Key Dates

Related Announcements

PAR-20-101 Genomic Expert Curation Panels (U24 Clinical Trial Not Allowed)

Issued by

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

Purpose

The purpose of this Notice is to provide additional information and new instructions for applicants interested in preparing a submission in response to PAR-20-101, Genomic Expert Curation Panels (U24 Clinical Trial Not Allowed). New content includes:

• An additional topic of interest for the National Cancer Institute
• An updated recipient for the optional pre-submission Letters of Intent and for all NICHD-specific inquiries
• New instructions about the Budget to clarify that support may be requested for project coordinators, biocurators, and bioinformatics specialists
• New instructions about the Research Strategy to specify that applications should clearly describe the type of Expert Panel being proposed, relationship(s) to existing ClinGen Clinical Domain Working Group(s), and the ClinGen approval status of their Expert Panel
• New instructions about the Research Strategy to specify that applications should describe how they will incorporate data from underrepresented populations into their proposed curation activities
• Instructions for how to obtain a Letter of Support from ClinGen, which applicants are strongly encouraged to include in their application
• A Financial/Grants Management Contact for the National Cancer Institute

Applicants are also encouraged to review the Frequently Asked Questions (FAQ) document with new content for 2021, which is available on the ClinGen webpage at:

https://www.clinicalgenome.org/docs/par-20-101-genomic-expert-curation-panel-funding-opportunity/, and also on the NICHD page at:

https://www.nichd.nih.gov/sites/default/files/inline-files/FAQsGenomicExpCurPanelPAR-20-101.pdf.

The following information in PAR-20-101 has been changed:

Part 2. Full Text of Announcement

Section I. Funding Opportunity Description

Currently reads:

• National Cancer Institute: Of interest to NCI are genes and variants potentially associated with inherited susceptibility to cancer development and/or to cancer response or resistance to therapy; these genes/variants should be curated across populations, with particular attention to underrepresented populations.

Revised to read:

• National Cancer Institute: Of interest to NCI are genes and germline variants potentially associated with inherited susceptibility to cancer development and/or to cancer response or resistance to therapy; these genes/variants should be curated across populations, with particular attention to underrepresented populations. NCI is also interested in somatic variants of clinical relevance for the diagnosis and treatment of cancer.

Section IV. Application and Submission Information

Letter of Intent

The letter of intent should be sent to:

Currently reads:

Melissa A. Parisi, MD, PhD
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Telephone: 301-435-6880
Email: parisima@mail.nih.gov

Revised to read:

Mollie Minear, PhD
Eunice Kennedy Shriver?National Institute of Child Health and Human Development (NICHD)
Telephone: 301-827-9442
Email:?mollie.minear@nih.gov

R&R Budget

Currently reads:

Funds can be used to support partial salary of the Expert Curation Panel chair and under exceptional circumstances the co-chair. Other panel experts can receive nominal consulting fees. In addition, funds can be used for meeting support including webinars and travel to face-to face meetings. It is expected that the PD(s)/PI(s) should attend the annual Curating the Clinical Genome Conference (https://www.clinicalgenome.org/about/events/curating-the-clinical-genome-2019/) and the PD(s)/PI(s) and key panel members and staff should participate in relevant ClinGen working groups, as appropriate. A primary emphasis of the budget should be on supporting a project coordinator, biocurator(s) and bioinformatics specialist(s). Costs associated with training on ClinGen tools, development of ClinGen informatics interface, and integration with ClinGen/ClinVar should be included in the budget as consulting fees, if needed.

Revised to read:

Funds can be used to support partial salary of the Expert Curation Panel chair and, if applicable, the co-chair(s). Other panel experts can receive nominal consulting fees. The primary emphasis of the budget should be on supporting a project coordinator, biocurators, and bioinformatics specialists. Both domestic and international Expert Panel members can receive nominal consulting fees. Funds can also be used for meeting support and travel to face-to face meetings and the annual?Curating the Clinical Genome?Conference (https://clinicalgenome.org/about/events/) by the PI and other appropriate members. There may be additional costs associated with training on ClinGen tools. Regarding budgeting for consultants, if they will not be conducting a substantive portion of the research, their fees will not be considered to be a sub-award, and therefore, no indirect costs would be involved. If they are conducting a substantive portion of the research, a sub-contract will be required. All costs, including indirect costs, come from the parent award.

PHS 398 Research Plan

Research Strategy:

Currently reads:

1. Describe the clinical domain(s) identified within the scope of priorities described by the participating ICs and identify the disease/disorder genes and/or variants selected for curation. Provide a justification for why this area is ready for analysis and why particular genes/variants were selected. Document their potential for clinical actionability.

Revised to read:

1. Describe the clinical domain(s) identified within the scope of priorities described by the participating ICs and identify the disease/disorder genes and/or variants selected for curation. Provide a justification for why this area is ready for analysis and why particular genes/variants were selected. Document their potential for clinical actionability.

Applicants can submit a proposal in response to this FOA to convene a Curation Expert Panel that is anywhere along the continuum of curation activities for genes and/or genomic variants, as long as the curation proposed is justified based on what is known about the disease(s) or condition(s) under study. Applicants are allowed to propose Expert Panels that will curate genes only, variants only (germline and/or somatic), or both genes and variants; if curation of both genes and variants is proposed, justification should be provided as to why both types of curation activities are needed.

Applicants are encouraged to clarify the status of their Curation Expert Panel in the application, including:

• The type of Curation Expert Panel (Gene Curation Expert Panel, Variant Curation Expert Panel, and/or Somatic Cancer Variant Curation Expert Panel);
• Whether the Expert Panel has a relationship to an existing ClinGen Clinical Domain Working Group (CDWG); and
• Whether they have already submitted an expert curation application to the ClinGen Clinical Domain Oversight Committee for approval and, if so, the status of their application and, if applicable, their approved curation activities.

For new Expert Panels that are not part of an existing CDWG, applicants should articulate plans to engage with the ClinGen consortium. For new Expert Panels that are being initiated from within an existing CDWG, applicants should describe the need for a new Expert Panel in their broad disease area. For established Curation Expert Panels, applicants should describe how the funding from this mechanism will enable them to expand their scope or scale their curation efforts.

Additional guidance can be found within ClinGen’s Guidelines for Applying for Variant or Gene Curation Expert Panel Status at: https://www.clinicalgenome.org/docs/guidelines-for-applying-for-variant-or-gene-curation-expert-panel-status/.

Currently reads:

5. Describe the procedures for gene-disease/gene variant assessments utilizing the ClinGen/ClinVar procedures and interfaces. Include the gene-disease/variant curation guideline development, curation review process and policies for resolving differences.

Revised to read:

5. Describe the procedures for gene-disease/gene variant assessments utilizing the ClinGen/ClinVar procedures and interfaces. Include the gene-disease/variant curation guideline development, curation review process and policies for resolving differences. To the extent possible, applicants are encouraged to describe how their proposed curation activities will include underrepresented populations.

Letters of Support:

Currently reads:

Letters of support from Expert Curation Panel members who are not listed as key personnel should be included in the Letters of Support Section.

Revised to read:

Letters of support from Expert Curation Panel members who are not listed as key personnel should be included in the Letters of Support Section.

Applicants are strongly encouraged to submit a letter of support from the Clinical Genome Resource (ClinGen;https://clinicalgenome.org/) with the type and status of their curation panel clearly defined:

• New Expert Panel that is not part of an existing CDWG.
• New Expert Panel that is being initiated from within an existing CDWG.
• Established Curation Expert Panel.

To request a letter of support from ClinGen, please email clingen@clinicalgenome.org with the subject line: Request for LOS for NIH GCEP/VCEP application, in response to PAR-20-101.

Section VII. Agency Contacts

Scientific/Research Contact(s)

The new recipient of inquiries directed to NICHD is:

Mollie Minear, PhD
Eunice Kennedy Shriver?National Institute of Child Health and Human Development (NICHD)
Telephone: 301-827-9442
Email: mollie.minear@nih.gov

Financial/Grants Management Contact(s)

The missing contact for NCI is:

Crystal Wolfrey

National Cancer Institute

Telephone: 240-276-6277

Email: wolfreyc@mail.nih.gov

These additions are effective immediately. All other aspects of this PAR remain unchanged.

Inquiries

Please direct all inquiries to:

Mollie Minear, PhD
Eunice Kennedy Shriver?National Institute of Child Health and Human Development (NICHD)
Telephone: 301-827-9442
Email: mollie.minear@nih.gov

Please direct all general inquiries about ClinGen to the NHGRI ClinGen team at: clingen@mail.nih.gov.