NIST's reference materials help to ensure the accuracy of DNA tests used in precision medicine, an approach in which diseases are treated or prevented based on an individual's lifestyle, environment, and genetic profile. We have experts working on the most pressing genomic measurement issues including genome editing, human genome sequencing, cancer genomics, and metagenomics. For example, NIST led the development of the world's first and only whole genome reference materials with the Genome in a Bottle Consortium; these authoritatively characterized human genomes available provide laboratories with the capability to accurately “map” DNA for genetic testing, benchmark sequencing technologies and bioinformatics, medical diagnoses, and future customized drug therapies. Th U.S. Food and Drug Administration used this resource to approve one of the first commercially available next-generation DNA sequencers for clinical use, making precision medicine more accessible. NIST's cancer biomarker reference materials help researchers and clinicians establish analytical validation of their measurement processes. The reference materials are developed in consultation with cancer experts from industry, academic, and government laboratories. The NIST-led Genome Editing Consortium aims to address the measurements and standards needed to increase confidence and lower the risk of utilizing genome editing technologies in research and commercial products.
Current Activities and Products:
- Genome Editing Consortium – measurement solutions and standards to support innovation and products in the genome editing technology space.
- Cancer Biomarker Reference Materials
- SRM 2373 – Genomic DNA Standards for HER2 Measurements
- RM 8366 – Copy Number Standards for EGFR and MET
- Circulating Cell Free DNA Standards – developing reference material that contains normal and allelic DNA to measure single nucleotide variations, fusions, and epigenetic markers.
- Total RNA Cancer Reference Samples – Set of total RNA material from NCI/EDRN that can be used to benchmark miRNA datasets for biomarker discovery.
- Microbial Genomic Reference Material
- RM 8375 - vials of genomic DNA from four different bacterial strains, ranging in genome size and GC content to best challenge DNA sequencing technologies
- ERCC Standard Reference Material
- SRM 2374 – RNA spike-in controls, composed of a set of 96 DNA templates used to make ERCC RNA control molecules.