Researchers at the Stanford University Medical School have developed a new test for cystic fibrosis, a genetic disorder that causes a buildup of thick mucus in the patient’s vital organs. This new test screens for the disease with unprecedented rates of speed and accuracy.
The test allows doctors to extract DNA from tiny drops of blood and screen it for the genetic mutations that cause the disease. Unlike previous methods, which tested part of the cystic fibrosis gene, this new screening can detect virtually all of the mutations that cause the condition. Additionally, it halves the time taken to identify the disease and helps prevent missed diagnoses that delay a child’s ability to start vital treatment.
Rapid identification and response is crucial in fighting cystic fibrosis.
“Cystic fibrosis newborn screening has shown us that early diagnosis really matters,” said Iris Schrijver, a co-author of the study and professor of pathology at Stanford.
“When the disease is caught early, physicians can prevent some of its complications and keep the patients in better shape longer,” Schrijver continued.
Cystic fibrosis predominantly damages the lungs, where it impedes breathing and causes frequent infection, but it also affects the kidneys, intestines, liver and pancreas. There is no known cure, but with correct treatment and the advancement of medical technology, patients can now expect to live into their 40s.
In order for the new test to be widely adopted, Stanford researchers will have to prove that the reliability it showed in the laboratory can be replicated in the clinic. California state officials will then have the opportunity to decide whether they want it to replace older screening methods. The whole process should take less than a year.
“Regardless of how the state decides, the new technique can be widely adopted in different settings,” Schrijver said, noting that the technique could also be used for carrier and diagnostic testing and to screen for other genetic diseases, not just cystic fibrosis.
If this is the case, the new test could mean good news not just for cystic fibrosis patients, but for sufferers of a range of genetic diseases across the country.
Contact Bobbi Leet at dillonl ‘at’ stanford.edu.