By Barbara Feder Ostrov
Stanford University scientists say they’ve devised a more accurate and comprehensive DNA test to screen newborns for cystic fibrosis, the most common fatal genetic disease in the United States.
Affecting about one in 3,900 babies born in the U.S., cystic fibrosis causes mucus to build up in the lungs, pancreas and other organs, leading to frequent lung infections and often requiring lifetime treatment for patients, whose median lifespan is 37 years.
Every state screens newborns for cystic fibrosis, but the current sequence of tests can miss cases, threatening babies’ lives.
The new method described in a recent article in The Journal of Molecular Diagnostics, promises to be more efficient and cost-effective, researchers said. It may also improve screening for non-white babies, for whom cystic fibrosis is rarer and harder to diagnose.
The new method promises to be more efficient and cost-effective and may also improve screening for non-white babies in whom cystic fibrosis harder to diagnose.
Cystic fibrosis is caused by a defect in the CFTR gene, which regulates the movement of water and salt out of the body’s cells. In California, current genetic screens look for 40 of the most common mutations of the CFTR gene in newborns.
Yet any of the more than 2,000 known mutations in that gene could play a role in the disease, and there are likely others that have not yet been discovered.
The new test uses “next generation” DNA sequencing that can quickly and more cheaply look at the entire CFTR gene, not just selected mutations. It does not require an extra blood sample. Rather, it uses the tiny amount of blood drawn from the common newborn heel stick test that’s already used to screen for a number of diseases, including cystic fibrosis.
The researchers say this advance can enable testing labs to review many newborn samples at a time and reduce costs, allowing a technology previously used only to diagnose individual cases to be applied to a large population. Continue reading