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Accuracy of Genetic Testing Technologies

To evaluate the accuracy of emerging fast and affordable genetic testing technologies that will enable medical treatments tailored to individual patients, scientists need a known DNA sequence. NIST’s reference materials provide benchmark genomes to ensure the accuracy of new, high-throughput DNA tests.

 

vertical columns of lines in bright colors
Credit: Credit: Gerald Barber, Virginia Tech (with permission of the National Science Foundation)
The end result of a DNA sequencing process. Each color represents one of the four base chemicals that make up DNA (adenine, guanine, cytosine and thymine). NIST?s new genome reference material is a standard that can help labs determine how well their DNA sequencing processes are working by evaluating the performance of the equipment, chemistry and data analysis involved.

NIST provides human genome reference materials to help laboratories using the latest fast, inexpensive gene sequencers determine the accuracy of their equipment, DNA processing and data analysis. The U.S. Food and Drug Administration used this reference material to approve one of the first commercially available, next-generation DNA sequencers for clinical use, making precision medicine more accessible.

NIST introduced the world’s first human genome reference material for next-generation gene sequencers in 2015. This genome was sequenced more than a dozen times by laboratories using different technologies, processing protocols and data analysis techniques. By testing the genome so many times, NIST made sure the sequence was accurate enough to be used as a benchmarking tool for medical and research labs.

NIST began this work at the request of gene sequencing market leaders, now members of the NIST-hosted Genome in a Bottle Consortium. NIST now offers three additional human genome reference materials to help testing laboratories assess their ability to measure genetic links within families and compare genes from people with different lineages. These reference materials also give companies reliable data to guide innovation in hardware, software and clinical research.