NEW YORK (GenomeWeb) – The National Institute of Child Health and Human Development has committed $1 million to fund the creation of expert panels that will be tasked with selecting genes and genomic variants associated with diseases of interest to the agency, and determining their clinical significance and utility.
With the completion of the Human Genome Project and amid continued advances in genomic sequencing technologies, clinical genetic testing is becoming increasingly routine, and has led to the identification of many variants. However, according to the NICHD, the clinical relevance of many of these variants is unclear.
To help address this issue, the NICHD is establishing Genomic Clinical Variant Expert Curation Panels, which will select high priority clinical domains and then select candidate genes that are expected to have a high impact on clinical practice in these areas. The panels will then use the procedures and tools developed by the National Human Genome Research Institute's Clinical Genomics Resource and the National Center for Biotechnology Information's ClinVar to analyze relevant data and evaluate the strength of evidence supporting the clinical significance or actionability of the selected genes and variants. This work is expected to ultimately support the development of clinical practice guidelines.
Genes and variants examined by the panels should be associated with, but not limited to, reproductive and gynecological health, poor pregnancy outcomes, high-risk newborn conditions, intellectual and developmental disabilities, and susceptibility to infection.
The NICHD said it intends to support the creation of three panels with a total of $1 million in fiscal year 2017. Future funding will depend on annual appropriations. Additional details about the funding opportunity can be found here.