In the world of diagnostics and treatment, change is usually a slow, gradual process. But so far, this is turning out to be a damn good year for anyone interested in speeding up the time it takes to diagnose cystic fibrosis (CF).
We just reported on a new sweat test that could let doctors detect elevated chloride levels in newborns within two weeks. Now comes word via The Stanford Daily that researchers at Stanford University’s medical school have developed a new screening test that can find nearly all mutations of the cystic fibrosis gene.
Stanford University [Source: Pixabay]Why is this a big deal? Like many diseases, CF may look the same in the symptoms it presents and how it attacks the lungs—but on a genetic level, deep in the DNA, the mechanism causing those symptoms can vary. The new screening test provides a fuller genetic snapshot and, perhaps most critically, does it in much less time.
When it comes to CF, faster diagnosis means faster treatment, which is essential to slowing the damage caused by the buildup of thick mucus in the lungs.Right now researchers have shown the test’s viability in the lab, and are trying to demonstrate it in a clinical setting as well—if they can do that, the state of California has the option to adopt it as the standard CF diagnostic method. And even if they don’t, it may yet pay dividends by testing for carriers and screening for other genetic conditions.
Either way, this CF test is just one more example of the exciting work going on right now to better understand and tame a disease that was once considered a death sentence for children. At this rate, who knows what developments we’ll see by the end of the year!