Last month The New York Times reported that the National Institute of Standards and Technology (NIST) has developed a reference standard for use in DNA genetic sequencing. Specifically, NIST has made available genetic material that can be tested to confirm that a lab would find the known mutations in the proper places when sequencing the reference material. This would help assure the reliability of the testing at that lab.
By providing this testing standard, labs will be able to better demonstrate the reliability of their tests, which should stimulate demand for the tests, and may make insurance companies more likely to pay for them. This might help address the concerns agencies like the Food and Drug Administration have had about direct-to-consumer genetic testing – at least where reliability is concerned.
While this is the first NIST reference material for genetic sequencing, it has developed reference materials for other DNA tests and procedures. Those reference materials, developed by NIST’s Applied Genetics Lab, are usually smaller amounts of DNA, often produced via Polymerase Chain Reaction and targeted to tests looking at specific genetic sequences.