A new reference material issued by the National Institute of Standards and Technology (NIST) aims to make it easier for labs to ensure the accuracy of genetic tests.
The genomic DNA sample or reference material, NIST RM 8398, enables confidence in DNA sequencing tests, says Marc Salit, Ph.D., leader of the Genome-Scale Measurements Group with NIST’s Material Measurement Lab, and a consulting professor at Stanford University’s bioengineering department. Labs will be able to ask and answer the question: “You’ve sequenced my genome — how well did you do?”
“This benchmark sample will not only let scientists answer that question, but will enable technology development and optimization to make better measurements of genes and mutations, leading to more accurate diagnoses and safer and more effective treatments,” Salit told CLN Stat.
The new reference material accomplishes this by serving as a “measuring stick” for the human genome, an article in NIST Tech Beat explains. NIST RM 8398 “provides a well-characterized standard that can tell a laboratory how well its processes for determining the patterns in a person’s DNA (called DNA or gene sequencing) are working by measuring the performance of the equipment, chemistry and data analysis involved,” the article states.
“By having a benchmark sample that has been rigorously characterized, labs can assure that their processes are working as expected, that their equipment is functioning well, and that their staff are trained and capable,” Salit says. “When they run the reference sample and get accurate results, a lab that sequences DNA samples from patients who may be carriers of a genetically-linked disease can be confident that their reported results are accurate.”
Conceived by NIST and its partners in the Genome in a Bottle consortium, NIST RM 8398 is genomic DNA derived from an immortalized cell line. It is part of a collection of the National Institute of General Medical Sciences that’s maintained by the Coriell Institute for Medical Research, according to Salit. The cell line has been used in a number of public projects as a “reference point” that dates back to the HapMap project in the early 2000s.
“As such, there is a large quantity of open, public data available on this genome. Our customers and stakeholders in the Genome in a Bottle Consortium identified it as a best resource for piloting the development of reference materials and methods to be used to develop a more broad panel/portfolio of genome reference standards,” Salit says.
Labs and scientists can purchase the reference material from NIST for $450 per vial.