First-Ever DNA Sequencing Reference Tool Released

The National Institute of Standards and Technology (NIST) has release the world’s first “yardstick” to help ensure the accuracy of human DNA sequencing. The new tool, known as NIST RM 8398, allows laboratories to determine how well its DNA sequencing processes are working by measuring the performance of equipment, chemistry, and data analysis.

Laboratories can now use the DNA in NIST RM 8398 to identify biases and “blind spots” that can occur is sequencing. Using the new NIST standard as a benchmark, DNA sequencing laboratories can be more confident in their reporting of true positives, false positives, true negatives and false negatives. The reference material is the first complete human genome to have been extensively sequenced and re-sequenced by multiple techniques, with the results weighted and analyzed to eliminate as much variation and error as possible.

NIST worked with the U.S. Food and Drug Administration (FDA) to set up a group known as the Genome in a Bottle consortium to develop the tool. A NIST press release notes that new reference material marks a significant step forward in addressing FDA’s regulatory needs for evaluating next-generation gene sequencing and genetic testing as outlined in President Barack Obama’s Precision Medicine (also known as “personalized medicine”) initiative.

For more information, see the press release here. NIST RM 8398 is available from the NIST Standard Reference Materials Program