Gene Sequencing Reference Standard Increases Accuracy for Medical Laboratories

To reduce the variability in genetic test results that has been observed across different clinical laboratories and pathology groups, a new standard DNA reference has been introduced, which will improve transparency in the quality and accuracy of genetic test results produced by medical laboratories.

Even as scientists continue to identify genetic mutations that could cause various cancers and other diseases, such as Alzheimer’s and cystic fibrosis, studies have demonstrated that DNA test results from the same specimen can vary depending on which medical laboratory performs the whole-genome sequencing analysis.

The new standard DNA reference material developed by the US National Institute for Standards and Technology (NIST; Gaithersburg, MD, USA) has the potential to help DNA sequencing facilities to verify if their DNA test results are accurate. The new reference material, NIST RM 8398, was designed to improve the accuracy of diagnostic laboratories that analyze DNA using “next-generation sequencing" (NGS) technology.

By sequencing the standard NIST RM 8398 specimen, clinical laboratory technologists can compare their laboratory’s results with the NIST’s correct result. This would allow them to evaluate the performance of the laboratory’s next-generation sequencing equipment, as well as the chemistry and data analysis involved in producing a correct genetic blueprint of a subject’s unique genetic characteristics. The 10 microgram-vial of standard DNA material, which is from a Utah woman of European ancestry, is available on the NIST website for USD 450.

The new reference material, NIST RM 8398, is a benchmark for the human genome, the coded blueprints of a person’s genetic traits. It provides a well-characterized standard that can tell a laboratory how well its processes for determining the patterns in a person’s DNA are working by measuring the performance of the equipment, chemistry and data analysis involved. NIST RM 8398 was created in partnership with the Genome in a Bottle consortium (Stanford University, CA, USA), a group that includes stakeholders from industry, academia and the federal government.

DNA sequencing laboratories can be more confident in their reporting of true positives, false positives, true negatives and false negatives when using the new NIST standard as a benchmark. 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.

Related Links:
US National Institute for Standards and Technology 
Genome in a Bottle consortium