Precision Medicine

SUMMARY

The goals of precision medicine are to develop effective new drugs and treatments that are focused on the molecular basis (targets) of disease in humans. Humans are diverse due to their genetic backgrounds, lifestyles, and environments. Precision medicine is dependent upon the measurement of biomarkers of disease. Biomarkers for therapeutics can be targeted to the molecules that cause the disease. Biomarkers that change in response to the disease can be used to detect and monitor progress. The discovery of new markers and using them for diagnosis and treatments require specific and reliable measurements. Our division works with the stakeholders and external partners to provide the measurement infrastructure to support these measurements essential for achieving the promise of precision medicine to improve human health. We consult with the healthcare community to prioritize our work on the most relevant measurement issues, which helps ensure the products that enable targeted therapies and detection methods for human diseases are effective and safe. NIST provides measurement methods, reference materials, and interlaboratory testing to support these goals.

Programs and Projects to Support Precision Medicine 

Genome Editing Program and Consortium:  This program is designed to bring state of the art companies together to 1. Investigate specificity and measurements of off-target edits; 2. Provide data and metadata standards; 3. Establish a uniform lexicon for describing genome editing processes.

Human Genome Measurements, Bioinformatics, and the Genome in a Bottle Consortium: This program authoritatively characterizes NIST human genome reference materials to benchmark human genome sequencing and bioinformatics methods. An open consortium brings together the stakeholders to work together to improve the quality of genomic measurements.

Cancer Biomarker Measurements and Collaborations:  The cancer biomarker program provides the research and clinical community cancer biomarker measurement methods, data, and reference materials to ensure confidence and reliability. We are focused on biomarkers in the blood (liquid biopsy) for circulating cell-free DNA, methylated DNA biomarkers, and extracellular vesicles including microsome   

Quantitative Flow Cytometry:  This project develops measurement methods, reference materials, measurement service to achieve for cells and extracellular vesicles  for precision medicine measurements

Cell Line Authentication: This project is to establish measurement methods and data to confirm the identity of mouse cell lines used for research and production of biologicals and other species

Standards for Immunohistochemistry (IHC):  This project is a collaboration with Tuft’s University to provide a quantitative basis for IHC measurements, including the antibodies used for checkpoint inhibitors (anti-PD-L1) therapies for cancer.  

Development of Fully Consented Matched Tumor/Normal Cell Lines for Reference Materials:  A project seeking to collaborate with cancer research centers to establish fully consented matched normal and tumor-derived cell culture lines suitable for developing genomic NIST reference materials and commercial development.

Standards Development

NIST develops standards for precision medicine that can be used for the measurement assurance of assays used in basic research and in clinical laboratories. 

• DNA Reference Materials (RMs)
• Global Alliance for Genomics and Health Benchmarking Team

Stakeholder Engagement

NIST standards are developed in consultation with experts from industry, academic, and government laboratories

• NCI Early Detection Research Network
• Genome Editing Consortium
• Genome in a Bottle Consortium
• Flow Cytometry Consortium