding and uptake of recommendations by patients and clinicians. Outcome data are expected to identify characteristics of patients, clinicians, and systems associated with uptake, as well as the potential health outcomes, ethical concerns, social issues, and policy implications of integrating this information into patients’ medical care.

In addition, the recipient organization may, but is not required to, propose strategies for gathering community input regarding implementation activities to retain participants and understand how the outcomes may impact the communities that are recruited into the eMERGE research study. Strategies may include, but are not limited to, involvement of a community advisory board, implementation of focus groups, solicitation of feedback on specific deliverables, inclusion of community members in interpretation of research findings, or raising awareness about research findings within their communities.

Research topics

NHGRI intends to continue supporting the single, Network-wide, combined risk assessment and management protocol that has been implemented across the various populations represented in the 25,000 patients recruited in the current phase of eMERGE (RFA-HG-19-013, RFA-HG-19-014, RFA-HG-19-015).

Examples of topics that could be assessed in analyzing the eMERGE Network outcomes include, but are not limited to, the following:

• The impact of GIRA on patient management, healthcare utilization, clinician workload, and patients' health behaviors and attitudes
• The effects of GIRA on various population groups
• Patient and clinician understanding and acceptance of genomic risk assessments
• The added value of genomic variant information and family history to other clinically derived risk data
• The effectiveness of genomic risk assessments in identifying and managing individuals at high risk for monogenic conditions
• The adoption of risk reduction strategies among patients and clinicians
• The usability and effectiveness of genomic clinical decision support tools in delivering genomic risk assessment results for clinical use
• The value of Natural Language Processing (NLP) and the Observational Medical Outcomes Partnership (OMOP) common data model in enhancing electronic phenotyping and capturing outcome data from the EMR
• The role of AnVIL and similar data resources in reducing barriers and improving the efficiency of genomic medicine research and implementation
• The healthcare, ethical, and policy implications of integrating PRS or GIRA in health care service delivery
• The best methods of risk representation in the EMR

Applicants are not limited to addressing this list of outcomes or topics and are strongly encouraged to contact NHGRI program contacts (listed below) to discuss their proposed topic(s) to ensure pertinence to the objectives of this NOFO.

Organization

Clinical Sites (CSs)

CSs are responsible for conducting the research (patient retention and implementation of all study procedures) and disseminating research findings in collaboration with the CC and NHGRI. In conjunction with the CC and NHGRI, CSs will be responsible for assessing uptake of risk reduction recommendations and other process and health outcomes, and analyzing and interpreting research results. Each CS will participate in a cooperative and interactive manner with all other CSs and the CC in all aspects of the eMERGE Network, including developing Network procedures and working groups, performing quality assessments of data, and assessing clinical uptake and outcomes. As noted above, continued patient involvement is a key aspect of this project. The CSs will work collaboratively with each other and the CC to establish a plan for patient engagement and retention across the eMERGE Network, including patients who are typically more challenging to keep engaged in biomedical research. CSs will also work with the CC to track and obtain follow-up information from patients who are no longer receiving care at one of the funded CSs. The CSs will also work collaboratively with each other and the CC for timely and efficient transmission, in as automated a fashion as possible, of data needed for the CC to continue to monitor retention, data quality, and study outcomes across the entire eMERGE Network.

Coordinating Center (CC)

The CC will play a major research role in preparation and distribution of Network-wide datasets for distributed analysis, joint analyses of Network-wide data including analysis of clinical and cost-effectiveness outcomes and subgroup effects, and coordination of protocol updates and implementation among the sites. The CC will ensure that robust and efficient informatics tools are established at the CSs and CC to continue to collect, store, transmit, and analyze the data as required by the current GIRA protocol. The CC will design and implement a detailed quality assessment and control plan to ensure a high-quality data set is captured and shared among the sites. The CC will also be responsible for ensuring data generated by the eMERGE Network are deposited into a publicly accessible data repository such as AnVIL and ClinVar.

The CC will also perform traditional coordination and support activities and will promote standardization of terminologies and methodologies to be used. Maintaining patient involvement throughout the study is key to the success of this project. The CC will be responsible for working with the CSs to establish and implement a plan for continued patient involvement Network-wide, including efforts to retain patients who are typically more challenging to keep engaged in biomedical research. The CC will also work with the CSs to track and obtain follow-up information from patients who are no longer receiving care at one of the funded CSs.

NHGRI

NHGRI is responsible for organizing and providing overall support and management for eMERGE through the NHGRI Program Office and Grants Management Branch. In addition to regular grant stewardship, the NHGRI Project Scientist(s) will be involved substantially with the award recipients, consistent with the Cooperative Agreement mechanism. 

Steering Committee (SC)

A SC comprising Program Director(s)/Principal Investigator(s) [PD(s)/PI(s)] of the CSs and the CC, and the NHGRI Project Scientist(s), will constitute the main governing body of eMERGE. Major scientific decisions will be determined by majority vote of the SC, with each recipient and NHGRI having one vote that will be done via email or at a Steering Committee meeting. It is anticipated that the SC will meet at least twice per month by conference call. The SC will have primary responsibility for the general organization of eMERGE, conducting and monitoring the combined protocol, reporting results in a timely manner, and disseminating the findings.  

Program Formation and Governance

Awards made under this NOFO and the companion NOFOs will be cooperative agreements (see Section VI.2., Cooperative Agreement Terms and Conditions of Award). Close interaction among award recipients and the NIH will be required to develop appropriate strategies and tools to carry out this program.

Soon after funding, the eMERGE SC will meet to set Network-wide goals for the four-year project period. The SC is expected to establish working groups to facilitate collaborative work and standardize approaches. PDs/PIs may propose new research collaborations with investigators and organizations outside the eMERGE Network, as long as proposed activities are conducted in accordance with the Network policies and practices. Proposed collaborators will be eligible to attend SC meetings, along with pre- and post-doctoral trainees.

External Input to the eMERGE Network

eMERGE will have an External Scientific Panel (ESP). The ESP will provide input on performance and overall progress of eMERGE. The ESP will consist of experts in genomic risk assessment and management, genomic medicine, bioethics, biostatistics, informatics and clinical coordination. An NHGRI scientist will serve as the Executive Secretary to the ESP. The ESP will meet semi-annually (one conference call and one in-person meeting per year) in conjunction with Steering Committee meetings, as appropriate. Following each meeting, the ESP will provide recommendations and a report for PD(s)/PI(s). The eMERGE SC members will receive and consider the ESP’s comments and will provide a written response to the recommendations. Applicants should not propose names of potential advisors in their applications; they will be selected after award.

Clinical Trial Registration

The Outcomes of the eMERGE Genomic Risk Assessment and Management Network applications will be submitted as a clinical trial as described in NOT-OD-15-015, Notice of Revised NIH Definition of Clinical Trial. It is expected that the eMERGE Network will be registered in, and results information submitted to, ClinicalTrials.gov by the CC for the eMERGE Network as a whole as described in NOT-OD-16-149, NIH Policy on the Dissemination of NIH-Funded Clinical Trial Information.

After the initial review, NHGRI program staff will conduct an additional administrative review of the Data Management and Sharing Plan (DMS Plan) and may negotiate modifications of the DMS Plan with the prospective award recipients. The final negotiated version of the DMS Plan will become a term and condition of the award of the cooperative agreement.

Other Research Opportunities

This effort is focused on capturing and analyzing data from the 25,000 patients recruited in the fourth phase of eMERGE (RFA-HG-19-013, RFA-HG-19-014, RFA_HG-19-015). Applicants are encouraged to submit applications to other funding announcements that align with the proposed aims and could be used to augment the ongoing efforts. Applicants could apply to a range of funding announcements including but not limited to Advancing Genomic Medicine Research and Ethical, Legal and Social Implications (ELSI) Research (PAR-23-293, PAR-23-294, PAR-23-295).

Data Management and 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 the broadest 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 here, and ensure the Plan is in alignment with NHGRI’s data sharing expectations, which are summarized at genome.gov/data-sharing.

Investigators proposing NIH-defined clinical trials may refer to the Research Methods Resources website for information about developing statistical methods and study designs.

See Section VIII. Other Information for award authorities and regulations.

Section II. Award Information

NIH grants policies as described in the NIH Grants Policy Statement will apply to the applications submitted and awards made from this NOFO.

Section III. Eligibility Information

1. Eligible Applicants

This is a limited competition NOFO. Only organizations funded under RFA-HG-19-013 and RFA-HG-19-014 are eligible to apply.

Foreign Organizations/International Collaborations

Non-domestic (non-U.S.) Entities (Foreign Organizations) are not eligible to apply.

Non-domestic (non-U.S.) components of U.S. Organizations are not eligible to apply.

Foreign components, as defined in the NIH Grants Policy Statement, are allowed.

NIH will no longer issue awards (i.e., new, renewal, or non-competing continuation) to domestic or foreign entities that involve foreign subawards/subcontracts. All NIH-funded research involving foreign subawards/subcontracts must be submitted in response to a NOFO that is specifically designated for funded international collaborations. This new requirement was effective, May 1, 2025.

Applications involving foreign subawards/subcontracts submitted in response to this NOFO will be deemed noncompliant and will not be considered for funding. This policy applies to all monetary international collaborations resulting in foreign subawards/subcontracts, however, it does not preclude unfunded international collaborations or foreign components, funding for foreign consultants, or procurement of unique equipment or supplies from foreign vendors.

Applicant Organizations

Applicant organizations must complete and maintain the following registrations as described in the How to Apply- Application Guide to be eligible to apply for or receive an award. All registrations must be completed prior to the application being submitted. Registration can take 6 weeks or more, so applicants should begin the registration process as soon as possible. Failure to complete registrations in advance of a due date is not a valid reason for a late submission, please reference the NIH Grants Policy Statement Section 2.3.9.2 Electronically Submitted Applications for additional information.

• System for Award Management (SAM) – Applicants must complete and maintain an active registration, which requires renewal at least annually. The renewal process may require as much time as the initial registration. SAM registration includes the assignment of a Commercial and Government Entity (CAGE) Code for domestic organizations which have not already been assigned a CAGE Code.
  • NATO Commercial and Government Entity (NCAGE) Code – Foreign organizations must obtain an NCAGE code (in lieu of a CAGE code) in order to register in SAM.
  • Unique Entity Identifier (UEI) - A UEI is issued as part of the SAM.gov registration process. The same UEI must be used for all registrations, as well as on the grant application.
• eRA Commons - Once the unique organization identifier is established, organizations can register with eRA Commons in tandem with completing their Grants.gov registrations; all registrations must be in place by time of submission. eRA Commons requires organizations to identify at least one Signing Official (SO) and at least one Program Director/Principal Investigator (PD/PI) account in order to submit an application.
• Grants.gov – Applicants must have an active SAM registration in order to complete the Grants.gov registration.

Program Directors/Principal Investigators (PD(s)/PI(s))

All PD(s)/PI(s) must have an eRA Commons account.  PD(s)/PI(s) should work with their organizational officials to either create a new account or to affiliate their existing account with the applicant organization in eRA Commons. If the PD/PI is also the organizational Signing Official, they must have two distinct eRA Commons accounts, one for each role. Obtaining an eRA Commons account can take up to 2 weeks.

Any individual(s) with the skills, knowledge, and resources necessary to carry out the proposed research as the Program Director(s)/Principal Investigator(s) (PD(s)/PI(s)) is invited to work with their organization to develop an application for support.

For institutions/organizations proposing multiple PDs/PIs, visit the Multiple Program Director/Principal Investigator Policy and submission details in the Senior/Key Person Profile (Expanded) Component of the How to Apply-Application Guide.

Only the PI/PDs associated with the eligible applicant organizations funded under RFA-HG-19-013 and RFA-HG-19-014 are eligible to apply.

2. Cost Sharing

This NOFO does not require cost sharing as defined in the NIH Grants Policy Statement Section 1.2 Definition of Terms.

3. Additional Information on Eligibility

Number of Applications

Applicant organizations may submit more than one application, provided that each application is scientifically distinct.

The NIH will not accept duplicate or highly overlapping applications under review at the same time, per NIH Grants Policy Statement Section 2.3.7.4 Submission of Resubmission Application. This means that the NIH will not accept:

• A new (A0) application that is submitted before issuance of the summary statement from the review of an overlapping new (A0) or resubmission (A1) application.
• A resubmission (A1) application that is submitted before issuance of the summary statement from the review of the previous new (A0) application.
• An application that has substantial overlap with another application pending appeal of initial peer review (see NIH Grants Policy Statement 2.3.9.4 Similar, Essentially Identical, or Identical Applications).

Section IV. Application and Submission Information

1. Requesting an Application Package

The application forms package specific to this opportunity must be accessed through ASSIST, Grants.gov Workspace or an institutional system-to-system solution. Links to apply using ASSIST or Grants.gov Workspace are available in Part 1 of this NOFO. See your administrative office for instructions if you plan to use an institutional system-to-system solution.

2. Content and Form of Application Submission

It is critical that applicants follow the instructions in the Research (R) Instructions in the How to Apply - Application Guide except where instructed in this notice of funding opportunity to do otherwise (in this NOFO, in a policy notice, or other notice from NIH Guide for Grants and Contracts). Conformance to the requirements in the Application Guide is required and strictly enforced. Applications that are out of compliance with these instructions may be delayed or not accepted for review.

Page Limitations

All page limitations described in the How to Apply- Application Guide and the Table of Page Limits must be followed.

The following section supplements the instructions found in the How to Apply- Application Guide and should be used for preparing an application to this NOFO.

SF424(R&R) Cover

All instructions in the How to Apply - Application Guide must be followed.

SF424(R&R) Project/Performance Site Locations

All instructions in the How to Apply- Application Guide must be followed.

SF424(R&R) Other Project Information

All instructions in the How to Apply- Application Guide must be followed.

SF424(R&R) Senior/Key Person Profile

All instructions in the How to Apply- Application Guide must be followed.

R&R or Modular Budget

All instructions in the How to Apply- Application Guide must be followed.

CS budgets should include the costs required for active Network participation, including regular teleconferences and meetings of the SC and its working groups. For budgeting purposes, applicants should budget for attendance of 4-5 investigators from each CS at three SC meetings (2 days, 1-2 nights) throughout the project period.

For budgeting purposes, each CS should assume it will be retaining, or working to retain, all the patients recruited in the current phase of their award. CS budgets should include formulating and providing longer-term (up to 4 years) risk management recommendations to high-risk patients and their clinicians. Budgets should also include extracting, cleaning, and harmonizing the data to the Network agreed-upon data model including electronically transferring the data to the CC for Network-wide analysis.

Network-wide data storage and computation costs will be borne by the CC. CS budgets should not include costs for local storage of eMERGE data. Both CSs and CC are expected to conduct both site-specific and large-scale collaborative analyses on the AnVIL platform. CSs will need to budget for compute and egress charges on AnVIL based on Google Cloud Platform pricing. NHGRI will continually assess the utilization of AnVIL and determine whether limited support for site-specific analyses on platforms external to AnVIL is needed.

Budgets should include any funds required to support sharing of scientific data under this NOFO. NIH provides guidance on allowable costs for data management and sharing here. For projects generating genomic data derived from research participants, investigators should consider costs associated with complying with the NIH and NHGRI GDS Policy expectations (e.g., obtaining samples with explicit informed consent for future research use and broad data sharing, implementing processes to seek new consent from study participants, etc.).

R&R Subaward Budget

All instructions in the How to Apply - Application Guide must be followed.

PHS 398 Cover Page Supplement

All instructions in the How to Apply - Application Guide must be followed.

PHS 398 Research Plan

All instructions in the How to Apply - Application Guide must be followed, with the following additional instructions:

Introduction to Application
The Outcomes of Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management study aims to capture and analyze outcome data from roughly 25,000 patients enrolled in the current phase of eMERGE (RFA-HG-19-013, RFA-HG-19-014, RFA-HG-19-015). During Years 1–3, efforts will concentrate on data capture, harmonization, and interim analysis, with Year 4 dedicated to comprehensive study analysis and dissemination of results.

Specific Aims
Each Clinical Site (CS) will aim to:

• Formulate and provide longer-term (up to 4 years) risk management recommendations to high-risk patients recruited under RFA-HG-19-013, RFA-HG-19-014, RFA-HG-19-015 and their clinicians.
• Retain, or work to retain, all patients recruited under RFA-HG-19-013, RFA-HG-19-014, RFA-HG-19-015 and capture electronic medical record (EMR) and questionnaire data from them.
• Analyze and deposit outcome data and disseminate findings through publications and scientific conferences.

Research Strategy

Applicants should detail their plans for the collection, harmonization, and analysis of demographic, clinical, genomic, psychosocial, and healthcare utilization data captured from the 25,000 patients recruited in the current phase of eMERGE (RFA-HG-19-013, RFA-HG-19-014, RFA-HG-19-015) for outcome analysis. This plan should include their strategies for ensuring high data quality and collaborating with the CC on design and implementation of quality assessment and control protocols. They should also include the necessary expertise to be able to capture and harmonize this data. They should also describe their plans for determining whether refinement or revision of current eMERGE GIRA risk stratification is needed and how this will be implemented.

Applicants should describe their approach to patient and clinician follow-up, detailing strategies for recontact and retention, surveys to be conducted, outcomes to be assessed, and milestones to ensure timely follow-up and data submission throughout the follow-up period. Outcome data should aim to characterize patient, clinician, and system factors associated with uptake, and assess the potential benefits and risks of receiving GIRA results. Applicants should also describe key questions they propose to address during this phase. Furthermore, applicants should propose ideas for Network-wide analyses, including potential subgroup analyses and a clear description of the population descriptors they will use for their analyses. Results from this phase could also serve as foundational data for future clinical trials evaluating the clinical utility of GIRA-informed approaches; this should be considered in analysis plans.

Additionally, applicants should describe their plans for monitoring and updating monogenic testing conducted in the current phase of eMERGE, noting that advancements in PRS may prompt the SC to consider refinements to eMERGE GIRAs. For minors recruited in the current phase who will reach the age of majority, applicants should describe their plans for consent and potential involvement of these patients’ parents or guardians (if any) moving forward.

Applicants should describe the informatics expertise and approaches they will employ to maintain version control of GIRA results, support clinical decision tools, and share EMR data with the CC for deposition in data resources such as AnVIL.

Applicants must describe their approach to capturing longitudinal data to measure outcomes, including data collected both within and outside their health system. This should, at a minimum, include details on clinician orders prompted by the GIRA, clinical actions performed on patients, relevant actions taken by patients, and relevant historical data associated with the GIRA.

Applicants should also outline mechanisms for the rapid, timely, and secure extraction and transfer of study data to the CC and/or other designated data repositories.

Multiple PD/PI Leadership Plan and Consortium/Contractual Arrangements
Applicants should detail the experience and expertise of the PD(s)/PI(s) and senior/key personnel in capturing and analyzing prospective cohort data. They should highlight prior work within multi-site research networks, emphasizing contributions toward individual study and collaborative goals. They should also describe the CS’s established research program in relevant scientific areas, including expertise in clinical medicine, biostatistics, bioethics, healthcare utilization and policy, programming and data management, quality assurance and data integrity, project management, regulatory knowledge, and outcomes research. Multidisciplinary teams to help address the research questions proposed by the eMERGE Network are encouraged.

Letters of Support
The application should include letters of support from institutional and departmental leadership, demonstrating commitment to the Network and agreement to participate under a single IRB for multi-site research. Letters should affirm institutional and departmental commitment to capturing, harmonizing, and sharing patient data, including EMR and questionnaire data. Applicants are encouraged to showcase institutional support, such as protected time, research leadership roles, facilities, and resources dedicated to the CS. Additionally, letters of support should be included for CS(s) involved in capturing outcome data that are outside their existing health system.

Estimated Timeline
Years 1–3 will focus on planning for follow-up research opportunities or collaborations, data capture, harmonization, and interim analysis, with Year 4 dedicated to comprehensive analysis and results dissemination. Throughout all four years, award recipients are expected to participate actively in Network-wide data monitoring and analysis. Year 4 will also involve data analysis, publication, and dissemination of findings and methods.

Resource Sharing Plan: Individuals are required to comply with the instructions for the Resource Sharing Plans as provided in the How to Apply - Application Guide.

The following instructions also apply:

The Resource Sharing Plan should summarize whether and how resources (e.g., educational materials; methods; models; physical products, materials, and reagents; protocols; research findings and products; and software) will be made available. Applicants should include a description of the format, an indication of who will be responsible for implementation and plans for long-term maintenance, whether there will be opportunities for community input and feedback, platform(s) or mechanism(s) that will be used to make resources publicly accessible, and proposed timeline for implementing the Resource Sharing Plan. Resource Sharing Plans should not duplicate other sections of the main Research Plan but should refer to them when appropriate.  After initial review, NHGRI program staff may negotiate revisions of this plan with the prospective awardee. The final negotiated version of this plan will become a term and condition of the award.

For more guidance on writing a Resource Sharing Plan, see https://genome.gov/resource-sharing.

In addition to the above expectations, NHGRI expects that plans for sharing software generated under this funding opportunity will meet the following expectations:

• Applicants sharing software are encouraged to consider the NIH Best Practices for Sharing Research Software, and to use software licenses that allow for unrestricted redistribution and modification of the software.
• Source code should be freely available to biomedical researchers and educators in the non-profit sector, such as institutions of education, research institutions, and government laboratories. The terms of software availability should permit the commercialization of enhanced or customized versions of the software, or incorporation of the software or pieces of it into other software packages.
• NHGRI encourages making software citable with persistent identifiers such as a DOI or a citation.cff.
• To preserve utility to the community, the software should be transferable such that another individual or team can continue development in the event that the original investigators are unwilling or unable to do so.
• Software should promote reproducibility and use of automated pipelines where possible.
• Applicants should take responsibility for creating the original and subsequent “official” versions of a piece of software.

 Other Plan(s): 

All instructions in the How to Apply - Application Guide must be followed, with the following additional instructions:

To assist in improving data sustainability and utility, applicants are encouraged to align the development of their data sets using the Findable, Accessible, Interoperable, Reproducible (FAIR) Guiding Principles (https://www.nature.com/articles/sdata201618). Per NOT-HG-21-022, NHGRI expects applications awarded under this NOFO to share comprehensive metadata and phenotypic, clinical, and environmental exposure data associated with the study; use standardized data collection protocols and survey instruments for capturing data, as appropriate; and use standardized notation for metadata (e.g., controlled vocabularies or ontologies) to enable the harmonization of datasets for secondary research analyses.

To ensure that maximal scientific benefit is derived from this significant public investment, this funding opportunity aims to advance and accelerate research by supporting rapid sharing of the resulting data with the broad scientific community for research use, through submission of all data to the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space (AnVIL), through submission of variant interpretations to ClinVar, and through publication in the scientific literature. Although NHGRI expects project datasets and human variant information from studies selected through this NOFO to be made available through AnVIL and ClinVar, data can be shared in additional appropriate resources to enhance dissemination.

Applicants are encouraged to get feedback from the communities in which the research will be performed regarding plans for sharing individual level data resulting from the research projects with the scientific community for research purposes. Feedback and recommendations for data access, protection of participant and patient privacy and confidentiality, and management of health information should be integrated into the Data Management and Sharing Plan. Note that any project receiving NIH funding that collects or uses identifiable, sensitive information is automatically deemed issued a Certificate of Confidentiality (CoC).

Participants must be consented for broad data sharing in consultation with the involved communities. For additional guidance on informed consent, see the NHGRI Informed Consent Resource. In addition, it is expected that individual-level genomic data generated for the program will be designated in institutional certification documents as General Research Use (GRU) as described at https://osp.od.nih.gov/scientific-sharing/researchers-institutional-certifications/ when submitting datasets to NIH-supported databases.

Where human biological samples will be studied, they are expected to have been obtained using a documented informed consent process that allows for future research use and broad data sharing (NOT-HG-20-011). If new human biospecimens will be collected, or if clinical application is included in the application, the consent process should be described at a high level in the Research Plan and detailed in the Human Subjects Section.

Data security encompasses confidentiality, data integrity, and availability. Confidentiality includes managing data access to maintain data security and making data accessible to authorized users only for authorized purposes. Data security protection and proper stewardship of human genomic, phenotypic, clinical, and other sensitive information stored and distributed is of the utmost importance. The Notice for Use of Cloud Computing Services for Storage and Analysis of Controlled-Access Data Subject to the Data Management and Sharing Policy (DMSP) (https://grants.nih.gov/grants/guide/notice-files/NOT-OD-21-013.html) as well as the NIH Genomic Data Sharing (GDS) Policy (https://grants.nih.gov/grants/guide/notice-files/NOT-OD-15-086.html) allows investigators to perform genomic analyses on a cloud platform. The NIH security best practices and provisions (https://www.ncbi.nlm.nih.gov/projects/gap/pdf/dbgap_2b_security_procedures.pdf) should be implemented to protect the privacy and confidentiality of research participants and prevent unauthorized access to data. Investigators are expected to develop policies and procedures for notifying NHGRI, and managing, and mediating any loss of data or compromise of data confidentiality.

All applicants planning research (funded or conducted in whole or in part by NIH) that results in the generation of scientific data are required to comply with the instructions for the Data Management and Sharing Plan. All applications, regardless of the amount of direct costs requested for any one year, must address a Data Management and Sharing Plan.

Appendix: Only limited Appendix materials are allowed. Follow all instructions for the Appendix as described in the How to Apply - Application Guide.

• No publications or other material, with the exception of blank questionnaires or blank surveys, may be included in the Appendix.

PHS Human Subjects and Clinical Trials Information

When involving human subjects research, clinical research, and/or NIH-defined clinical trials (and when applicable, clinical trials research experience) follow all instructions for the PHS Human Subjects and Clinical Trials Information form in the How to Apply- Application Guide, with the following additional instructions:

If you answered “Yes” to the question “Are Human Subjects Involved?” on the R&R Other Project Information form, you must include at least one human subjects study record using the Study Record: PHS Human Subjects and Clinical Trials Information form or Delayed Onset Study record.

Study Record: PHS Human Subjects and Clinical Trials Information

All instructions in the How to Apply - Application Guide must be followed.

Delayed Onset Study

Note: Delayed onset does NOT apply to a study that can be described but will not start immediately (i.e., delayed start). All instructions in the How to Apply- Application Guide must be followed.

PHS Assignment Request Form

All instructions in the How to Apply- Application Guide must be followed.

3. Unique Entity Identifier and System for Award Management (SAM)

See Part 2. Section III.1 for information regarding the requirement for obtaining a unique entity identifier and for completing and maintaining active registrations in System for Award Management (SAM), NATO Commercial and Government Entity (NCAGE) Code (if applicable), eRA Commons, and Grants.gov

4. Submission Dates and Times

Part I. contains information about Key Dates and times. Applicants are encouraged to submit applications before the due date to ensure they have time to make any application corrections that might be necessary for successful submission. When a submission date falls on a weekend or Federal holiday, the application deadline is automatically extended to the next business day.

Organizations must submit applications to Grants.gov (the online portal to find and apply for grants across all Federal agencies). Applicants must then complete the submission process by tracking the status of the application in the eRA Commons, NIH’s electronic system for grants administration. NIH and Grants.gov systems check the application against many of the application instructions upon submission. Errors must be corrected and a changed/corrected application must be submitted to Grants.gov on or before the application due date and time.  If a Changed/Corrected application is submitted after the deadline, the application will be considered late. Applications that miss the due date and time are subjected to the NIH Grants Policy Statement Section 2.3.9.2 Electronically Submitted Applications.

Applicants are responsible for viewing their application before the due date in the eRA Commons to ensure accurate and successful submission.

Information on the submission process and a definition of on-time submission are provided in the How to Apply-Application Guide.

5. Intergovernmental Review (E.O. 12372)

This initiative is not subject to intergovernmental review.

6. Funding Restrictions

All NIH awards are subject to the terms and conditions, cost principles, and other considerations described in the NIH Grants Policy Statement.

Pre-award costs are allowable only as described in the NIH Grants Policy Statement Section 7.9.1 Selected Items of Cost.

Applications must be submitted electronically following the instructions described in the How to Apply Application Guide. Paper applications will not be accepted.

Applicants must complete all required registrations before the application due date. Section III. Eligibility Information contains information about registration.

For assistance with your electronic application or for more information on the electronic submission process, visit How to Apply – Application Guide. If you encounter a system issue beyond your control that threatens your ability to complete the submission process on-time, you must follow the Dealing with System Issues guidance. For assistance with application submission, contact the Application Submission Contacts in Section VII.

Important reminders:

All PD(s)/PI(s) must include their eRA Commons ID in the Credential field of the Senior/Key Person Profile form. Failure to register in the Commons and to include a valid PD/PI Commons ID in the credential field will prevent the successful submission of an electronic application to NIH. See Section III of this NOFO for information on registration requirements.

The applicant organization must ensure that the unique entity identifier provided on the application is the same identifier used in the organization’s profile in the eRA Commons and for the System for Award Management. Additional information may be found in the How to Apply Application Guide.

See more tips for avoiding common errors.

Upon receipt, applications will be evaluated for completeness and compliance with application instructions by the Center for Scientific Review and responsiveness by components of participating organizations, NIH. Applications that are incomplete, non-compliant and/or nonresponsive will not be reviewed. 

Recipients or subrecipients must submit any information related to violations of federal criminal law involving fraud, bribery, or gratuity violations potentially affecting the federal award. See Mandatory Disclosures, 2 CFR 200.113 and NIH Grants Policy Statement Section 4.1.35.

Send written disclosures to the NIH Chief Grants Management Officer listed on the Notice of Award for the IC that funded the award and to the HHS Office of Inspector Grant Self Disclosure Program at grantdisclosures@oig.hhs.gov.

Post Submission Materials

Applicants are required to follow the instructions for post-submission materials, as described in the policy

Section V. Application Review Information

1. Criteria

Only the review criteria described below will be considered in the review process. Applications submitted to the NIH in support of the NIH mission are evaluated for scientific and technical merit through the NIH peer review system.

Reviewers will provide an overall impact score to reflect their assessment of the likelihood for the project to exert a sustained, powerful influence on the research field(s) involved, in consideration of the following scored review criteria and additional review criteria (as applicable for the project proposed). An application does not need to be strong in all categories to be judged likely to have a major scientific impact.

Reviewers will consider Factors 1, 2 and 3 in the determination of scientific merit, and in providing an overall impact score. In addition, Factors 1 and 2 will each receive a separate factor score. 

As applicable for the project proposed, reviewers will consider the following additional items while determining scientific and technical merit, but will not give criterion scores for these items, and should consider them in providing an overall impact score.

As applicable for the project proposed, reviewers will consider each of the following items, but will not give scores for these items, and should not consider them in providing an overall impact score.

2. Review and Selection Process

Applications will be evaluated for scientific and technical merit by (an) appropriate Scientific Review Group(s), convened by CSR, in accordance with NIH peer review policies and practices, using the stated review criteria. Assignment to a Scientific Review Group will be shown in the eRA Commons.

As part of the scientific peer review, all applications will receive a written critique.

Applications may undergo a selection process in which only those applications deemed to have the highest scientific and technical merit (generally the top half of applications under review) will be discussed and assigned an overall impact score.

Appeals of initial peer review will not be accepted for applications submitted in response to this NOFO.

Applications will be assigned to the appropriate NIH Institute or Center. Applications will compete for available funds with all other recommended applications submitted in response to this NOFO. Following initial peer review, recommended applications will receive a second level of review by the National Advisory Council for Human Genome Research. The following will be considered in making funding decisions:

• Scientific and technical merit of the proposed project as determined by scientific peer review.
• Availability of funds.
• Relevance of the proposed project to program priorities.

If the application is under consideration for funding, NIH will request "just-in-time" information from the applicant as described in the NIH Grants Policy Statement Section 2.5.1. Just-in-Time Procedures. This request is not a Notice of Award nor should it be construed to be an indicator of possible funding.

Prior to making an award, NIH reviews an applicant’s federal award history in SAM.gov to ensure sound business practices. An applicant can review and comment on any information in the Responsibility/Qualification records available in SAM.gov. NIH will consider any comments by the applicant in the Responsibility/Qualification records in SAM.gov to ascertain the applicant’s integrity, business ethics, and performance record of managing Federal awards per 2 CFR Part 200.206 “Federal awarding agency review of risk posed by applicants.” This provision will apply to all NIH grants and cooperative agreements except fellowships.

3. Anticipated Announcement and Award Dates

After the peer review of the application is completed, the PD/PI will be able to access his or her Summary Statement (written critique) via the eRA Commons. Refer to Part 1 for dates for peer review, advisory council review, and earliest start date.

Information regarding the disposition of applications is available in the NIH Grants Policy Statement Section 2.4.4 Disposition of Applications.

Section VI. Award Administration Information

1. Award Notices

A Notice of Award (NoA) is the official authorizing document notifying the applicant that an award has been made and that funds may be requested from the designated HHS payment system or office. The NoA is signed by the Grants Management Officer and emailed to the recipient’s business official.

In accepting the award, the recipient agrees that any activities under the award are subject to all provisions currently in effect or implemented during the period of the award, other Department regulations and policies in effect at the time of the award, and applicable statutory provisions.

Recipients must comply with any funding restrictions described in Section IV.6. Funding Restrictions. Any pre-award costs incurred before receipt of the NoA are at the applicant's own risk.  For more information on the Notice of Award, please refer to the NIH Grants Policy Statement Section 5. The Notice of Award and NIH Grants & Funding website, see Award Process.

Individual awards are based on the application submitted to, and as approved by, the NIH and are subject to the IC-specific terms and conditions identified in the NoA.

ClinicalTrials.gov: If an award provides for one or more clinical trials. By law (Title VIII, Section 801 of Public Law 110-85), the "responsible party" must register and submit results information for certain “applicable clinical trials” on the ClinicalTrials.gov Protocol Registration and Results System Information Website (https://register.clinicaltrials.gov). NIH expects registration and results reporting of all trials whether required under the law or not. For more information, see https://grants.nih.gov/policy/clinical-trials/reporting/index.htm

Institutional Review Board or Independent Ethics Committee Approval: Recipient institutions must ensure that all protocols are reviewed by their IRB or IEC. To help ensure the safety of participants enrolled in NIH-funded studies, the recipient must provide NIH copies of documents related to all major changes in the status of ongoing protocols.

Data and Safety Monitoring Requirements: The NIH policy for data and safety monitoring requires oversight and monitoring of all NIH-conducted or -supported human biomedical and behavioral intervention studies (clinical trials) to ensure the safety of participants and the validity and integrity of the data. Further information concerning these requirements is found at http://grants.nih.gov/grants/policy/hs/data_safety.htm and in the application instructions (SF424 (R&R) and PHS 398).

Investigational New Drug or Investigational Device Exemption Requirements: Consistent with federal regulations, clinical research projects involving the use of investigational therapeutics, vaccines, or other medical interventions (including licensed products and devices for a purpose other than that for which they were licensed) in humans under a research protocol must be performed under a Food and Drug Administration (FDA) investigational new drug (IND) or investigational device exemption (IDE).

2. Administrative and National Policy Requirements

The following Federal wide and HHS-specific policy requirements apply to awards funded through NIH:

• The rules listed at 2 CFR Part 200, Uniform Administrative Requirements, Cost Principles, and Audit Requirements for Federal Awards.
• All NIH grant and cooperative agreement awards include the NIH Grants Policy Statement as part of the terms and conditions in the Notice of Award (NoA). The NoA includes the requirements of this NOFO. For these terms of award, see the NIH Grants Policy Statement Part II: Terms and Conditions of NIH Grant Awards, Subpart A: General and Part II: Terms and Conditions of NIH Grant Awards, Subpart B: Terms and Conditions for Specific Types of Grants, Recipients, and Activities.

All federal statutes and regulations relevant to federal financial assistance, including those highlighted in NIH Grants Policy Statement Section 4 Public Policy Requirements, Objectives and Other Appropriation Mandates.

By applying for or accepting federal funds from HHS, recipients certify compliance with all federal antidiscrimination laws and these requirements and that complying with those laws is a material condition of receiving federal funding streams. Recipients are responsible for ensuring subrecipients, contractors, and partners also comply.

Applicants and recipients are strongly encouraged to refer to the NIH Director’s Statement of Priorities, entitled “Advancing NIH’s Mission Through a Unified Strategy.” 

Recipients are responsible for ensuring that their activities comply with all applicable federal regulations. Pursuant to 2 CFR 200.340, by accepting an NIH award, the recipient agrees that continued funding for the award is contingent upon the availability of appropriated funds, recipient satisfactory performance, compliance with the Terms and Conditions of the award, and may also otherwise be terminated, to the extent authorized by law, if the agency determines that the award no longer effectuates the program goals or agency priorities, in line with 2 CFR 200.340(a)(4).

Pursuant to the Cybersecurity Act of 2015, Div. N, § 405, Pub. Law 114-113, 6 USC § 1533(d), the HHS Secretary has established a common set of voluntary, consensus-based, and industry-led guidelines, best practices, methodologies, procedures, and processes.

Successful recipients under this NOFO agree that:

When recipients, subrecipients, or third-party entities have:

1. ongoing and consistent access to HHS owned or operated information or operational technology systems; and 
2. receive, maintain, transmit, store, access, exchange, process, or utilize personal identifiable information (PII) or personal health information (PHI) obtained from the awarding HHS agency for the purposes of executing the award.

Recipients shall develop plans and procedures, modeled after the NIST Cybersecurity framework, to protect HHS systems and data. Please refer to NIH Post-Award Monitoring and Reporting for additional information. 

The following special terms of award are in addition to, and not in lieu of, otherwise applicable U.S. Office of Management and Budget (OMB) administrative guidelines, U.S. Department of Health and Human Services (HHS) grant administration regulations at 2 CFR Part 200, and other HHS, PHS, and NIH grant administration policies.

The administrative and funding instrument used for this program will be the cooperative agreement, an "assistance" mechanism (rather than an "acquisition" mechanism), in which substantial NIH programmatic involvement with the award recipients is anticipated during the performance of the activities. Under the cooperative agreement, the NIH purpose is to support and stimulate the award recipients' activities by involvement in and otherwise working jointly with the award recipients in a partnership role; it is not to assume direction, prime responsibility, or a dominant role in the activities. Consistent with this concept, the dominant role and prime responsibility resides with the award recipients for the project as a whole, although specific tasks and activities may be shared among the award recipients and NIH as defined below.

The PD(s)/PI(s) will have the primary responsibility for:

• Determining research approaches, designing analysis plan, setting project milestones, and conducting research.
• Ensuring that the software, resources, materials, etc. produced as part of this project are released appropriately according to the Resource Sharing Plan.
• Ensuring that the data produced as part of this project are released appropriately according to the Data Management and Sharing Plan.
• Preparing abstracts, presentations and publications in a timely manner.
• Adhering to policies regarding sharing of genomic and other types of data, data access, and standardized formats; timely publication; and intellectual property established by the NIH, NHGRI, and SC.
• Not disclosing confidential information.
• Interacting with other relevant NHGRI and NIH activities, as needed, to promote synergy and consistency among similar or related projects.
• Participating in group activities, including a study-wide Steering Committee to share design and analysis techniques and ensure adherence to study-wide protocols for risk assessment and management.
• Implementing SC recommendations for protocol implementation and data collection including genomic, phenotypic, family history, clinical, and related data derived from EMR systems and collected according to protocols validated within eMERGE.
• Providing protocols, reports, and data to the CC, other CS, and NHGRI in a timely fashion as agreed to upon by the SC.
• Cooperating with other eMERGE investigators in the timely publication and dissemination of results of the study and the eventual release to the scientific community of methods, tools, results, and resources.
• Abiding by common definitions, protocols, and procedures as approved by majority vote of the SC.
• Adhering to policies regarding data access, publication, and intellectual property established by NIH and the Steering Committee for this program.
• Notifying the Project Scientist(s) of all major interactions with another member of the SC related to the eMERGE Network.
• Submitting periodic progress reports in a standard format, as agreed upon by the Steering Committee, External Scientific Panel, and Project Scientist.
• Attending and participating in Steering Committee meetings and accepting and implementing the guidelines and procedures of the External Scientific Panel and NIH, as appropriate.
• Abiding by relevant policies, including, but not limited to:
  • Notice for Use of Cloud Computing Services for Storage and Analysis of Controlled-Access Data Subject to the NIH Genomic Data Sharing (GDS) Policy (https://grants.nih.gov/grants/guide/notice-files/NOT-OD-15-086.html )
  • Notice on Clarifying NIH Priorities for Health Economics Research (https://grants.nih.gov/grants/guide/notice-files/NOT-OD-16-025.html )
  • Final NIH Policy on the Use of a Single Institutional Review Board for Multi-Site Research (https://grants.nih.gov/grants/guide/notice-files/NOT-OD-16-094.html)
  • FDA policy on Investigational Device Exemptions (IDE): http://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/HowtoMarketYourDevice/InvestigationalDeviceExemptionIDE/default.htm
  • Award recipients will retain custody of and have primary rights to the data and software developed under these awards, subject to Government rights of access consistent with current DHHS, PHS, and NIH policies.

NIH staff have substantial programmatic involvement that is above and beyond the normal stewardship role in awards, as described below:

The Project Scientist(s) are scientists of the NHGRI who will have substantial scientific and programmatic involvement during the conduct of this activity through technical assistance, advice, and coordination. However, the role of NIH staff will be to facilitate and not to direct the activities. It is anticipated that decisions in all activities will be reached by consensus of the eMERGE Network and that NIH staff will be given the opportunity to offer input to this process.  They and/or other NHGRI scientists may serve on additional committees, when appropriate. The NHGRI Project Scientist (and other NHGRI program staff) may work with award recipients on issues coming before the SC and, as appropriate, other committees (e.g., recruitment, implementation, intervention, follow-up, quality control, adherence to protocol, assessment of problems affecting the study and potential changes in the protocol, data completeness and quality control monitoring, data analysis and interpretation, and preparation of publications). The NHGRI representatives will have the same access, privileges, and responsibilities regarding the collaborative data as the other members of the SC, and will have a single individual or collective vote on the SC.

The Project Scientist/Scientific Officer (PS/SO) at NHGRI is a dual role held by a NHGRI Program Director. In the Project Scientist role, the Program Director will have substantial scientific and programmatic involvement during the conduct of this activity through technical assistance, advice, and coordination. In the Scientific Officer role, the Program Director will be responsible for the normal scientific and programmatic stewardship of the award and manages concerns about bias as it affects the project. The role of NHGRI PS/SO will be to facilitate and not to direct the activities or to vote individually on consortium matters. The PS/SO will be named in the Notice of Award.

The Project Scientist will have the following substantial involvement:

• Participating with the other Steering Committee members in the group process of setting research priorities, deciding optimal research approaches and protocol designs, and contributing to the adjustment of research protocols or approaches as warranted. The Project Scientist will assist and facilitate the group process and not direct it.
• Serving as a liaison, helping to coordinate activities among and for the award recipients, including acting as a liaison to the NIH, and as an information resource for the award recipients about genome research activities. The Project Scientist will also coordinate the efforts of the program with other groups conducting similar studies.
• Attending all Steering Committee meetings and assisting in developing operating guidelines, quality control procedures, and consistent policies for dealing with situations that require coordinated action. The Project Scientist will be responsible for working with the Coordinating Center as needed to manage the logistic aspects of the program.
• Reporting periodically on the progress of the program to the Director, NHGRI, and to the National Advisory Council for Human Genome Research.
• Assisting Recipient(s) in the development, if needed, of policies for dealing with situations that require coordinated action.
• Providing advice on the management and technical performance of the award.
• Retaining the option to recommend the withholding or reduction of support from any project that fails to achieve its goals or comply with the Terms and Conditions of the award.
• Serving on subcommittees of the SC, as appropriate.
• Serving as a liaison between the Steering Committee and the External Scientific Panel, attending External Scientific Panel meetings in a non-voting liaison member role, and arranging for timely preparation and distribution of meeting minutes.
• Serving as a liaison between the Steering Committee and other federal agencies such as the Food and Drug Administration (FDA) or the Centers for Medicaid and Medicare Services (CMS).
• Assisting award recipients in the development, if needed, of policies for dealing with situations that require coordinated action.
• Providing advice in the management and technical performance of the award.
• Assisting in promoting the availability of the data and related resources developed in the course of this program to the eMERGE Network and the scientific community at large.
• Being responsible for the normal scientific and programmatic stewardship of the award, including assessments of how well the recipient has met any milestones required for each year of funding.
• Involving NIH or NHGRI staff who may assist the Recipient(s) as designated by the PS/SO.
• Where warranted and consistent with authorship and conflict of interest requirements of journals in which the eMERGE Network decides to publish, co-authoring manuscripts through their role in scientific program management.
• Reserving the right to terminate or curtail the study (or an individual award) and requiring the recipient to submit a close-out plan within two (2) months of the decision to terminate in the event of (a) failure to implement the study protocol, (b) a substantial shortfall in participant recruitment, follow-up, data reporting and dissemination, quality control, or other major breach of the protocol, (c) substantive changes in the agreed-upon protocol with which NHGRI does not concur, (d) reaching a major study objective substantially before schedule with persuasive statistical evidence, or (e) human subjects ethical issues that may dictate a premature termination.

Areas of Joint Responsibility include:

Since there are multiple awards working toward a common goal, close interaction between the participating Recipient(s) and the PS/SO will be required, to manage, assess, and implement the eMERGE Network. This is accomplished by:

• Meeting as Steering Committee, subcommittees, working groups, or individually with PD/PS to share information on data resources, methodologies, analytical tools, data analyses, preliminary results, etc.
• Establishing best practices for data integration and collaborative analyses as appropriate.
• Setting research priorities, deciding optimal research approaches and protocol designs, and contributing to the adjustment of research protocols or approaches as warranted.
• Generating responses to ESP recommendations.
• Establishing best practices for IRB interactions, patient consent or assent (as appropriate), and results reporting, and for collecting, formatting, documenting, and sharing data as appropriate.
• In addition to the PD(s)/PI(s), key co-investigators and pre-and postdoctoral trainees are eligible to attend these meetings. NHGRI encourages these co-investigators and trainees to become involved in key consortium working groups, to lead and report on analyses, etc.

The PS/SO will assist and facilitate the group process and not direct it.

The SC will develop its own operating procedures and may establish subcommittees to oversee the development and implementation of Network policies including data releases, publications and standards, etc. Subcommittees may be either permanent or time limited, and may include additional experts, depending on the needs of the research. The PD(s)/PI(s) will be expected to play an active role in these working groups, as appropriate.

• The SC will serve as the main scientific body of the program. The SC will be responsible for coordinating the activities being conducted by the program. The SC membership will include one NHGRI Project Scientist, and the PD/PI from each awarded cooperative agreement from this and accompanying NOFOs. The SC may add additional members, and other government staff may attend the SC meetings as desired. It is anticipated that additional coordination mechanisms may be set up with other U.S. and international groups that may collaborate with the program. 
• Award recipients agree to the governance of the study through a SC. The lead investigator(s) from each CS and the CC and an NHGRI representative will comprise the SC. All major scientific decisions will be determined by majority vote of the SC. Each CS and the CC will have one vote. NIH is responsible for organizing and providing overall support and management for the Consortium. In addition to regular grant stewardship, the NIH Project Scientist(s) will be involved substantially with the award recipients, consistent with the Cooperative Agreement mechanism. The NIH Project Scientist(s) will, together, be a voting member of the SC and will have a single vote. Note that each CS and the CC will have one vote, even if there are multiple PD(s)/PI(s). If the CSs or CC choose to utilize the multi-PD/PI mechanism, all the PDs/PIs are expected to participate in all SC meetings and teleconferences; however, each CS still has only one vote. It is anticipated that SC meetings will be 3 times a during the award period.
• An independent External Scientific Panel (ESP) will be appointed by the Director, NHGRI, to provide overall monitoring of study performance, interim data, and safety issues. An NHGRI scientist will serve as Executive Secretary to the ESP.
• Members of the SC will be required to accept and implement policies approved by the SC.
• The SC will establish best practices for IRB interactions, patient consent or assent (as appropriate), and results reporting, and collecting, formatting, documenting, and sharing data as appropriate.

Dispute Resolution:

Any disagreements that may arise in scientific or programmatic matters (within the scope of the award) between award recipients and the NHGRI may be addressed by convening a Dispute Resolution Panel.  It will be composed of three members: a designee of the SC chosen without NIH staff voting, one NIH designee, and a third designee with expertise in the relevant area who is chosen by the other two; in the case of disagreement for one award, the first member may be chosen by that recipient. This special dispute resolution procedure does not alter the recipient's right to appeal an adverse action that is otherwise appealable in accordance with PHS regulation 42 CFR Part 50, Subpart D and DHHS regulation 45 CFR Part 16.

External Scientific Panel (ESP).

The ESP will be composed of senior scientists with expertise relevant to the study implemented in the program. They will meet at least twice per year, once per year in person and once by telephone conference. At least once per year, there will be a joint meeting with the SC to allow the members of the ESP and the SC to interact directly. Twice per year the ESP will assess the progress and data integrity, of the study and make recommendations to the Network about changes, if any.

Consistent with the 2023 NIH Policy for Data Management and Sharing, when data management and sharing is applicable to the award, recipients will be required to adhere to the Data Management and Sharing requirements as outlined in the NIH Grants Policy Statement. Upon the approval of a Data Management and Sharing Plan, it is required for recipients to implement the plan as described.

Award 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). NHGRI supports the broadest 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 here, and ensure the Plan is in alignment with NHGRI’s data sharing expectations, which are summarized at genome.gov/data-sharing. As of January 25, 2023, sharing of genomic data and other scientific data are to be documented via a single Data Management and Sharing (DMS) Plan. For more information on the NIH and NHGRI data sharing policies and expectations, see http://www.sharing.nih.gov and http://www.genome.gov/data-sharing.

4. Reporting

When multiple years are involved, recipients will be required to submit the Research Performance Progress Report (RPPR) annually and financial statements as required in the NIH Grants Policy Statement Section 8.4.1 Reporting. To learn more about post-award monitoring and reporting, see the NIH Grants & Funding website, see Post-Award Monitoring and Reporting.

A final RPPR, invention statement, and the expenditure data portion of the Federal Financial Report are required for closeout of an award, as described in the NIH Grants Policy Statement Section 8.6 Closeout. NIH NOFOs outline intended research goals and objectives. Post award, NIH will review and measure performance based on the details and outcomes that are shared within the RPPR, as described at 2 CFR Part 200.301.

Section VII. Agency Contacts

We encourage inquiries concerning this funding opportunity and welcome the opportunity to answer questions from potential applicants.

eRA Service Desk - Questions regarding ASSIST, eRA Commons, application errors and warnings, documenting system problems that threaten submission by the due date, and post-submission issues.

Grants.gov Support Center - Questions regarding Grants.gov registration and services (e.g., Workspace, subscriptions).

Division of Genomic Medicine
National Human Genome Research Institute (NHGRI)
Email: NHGRI_DGMed@nih.gov

Examine your eRA Commons account for review assignment and contact information (information appears two weeks after the submission due date).

Grants Administration Branch
National Human Genome Research Institute (NHGRI)
Email: nhgrigab@mail.nih.gov

Section VIII. Other Information

Recently issued trans-NIH policy notices may affect your application submission. A full list of policy notices published by NIH is provided in the NIH Guide for Grants and Contracts. All awards are subject to the terms and conditions, cost principles, and other considerations described in the NIH Grants Policy Statement.

Awards are made under the authorization of Sections 301 and 405 of the Public Health Service Act as amended (42 USC 241 and 284) and under Federal Regulations 42 CFR Part 52 and 2 CFR Part 200.