Cystic Fibrosis: Catching It Early

New cystic fibrosis screening test could catch the condition earlier

(RxWiki News) When screening for cystic fibrosis (CF) in newborns, time is of the essence. And a new screening test could cut the current wait time for results in half.

Researchers have developed a new CF screening test that they say could be faster and less expensive than the current method. An article published Feb. 4 in the Journal of Molecular Diagnostics described this test and how it works.

“The [tests] in use are time-consuming and don’t test the entire cystic fibrosis gene,” said senior study author Curt Scharfe, MD, PhD, of Yale School of Medicine in New Haven, CT, in a press release. “They don't tell the whole story.”

The current testing method looks at newborns' genes in a limited way, so that a "positive" result could require additional testing to confirm that the infant indeed has CF. This process can take as long as two weeks, according to a press release about this study.

The new test, said study co-author Iris Schrijver, MD, a professor of pathology at Stanford University, could produce accurate results in as little as one week.

“In our new [test], we are reading every letter in the book of the CF gene,” Dr. Schrijver said in a press release. “Whatever mutations pop up, the technique should be able to identify. It’s a very flexible approach.”

CF is a disorder that causes mucus to collect in the lungs and other organs. It can be fatal. That's why each US state has been screening for CF in newborns since 2010.

In the new test, doctors would take tiny samples of newborns' blood and make lots of copies of the genes in the blood samples. Larger amounts of DNA make for easier testing, these researchers said.

These researchers noted that these results are very early — the test isn't even patented yet. But Dr. Schrijver said the test will likely change the way doctors test newborns for CF, and that the test could work for a wide array of genetic disorders, not just CF.

But why does earlier diagnosis matter? Earlier diagnosis could mean faster medical intervention, which has been shown in past research to reduce some CF symptoms. These include growth delays, lung infections, airway inflammation and digestive problems.

The National Institutes of Health funded this research. The authors disclosed no conflicts of interest.

Review Date: 
February 6, 2016