Scientists have identified hundreds of genetic mutations that appear to increase the risk of diseases, including cancer, Alzheimer’s and cystic fibrosis. But laboratories often report different results when they analyze genes obtained from samples of the same blood or tissue, because of variations in their testing equipment and methods.
The National Institute of Standards and Technology said Thursday that it had developed “reference materials” that could be used by laboratories to determine whether their machines and software were properly analyzing a person’s genetic blueprint, or genome.
The institute disseminates such reference materials for thousands of products including steel, concrete and peanut butter. These materials are used for myriad purposes — to calibrate instruments, to make sure buildings are safe, to ensure that nutritional labels are accurate.
“An inaccurate genome-sequencing test can lead to patients receiving the wrong diagnosis, the wrong treatment or no treatment at all, even when effective therapy is available,” said Dr. Jeffrey E. Shuren, director of the F.D.A. Center for Devices and Radiological Health. Accurate tests have become more important, he said, as treatments are increasingly based on the type of mutations detected in genetic testing.
Dr. Francis S. Collins, director of the National Institutes of Health, said that information from the tests could benefit patients in many ways. “For example,” he said, “an oncologist might use the results of a sequencing scan to choose the chemotherapy drug that is most likely to work.”
Read the full article here: http://www.nytimes.com/2015/05/15/health/new-way-to-ensure-accuracy-of-dna-tests-us-announces.html