New Cystic Fibrosis Test Developed: Blood Test For Newborns Detects All Types of Mutations

Researchers developed a new way to screen newborns from cystic fibrosis.

Cystic fibrosis (CF) is a life-threatening condition. It is a genetic disease that causes persistent lung infections and limits one's ability to breathe, as per Cystic Fibrosis Foundation.

For people suffering from this condition, the defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs that clog the airways and trap bacteria causing infections, lung damage and respiratory failure.

MedicaXpress reported that this is the most common fatal genetic disease in the United States. In fact, it affected 30,000 people. A child will develop the disease when he inherits two mutated copies of the CF gene from each of his parents.

To detect the condition earlier, researchers from Stanford University developed a blood test to screen newborns for all types of cystic fibrosis. This process will help doctors begin early intervention or medication for the hereditary disease, UPI reported.

The new test is said to be more accurate in detecting a cystic fibrosis gene because it examines the entire CF gene. Moreover, it is not as time consuming as the previous versions.

"The assays in use are time-consuming and don't test the entire cystic fibrosis gene," said Curt Scharfe, MD, Ph.D, senior study author. "They don't tell the whole story."

"Cystic fibrosis newborn screening has shown us that early diagnosis really matters," added Iris Schrijver, MD, a co-author of the study and professor of Pathology at Stanford University.

The researchers used the dried blood spots taken for documentation when an infant is born. They also developed a new way to extract and make many copies of the CF gene from a tiny sample of DNA. The entire CG genes undergo high-throughput sequencing. This is the first time the team found a way to use dried blood spots for CF sequencing that typically requires more DNA.

Schrijver revealed that they read every letter in the book of the CF gene and whatever mutations pop up the technique should be able to identify it. She added that it was a very flexible approach.

The method was validated using 190 dried blood spots. It was 100 percent sensitive and showed a positive predictive value of 100 percent.

Each state will have to approve the test before it will be practiced widely. Stanford researchers are hoping to find similar methods for quick and accurate testing of other genetic conditions in babies.

"Ultimately, we would like to develop a broader assay to include the most common and most troublesome newborn conditions, and be able to do the screening much faster, more comprehensively and much more cheaply," Scharfe said.