We are in the age of genetic medicine, when genetic testing is starting to allow physicians to tailor treatments to individual patients. But how can scientists ensure the accuracy of the tests?
The National Institute of Standards and Technology (NIST) has announced that it has developed reference materials that can be used by genetic laboratories to determine whether their equipment and computer software are correctly analyzing a person's genome.
Labs will be able to use these new reference materials as benchmarks to ensure accuracy. The reference materials are DNA samples that are known. If the laboratory analyzes these materials and comes up with the correct mutations in the correct spots on the DNA, then their other work should be accurate as well.
The reference materials come from one person, a woman from Utah who is of European ancestry.
The machines that make genetic medicine possible are called DNA sequencers. They allow researchers to pinpoint mutations in an individual patient's genome and then devise treatments that are the precise fit for that patient's genetic characteristics. This area of medicine is also called precision medicine. But if the genetic sequencing of the genome is off even slightly, the patient may get a treatment that is not helpful.
Researchers know of hundreds of mutations in genes that appear to increase the risk of certain diseases, such as cancer, Alzheimer's, and cystic fibrosis. But different laboratories can come up with different results when they analyze samples of blood or tissue from the same person. The results will be close, but will not be identical because there is some variability in the equipment and methods used to do the testing. This is where having reference materials that are uniform can help standardize the technology.
Creating reference materials and setting standards for industry and research is what the NIST does. It has created standard reference materials that help calibrate instruments, make sure buildings are safe, and assure the public that nutritional labels are correct. The NIST is part of the U.S. Department of Commerce.
