ResearchNet - RechercheNet

Table of Contents

• Description
• Objectives
• Eligibility
• Guidelines
• Review Process and Evaluation
• How to Apply
• Contact Information
• Sponsor Description
• Additional Information

Description

Background

In Canada, using current clinical diagnostic pathways, rare diseases (RDs) take an average of seven years to diagnose. This includes 2-3 misdiagnoses prior to the final correct diagnosis, with many specialist and subspecialist visits and much unnecessary testing. This diagnostic odyssey, along with social isolation, an absence of care coordination, and often high socioeconomic and mental health burdens, are frequently the norm for those living with RDs Compounding the situation is the fact that more than two thirds of RDs have a pediatric onset.

The majority (>80%) of RDs are disorders caused by single-gene mutations. Advances in genomics have increased the number of RDs that can be identified, from 500 five years ago¹ to over 5,500 of the 7,000 known genetic RDs at present² with this number rapidly increasing. Although genomics as a diagnostic tool for RDs has emerged in the past few years as an option, it is often the last diagnostic test ordered once all other traditional possibilities have been exhausted. Nonetheless, there are inherent expected advantages to using genomics to diagnose RDs earlier in the care pathway. Using genomics early on is expected to reduce the time to diagnosis to 6 months, and consequently, significantly reduce the existing cost associated with the current “diagnosis odyssey”. In addition, genomics would not only facilitate increased precision of the diagnosis but could also potentially decrease the indirect socioeconomic and psychological impact on patients with RDs and their families. For instance, early diagnosis would enable access to therapies earlier in life, many of which could prevent lifelong disability (e.g., mental impairment). Importantly, not all RD therapies are expensive, and many can have life-changing consequences – if diagnosed in time.

Purpose

This funding opportunity will support research that will determine the best pathway to diagnose RDs by moving genomic testing towards the front end of the care pathway, taking into consideration optimal integration in clinical care, ethical legal and social aspects, and resources required to support this integration. To achieve this goal, research will generate evidence that allows adequate assessment of the clinical effectiveness, economic feasibility and effects on the socioeconomic and psychological wellbeing of patients, caregivers, and family members.

Role and Contributions of Applicant Partners: CIHR recognizes that a broad range of partners may be relevant to this opportunity and it is expected that applicant(s) describe the role of all applicant partners and how/if they will contribute to research and research related activities. Any consideration of risk and/or conflict of interest should also be explained, as appropriate.

Funds Available

CIHR and partner(s) financial contributions for this initiative are subject to availability of funds. Should CIHR or partner(s) funding levels not be available or are decreased due to unforeseen circumstances, CIHR and partner(s) reserve the right to reduce, defer or suspend financial contributions to grants received as a result of this funding opportunity.

• The total amount available for this funding opportunity is $4,125,000, enough to fund three (3) Team Grants over 3 years. The maximum amount per grant is $458,333 per year for up to 3 years, for a total of $1,375,000 per grant.

For more information on the appropriate use of funds, refer to Allowable Costs.

Objectives

The specific objectives of this funding opportunity are to:

• Generate high quality evidence required to optimize the RD diagnosis pathway in Canada;
• Evaluate the health outcomes associated with RDs via the ‘genomics first’ diagnosis pathway compared to the current approach (i.e., genomic testing performed later);
• Determine the economic impact to the health care system for the ‘genomics first’ diagnosis pathway and compare to current diagnostic pathways for RDs;
• Evaluate the socioeconomic and psychological impacts of delays in the diagnosis on patients/families with RDs from a diversity of population groups and communities in Canada using the ‘genomics first’ diagnostic paradigm as a comparator; and
• Mobilize knowledge to facilitate the implementation, scale and spread of best practices for diagnosing RDs in Canada.

Eligibility

Eligibility to Apply

For an application to be eligible, all the requirements stated below must be met:

1. The Nominated Principal Applicant (NPA) must be one of the following:
   1. an independent researcher affiliated with a Canadian postsecondary institution and/or its affiliated institutions (including hospitals, research institutes and other non-profit organizations with a mandate for health research and/or knowledge translation);
      OR
   2.  an individual affiliated with an Indigenous non-governmental organization in Canada with a research and/or knowledge translation mandate;
      OR
   3. an Indigenous non-governmental organization in Canada with a research and/or knowledge translation mandate.
2. The NPA must have their substantive role in Canada for the duration of the requested grant term.
3. The Institution Paid must be authorized to administer CIHR funds before the funding can be released (see Administration of Funds).
4. The research team must include an Early Career Researcher (ECR) identified as a Principal Applicant (PA).
5. The team must include at least one of each of the following in the role of PA or Co-Applicant:
   • Genetic counsellor; AND
   • Health economist.
6. The team must include at least one of each of the following in the role of Principle Knowledge User (PKU), Knowledge User (KU), PA or Co-Applicant:
   • Decision maker or policy maker; AND
   • Clinician scientist or healthcare professional.
7. The team must include at least one patient/caregiver/family member in the role of PKU, KU or Co-Applicant.
8. The team must have a Sex and Gender Champion and an Equity, Diversity and Inclusion (EDI) Champion:
   • Combined, the champions must have experience in (i) sex- and gender-based analysis (SGBA) or with gender diversity in the community; (ii) fostering EDI in research and/or applied settings (e.g., promoting equitable access to research participation or inclusion of typically underrepresented population groups in decision making), and (iii) creating Sex and Gender and EDI plans for diversity of team composition;
   • These individuals may hold other roles within the team in addition to standing as the team’s Sex and Gender and EDI champions;
   • The Sex and Gender and EDI champion roles may be served by the same individual or different individuals.
9. The NPA* and the Sex and Gender Champion (if different from the NPA) must have successfully completed the appropriate SGBA training module(s) available online through the CIHR Institute of Gender and Health and submit a Certificate of Completion. Applicants are encouraged to review the How to integrate sex and gender in research section on the CIHR website. See How to Apply for more details.
   *Organizations as NPAs: For organizations applying as the NPA, a representative of the organization must complete the training module on the organization’s behalf.
10. For applications involving research with Indigenous Peoples the research team must include at least one applicant who self-identifies as Indigenous (First Nations, Inuit or Métis) and/or provides evidence of having meaningful and culturally safe involvement with Indigenous Peoples.

Guidelines

General CIHR Policies

Before submitting an application to this funding opportunity, applicants should review the relevant policies and guidelines on the CIHR Funding Policies page to ensure understanding of their responsibilities and expectations.

Equity, Diversity and Inclusion and Indigenous Rights

CIHR is committed to promoting the inclusion and advancement of groups historically excluded from science as one of the means to enhance excellence in research, training and knowledge mobilization. This means recognizing and reducing systemic barriers, mitigating biases, as well as including and benefiting from the full pool of talented researchers and trainees in the system. CIHR’s position on EDI is available in the Tri Agency Statement on Equity, Diversity and Inclusion.

CIHR recognizes that First Nations, Métis and Inuit are rights-holding as First Peoples of Canada and may not consider themselves to be part of equity-seeking groups (e.g., women, racialized minorities, persons with disabilities and members of 2SLGBTQI+ communities). Taking a rights- and distinctions-based approach to Indigenous self-determination in research is important to reflect this position and to strengthen Indigenous health and well-being. CIHR’s commitment to supporting Indigenous self-determination in health research is available in the CIHR Strategic Plan 2021–2031 and the Action Plan: Building a healthier future for First Nations, Inuit, and Métis peoples.

Allowable Costs

Applicants are advised to consult the Use of Grant Funds section of the Tri-Agency (CIHR, NSERC and SSHRC) Guide on Financial Administration (TAGFA) to determine if an expenditure is an appropriate use of grant funds.

To further clarify, the following expenses are examples of appropriate uses of grant funds, provided they satisfy the principles and pertinent directives of the TAGFA:

• Release Time Allowance: Funds can be used to compensate the Knowledge Users, including patients/caregivers/family members for their time spent engaged in the research program.
• Examples of types of compensation for patient partners can be found in the Considerations for Paying Patient Partners in Research.
• Expenditures that respect the culture and traditions of Indigenous Peoples, where needed for the meaningful conduct of research. See TCPS 2 - Chapter 9 Research Involving the First Nations, Inuit and Métis Peoples of Canada and TAGFA Directive on Gifts, Honoraria and Incentives. These include:
  • Costs related to community mobilization and engagement, including culturally relevant promotional items such as tobacco, cloth, feasting and gift giving for honoring ceremonies, and cash reimbursements (in a method acceptable to the individual or community being reimbursed) to compensate community participation; and
  • Contracts and/or consultant fees for knowledge translation and communication activities for Indigenous Elders, community members, and Indigenous Knowledge Keepers involved in activities related to the Indigenous community.
• Support for researchers to accommodate diverse populations: training to ensure cultural safety - for example religious and ethnic minority populations.

Use of Personal Information

• Personal information submitted during the application process, including but not limited to information provided through applicant CVs, the Equity, Diversity and Inclusion Self-identification Questionnaire and other application documents required by this funding opportunity, will be made available to CIHR personnel for the purposes of future program design and delivery, results measurement and reporting. For further information about the EDI self-identification questionnaire and the use of personal information, see the Equity, Diversity and Inclusion Self-identification Questionnaire Frequently Asked Questions.
• Reports may be shared with the Health Canada leads of the National Strategy for Drugs for Rare Diseases (See Conditions of Funding for report details).

Conditions of Funding

• Data related to First Nations, Inuit or Métis communities whose traditional and ancestral territories are in Canada must be managed in accordance with data management principles developed and approved by those communities, and on the basis of free, prior and informed consent. This includes, but is not limited to, considerations of Indigenous data sovereignty, as well as data collection, ownership, protection, use, and sharing.
• The applicant must consent to the use and disclosure of full application and nominative information at the time of application, for purposes of relevance review and/or funding decisions by the relevant sponsors.
• The Nominated Principal Applicant will be required to submit an annual report. Requirements for this report will be provided by CIHR. The template for the report and instructions will be provided 3 months prior to the submission deadline.
• The Nominated Principal Applicant along with other team members are strongly encouraged to attend and participate in knowledge mobilization events linked to the Government of Canada’s National Strategy for Drugs for Rare Diseases.
• The Nominated Principal Applicant will be required to submit an electronic Final Report to CIHR. This online report will be made available to the Nominated Principal Applicant on ResearchNet at the beginning of the grant funding period and can be filled in as the research progresses.
• The Principal Applicants who are successful in this competition are strongly encouraged to actively participate in peer review, and as members of the CIHR College of Reviewers, when invited.
• CIHR is a signatory to the World Health Organization’s Joint Statement on Public Disclosure of Results from Clinical Trials (“WHO Joint Statement”) requiring all clinical trials to be registered and the results disclosed publicly in a timely manner. For more information, please consult the CIHR Policy Guide - Requirements for Registration and Disclosure of Results from Clinical Trials.

Review Process and Evaluation

Relevance Review Process

CIHR Institute of Genetics will perform a relevance review to identify applications that are in alignment with the purpose and objectives of this funding opportunity.

Applications that are not deemed to be relevant will be withdrawn from the competition.

Review Process

Peer review will be conducted in accordance with the priority-driven initiatives review guidelines.

Iterative review may be implemented should the review panel conclude that clarifications and/or adjustments to protocol, outcomes, or other proposal elements are required.

For information on CIHR’s peer review principles, see the Peer Review: Overview section of CIHR’s website.

Evaluation Criteria

To support the strategic objectives of this funding opportunity, the following evaluation criteria will be used:

1. Research Approach
   1. Relevance and alignment of the proposal with the purpose and objectives of the funding opportunity.
   2. Feasibility of the proposed research approach (including engagement of participants, project timelines, budget, etc.).
   3. Appropriate anticipation of difficulties that may be encountered in the research and plans for management.
   4. Quality and appropriateness of the applicants’ proposed plan for the consideration of EDI at all stages of the research process. This includes the incorporation of biological variables (e.g., sex, age) and/or sociocultural identity factors (e.g., gender, race, ethnicity, language, religion) into the activities proposed, where applicable.
   5. Addresses EDI in an informed and meaningful manner through engagement of diverse representation of individuals and/or groups (e.g., racialized populations, caregivers, historically excluded groups, etc.).

2. Applicants
   1. Evidence that the applicant(s) bring the appropriate expertise and experience to lead and deliver the proposed output(s) and achieve the proposed outcome(s).
   2. Quality and appropriateness of the research team’s commitment to engaging a diversity of members involved in the rare disease diagnosis pathway, in particular related to how they will address team composition and recruitment processes; research environment; training activities; and/or knowledge mobilization activities. Refer to the Best practices in Equity, Diversity and Inclusion in Research for additional guidance.
   3. If applicable, extent to which the overall team has the necessary knowledge, expertise and experience to work with Indigenous Peoples in a meaningful and culturally safe way.
   4. Evidence of the ability and commitment (both regarding the activities and allocated resources) of the research team to engage with racialized and marginalized communities in a meaningful and culturally safe way.
   5. Evidence that patient(s)/caregiver(s)/family member(s) are actively and meaningfully engaged in the project.
   6. Evidence to demonstrate the commitment of the research team to mentor and support the integration of Early Career Researchers as active members of the team.

3. Environment for the Research
   1. Suitability of the environment (academic institution and/or other organization) to support the proposed research activities, including availability and accessibility to personnel (including training and mentoring that foster EDI principles), facilities (including host institutions’ long-term commitment to the team’s research), and infrastructure.

4. Impact of the Research
   1. Clarity and significance of the proposed outcomes with respect to the optimization of the RD diagnosis pathway and its potential impact on patient outcomes in Canada.
   2. Extent to which the project will contribute to achieving the purpose and objectives of the funding opportunity.
   3. Quality and appropriateness of the proposed knowledge mobilization plan to facilitate the implementation, scale and spread of best practices for diagnosing RDs in Canada.
   4. Potential for a successful implementation of an optimized diagnostic approach and its potential positive impact on patient outcomes, health systems and practice of medicine.
   5. Extent of the role(s) and contribution(s) of all applicant partner(s) in advancing research objectives (if applicable).
   6. Proactive and meaningful consideration of partnership risks, including the extent of real and/or perceived conflict of interest and appropriateness of its management and mitigation (if applicable).

Funding Decision

The names of successfully funded applicants will be published on the CIHR website.

Partner and Internal Collaborator Participation

The opportunity to add new partners and internal collaborators to this funding opportunity may arise after publication. These partners and internal collaborators may not be listed; however, the principles that govern relevance review, including consent to share information and funding decisions, will still apply.

How to Apply

• The application process for this funding opportunity is comprised of one step: Full Application.
• To complete your Full Application, follow the “Specific Instructions” listed below, and where applicable, consult the Team Grants / Emerging Team Grants – ResearchNet “Application” Phase Instructions.
• All participants listed, with the exception of Collaborators, are required to:
  • Have/obtain a CIHR PIN
  • Complete the Equity, Diversity and Inclusion Self-identification Questionnaire.
• Organizations applying as Nominated Principal Applicants for the first time must contact CIHR’s Contact Centre for guidance in creating a ResearchNet account and registering for a CIHR PIN.
• When completing the application, applicants must protect the privacy and confidentiality of all team members. How an individual self-identifies is personal and confidential information, which should not be disclosed without consent.

Specific instructions to complete your ResearchNet application

Task: Identify Participants

• List all participants in the “Identify Participants” task. Consult the Eligibility section and ensure that all requirements are met. All participants, including partners, must also be listed in the Participant Table under the task "Attach Other Application Materials" below.
• All participants are required to submit a CV (excluding collaborators).
  • All Canadian academic applicants are required to upload a CIHR Biosketch CV.
  • Knowledge users, non-academics, Indigenous organizations, and international applicants have the option to submit either a CIHR Biosketch CV or Applicant Profile CV (maximum three pages per applicant). Each Applicant Profile CV may include 5-10 expertise keywords; a summary of the applicant’s education, current/past affiliations and employment/research experience with effective dates; and any other information pertinent to the participant’s role on the application.
  • Patient Written Statements: Key participants that fall in the patient/caregiver/family member group must include in their Applicant Profile CV a description of their relevant lived experiences in the context of the application.  
  • NPA categories involving an Indigenous non-governmental organization as an eligibility requirement must include in their Applicant Profile CV a description of the organization and how it meets the eligibility requirement of being an Indigenous non-governmental organization with a research or knowledge translation mandate.
  • Submit Biosketch CVs using the Canadian Common CV (CCV) interface. Submit Applicant Profile CVs by uploading the completed document, in the “Attachment” tab.

Task: Enter Proposal Information

• The Research Proposal must outline each of the elements presented in the evaluation criteria.
• Research proposals written in French will be allowed to submit additional pages, in support of evidence demonstrating that French documents require approximately 20% more space than similar English documents. Therefore, to ensure an equitable amount of space is provided, the following page limits will apply:
  • 10 pages for Research Proposals written in English;
  • 12 pages for Research Proposals written in French.
    Note: For Research proposals submitted in English, any pages over the 10-page limit will be removed with no further notification to the Nominated Principal Applicant.
• References, charts, tables, figures and photographs can be uploaded under "Attachments – Research Proposal Appendix".
• The research proposal should stand alone (i.e., it should contain all the information required to support your research plan and should contain a complete description of your project). All documents must be in PDF format and must adhere to the guidelines for attachments on the Acceptable Application Formats and Attachments.

Task: Complete Summary of Research Proposal

The summary must include a description of how your proposal aligns with the purpose and objectives of this funding opportunity. Note that your summary cannot exceed one (1) page.

Task: Enter Budget Information

• Complete the Budget Module in ResearchNet for the total requested budget following the task specific instructions outlined in the Team Grants – Application Guidelines.
• Provide a detailed budget justification explaining how the requested budget will be used for all planned activities and clearly justify all budget items (including cash and cash equivalent contributions, if relevant). Please follow the task specific instructions outlined in the Team Grants – Application Guidelines.
• For release time allowance, you must include a letter (upload as "Other Supporting Documents" and label each as "Release Time Allowance – Recipient’s Name") from the recipient’s organization certifying that the individual for whom the release time allowance is requested:
  • Is a knowledge user on the grant whose primary responsibilities do not include an expectation to engage in research (i.e., as part of their regular employment);
  • Has their organization’s approval for the research time on the project that would justify the allowance; and
  • Is engaged in the activities for which funds are being disbursed.

Task: Attach Other Application Materials

• Other – attach the following under “Other”:
  • Certificate of Completion of all relevant Sex and Gender Based Analysis training module/s - Labeled “SGBA Certificate – Name” (mandatory for the NPA and the Sex and Gender Champion if different from the NPA)
    • After completing the appropriate training module that applies to your proposal, you will receive a certificate of completion that you will save and upload here. The training module should take approximately 40 minutes to complete.
    • N.B. The certificate was previously issued as a secured document. If your certificate is secured, to successfully append the document to your application, you must upload an unsecured PDF copy. The certificate can be saved as an unsecured PDF by using print screen or by scanning the document.
  • Indigenous self-declaration and/or evidence of meaningful and culturally safe involvement with Indigenous Peoples statement – label as “Indigenous Experience – Name/Organization” (required if applicable):
    • As outlined in the Eligibility section, for any research applications involving Indigenous Peoples, the research team must include a minimum of one participant who self-identifies as Indigenous (First Nations, Inuit or Métis) and/or who can provide evidence meaningful and culturally safe involvement with Indigenous Peoples. A one-page document describing how they meet this requirement must be submitted.
  • Applicant Partner COI Document – Labeled “Applicant partner COI Document” (required if applicable): Describe the role of all applicant partners, how/if they will contribute to research and research related activities, and any consideration of risk and/or conflict of interest as appropriate (Maximum 1-page).
• Participant Table (mandatory) - upload under "Participant Table"
  • This table will be used for Eligibility assessment. In a table format with column headers matching the bolded titles below, provide the following information about all applicant team members:
    • Name (Last Name, First Name or organization);
    • Role of participant (e.g., NPA, PA, PKU, Co-applicant, KU, Collaborator);
    • Primary host institution/organization of each participant, where appropriate;
    • Alignment with Eligibility criteria, where appropriate (e.g., independent researcher, ECR, genetic counsellor, health economist, decision maker, policy maker, clinician scientist, healthcare professional, patient/caregiver/family member, sex and gender champion and EDI champion).
    • Expertise and Experience – Include a brief description of what each participant brings to their role on the application.

Task: Identify Application Partners — Upload Partner Information (required if applicable)

Application partners are defined as organizations, either identified by CIHR as mandatory or identified by the applicants themselves, that contribute cash and/or in-kind resources to specific projects of research, according to terms negotiated by the applicants.

• A “Partnership Details” form must be submitted for each partner providing cash and/or cash equivalent contributions.
• For each partner, upload a signed “Partner Letter” describing their role, activities, authorities, accountabilities, and contributions (including intellectual, financial [cash or cash equivalent] and other resources).

Task: Complete Peer Review Administration Information (optional)

• Applicants are encouraged to provide a list of potential reviewers (including patients/caregivers/family members) that have the expertise to review your application.

Task: Manage Access (optional)

• The Nominated Principal Applicant (NPA) can delegate access to a maximum of five individuals to support the completion of the application. Note: A delegate's access does not carry over from one stage of the competition to another (i.e., from the registration to the application stage). The NPA will need to delegate access at each stage of a competition. NPAs should revoke delegates' access prior to completing the Consent and Submit tasks if they do not want them to retain access to submitted applications via their Completed Activities tab. For more information, please see the Frequently Asked Questions (FAQ).

Task: Print Signature Pages

• Signature Requirements:
  • Signature of the Nominated Principal Applicant is not required for applications submitted through ResearchNet.
  • Signatures must be included for all other applicants (except Collaborators), and individual(s) with signing authority from the Institution Paid.
  • Original signatures are not required. The scanned signed signature pages and the Routing Slip must be uploaded in the Print/Upload Signature Pages task in ResearchNet prior to submitting your application.

Contact Information

For all inquiries, please contact:

CIHR Contact Centre
Telephone: 613-954-1968 
Toll Free: 1-888-603-4178
Email: support-soutien@cihr-irsc.gc.ca

For service hours, please consult our Contact us page.

Sponsor Description

Internal Collaborators

Canadian Institutes of Health Research
At the Canadian Institutes of Health Research (CIHR), we know that research has the power to change lives. As Canada’s health research investment agency, we collaborate with partners and researchers to support the discoveries and innovations that improve our health and strengthen our health care system.

CIHR – Institute of Genetics
The Institute of Genetics (IG) supports research on the human and model genomes and on all aspects of genetics, basic biochemistry and cell biology related to health and disease, including the translation of knowledge into health policy and practice, and the societal implications of genetic discoveries.

CIHR Rare Disease Research Initiative
As part of the Government of Canada's National Strategy for Drugs for Rare Diseases, this research initiative aims to advance rare disease research in Canada and maximize collaboration to improve the lives of those living with a rare disease and their families.

Additional Information

Administration of Funds

Funds will only be released to the institution or organization identified as the Institution Paid.  If the Institution Paid is not already authorized to administer CIHR funds, for the duration of the grant term, it may be required to undergo a financial and eligibility review and sign a funding agreement, or the successful applicant may choose to have their funds administered by a CIHR eligible institution. Please contact the Contact Centre to enquire about the process.

References

1. Aimé X, Charlet J, Furst F, Kuntz P, Trichet F, Dhombres F. Rare diseases knowledge management: The contribution of proximity measurements in OntoOrpha and OMIM. Stud Health Technol Inform 2012; 180: 88–92.
2. https://irdirc.org/resources-2/rd-metrics/