Sequencing of Your DNA May Reveal a Latent Risk for Developing Cystic Fibrosis

Posted on July 27, 2016 by Disability Help Group

Medical research has already established a known genetic mutation involved in the development of cystic fibrosis (CF). Now, a new study by Children’s Hospital Los Angeles, Brigham and Women’s Hospital, and the California Department of Public Health is looking at the role of a secondary mutation in the later-life development of CF.

The 5T allele gene is a second gene mutation present in babies that alone presents only a mild risk for CF. When paired with the severe CF-causing mutation, the risk of CF development later in childhood increases. Approximately one in 10 people carry this gene variant.

Current national screening standards for CF do not take this latent gene mutation into account. Therefore, newborns often pass the test at birth, only to develop CF later on. Doctors commonly miss the 5T allele in Hispanics and African Americans due to the standard panels based on mostly Caucasian samples.

The State of California is working to include full-panel CF testing including DNA sequencing to identify CF Transmembrane Conductance Regulator (the gene responsible for the development of CF) and the lesser-risk genetic mutations like the 5T allele.

With a more robust screening for CF, doctors can catch risk of CF earlier and monitor the child carefully for the onset of symptoms. The earlier doctors detect the disease, the better the child’s outcome will be thanks to early intervention and treatment.

Cystic Fibrosis Can Cause Lifelong Disability

Anyone from newborns to adults diagnosed with CF can seek disability benefits if their CF impairs their ability to thrive and eventually earn a living. The Disability Help Group helps parents of children with CF and adults unable to work due to the disease seek benefits through the Social Security disability program.

To schedule a free consultation with one of our disability advocates, give us a call today: 800-800-2009.