201510 NICHD Genomic Clinical Variant Expert Curation Panels

A request for applications (RFA) is proposed, entitled “NICHD Genomic Clinical Variant Expert Curation Panels” using the NIH Resource-Related Research Projects – Cooperative Agreements (U24) grant mechanism.


Genomic testing is becoming increasingly routine in clinical practice resulting in a large number of variants of unknown significance.  However, the lack of an openly accessible knowledge base that captures genetic variants, their phenotypic and functional effects, and other clinical information has been a limiting factor in the clinical and research use of variant information. Recently, NIH has created a clinical genomics infrastructure to develop an openly accessible and expertly curated knowledge base that will collate and classify genetic and genomic variants with regard to their clinical actionability through two initiatives: the Clinical Genomics Resource (ClinGen) supported by NHGRI, NCI and NICHD; and the NLM repository of clinically relevant genomic variants (ClinVar).  The NICHD Genomics Interest Group identified, as a high priority, the development of domain-specific expert working groups that will determine the clinical actionability of genomic variants for conditions of high priority to NICHD.  This RFA will solicit expert curation panels that will leverage the tools and informatics infrastructure provided by ClinGen.


The NICHD Genomic Clinical Variant Expert Curation Panels will identify variants of high priority to NICHD, will analyze all relevant data utilizing the ClinGen resources and determine the actionability of individual variants that will support clinical practice.  Of particular interest to NICHD will be applications that will establish clinical domain working groups to address the actionability of candidate variants in the areas of reproductive and gynecological health, pregnancy outcomes, high-risk newborn conditions, structural birth defects, intellectual and developmental disabilities, primary immune deficiencies and susceptibility to infections.  Specific aspects of the working groups will be developed by the NICHD Genomics Interest Group.


The objective of this RFA is to support expert panels that will identify candidate genes having a high impact on clinical practice, develop variant-calling rules for these genes, utilize the ClinGen/ClinVar tool kits and informatics infrastructure and provide supporting evidence for actionability assertions that will support clinical practice guidelines. Because the goal of this RFA is to review variants of high priority to NICHD, staff involvement will be key.  To that end a cooperative agreement mechanism is proposed.

Program Contacts

Danuta Krotoski, PhD
Intellectual and Developmental Disabilities Branch


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