I was pleased to see an article in the New York Times today that the National Institute of Standards and Technology has developed "reference materials" laboratories can use to be sure they are producing accurate results. There have been real problems in the past particilarly with some private, for-profit labs. If lab results are not accurate whether they are for DNA or other tests, grave problems can result. For example, if a couple is told that their unborn child has a fatal disease there have been cases where a fetus was aborted and then found not to have the disorder. When I started practicing pediatrics, I found it was wise to send blood samples from the same child to two different labs. I was not surprised to get different results. When I moved to the Bay area, I followed the same practice and finally found labs I could trust.Talking to experts across the country about testing for specific muscle disorders was also a way to find out which labs were accurate and which were not. Metabolic disorders and mitochondrial disorders needed very special labs. I am not sure this has changed completely and have always advised parents to get a second opinion if a child has been given a diagnosis that could have serious problems.
One interesting statement in the New york Times article was by Dr. Jeffrey Shuren who is director of the F.D.A. Center for Devices and Radiological Health. He is quoted as saying that "Accurate tests have become more important as treatments are increasingly based on the type of mutations detected in genetic testing."