# Genomic Expert Curation Panels for Pediatric Malignancies

> **NIH NIH U24** · WASHINGTON UNIVERSITY · 2024 · $268,374

## Abstract

Project Summary/Abstract
The goal of this proposal is to develop expert panels focused on curating evidence for the clinical application of
somatic mutations associated with childhood cancers. Tumors in the pediatric population have unique genetic
profiles that can affect their diagnosis, prognosis and treatment. There is currently a gap in representation
of somatic variants for childhood tumors in public cancer databases and knowledgebases. New
approaches for evidence curation are needed to identify important mutations in childhood cancers for both
diagnosis and therapy response. To address these gaps, our application builds on two prominent
developments in the field led by our team. First, as the ClinGen Somatic Clinical Domain Working Group
(CDWG) we developed the Minimal Variant Level Data (MVLD) standard to promote sharing and use of gene
variants in precision oncology. Second, we developed the Clinical Interpretation of Variants in Cancer (CIViC)
expert crowdsourced platform for somatic curation and clinical interpretation. Our goals are to: (1)
systematically catalog the clinical relevance of common, rare, and novel variants identified through
gene-specific and genome-scale testing in childhood cancers; (2) partner with ClinGen, ClinVar,
guideline-setting professional organizations, and other relevant global efforts to translate and present the
knowledge derived from genome researchers and clinical laboratories; and (3) develop informatics support for
variant assessment of clinical actionability, information display, interfacing with relevant databases, and
dissemination. To accomplish these goals we developed a collaboration over the past three years through the
ClinGen Somatic CDWG among researchers at Washington University, Georgetown University, and Children’s
Hospital Los Angeles that includes clinical and molecular geneticists, genetic counselors, bioinformaticians,
and genomic database experts to advance the use of genomic data in childhood cancers. Specifically, we will
establish pilot variant curation expert panels (VCEPs) to assess clinical relevance and actionability of somatic
variants in pediatric cancers. Our initial focus will be on two disease areas, with timely relevance, pediatric
malignancies with NTRK fusions and BCR-ABL1 (Philadelphia)-like B-lymphoblastic leukemia (Ph-like B-ALL).
We will adopt ClinGen’s existing VCEP policies and processes for assessing variants of strong clinical
significance, potential clinical significance, unknown clinical significance, and benign or likely benign variants in
childhood cancers. We will adapt and enhance the CIViC platform to support these expert panels. The CIViC
platform will also provide the curated evidence in standard formats for exchange of data with ClinVar and
ClinGen resources. Finally, we will seek FDA recognition for the evidence repository developed and curated
through this grant.

## Key facts

- **NIH application ID:** 10894229
- **Project number:** 5U24CA258115-03
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Malachi Griffith
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $268,374
- **Award type:** 5
- **Project period:** 2022-09-22 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10894229

## Citation

> US National Institutes of Health, RePORTER application 10894229, Genomic Expert Curation Panels for Pediatric Malignancies (5U24CA258115-03). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10894229. Licensed CC0.

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