Cystic fibrosis is the most common fatal genetic disease in the country. However, advances continue to be made in screening and care. For example, Stanford University scientists recently announced that they have devised a DNA test that is more accurate and comprehensive in screening newborns for the disease.
What is Cystic Fibrosis?
Cystic fibrosis is a condition that causes mucus to build up in the lungs and pancreas as well as in other organs. This leads to frequent lung infections and often results in the need for lifetime treatment. Cystic fibrosis affects one in every 3,900 American babies, and the average lifespan of someone living with cystic fibrosis is 37.
Screening For Cystic Fibrosis
Newborns are screened for cystic fibrosis in every state, but screenings aren’t always accurate, which means that missed cases do occur. A baby that is misdiagnosed as not having cystic fibrosis won’t be treated, which means that the baby is at risk of dying because they weren’t properly diagnosed. According to researchers, the new method of screening for cystic fibrosis will not only be more efficient, but also more cost-effective. There’s also a chance that this new method will help improve screening for non-white babies, who are typically much more difficult to diagnose.
The disease is caused by a defect in the CFTR gene. The CFTR gene is what regulates the movement of water and salt from the cells of the body. Current genetic screens in the state of California look for 40 of the most common CFTR gene mutations in newborns, but there are at least 2,000 known mutations that could result in the development of cystic fibrosis.
The new screening method looks at the entire CFTR gene instead of just selected mutations. The test can be done by using a small amount of blood drawn from the newborn heel stick test that is already used for other disease screenings, thereby helping to reduce testing times and costs.
New screening methods could help cut down on missed cases of cystic fibrosis. Visit us at the Benefits Store today for more health news and for health insurance advice.