California’s Starring Role in Screening for Cystic Fibrosis

We’ve known for a while that the key to ensuring a richer quality of life for people with cystic fibrosis is early detection and treatment.

Of course, that’s much easier said than done. Fortunately, the last decade has seen a major push to zero in on the earliest of early detection: Newborn screening for CF. Today, those efforts are starting to pay dividends.

After the CDC recommended newborn screening in 2004 to help minimize the long-term side effects of CF, doctors, hospitals, and state agencies began falling into line. As the most populous state in the nation, California bought into the concept early. By 2005 it had instituted a comprehensive and aggressive screening program to identify the many CF mutations found in the state’s massive and diverse population.

The California Department of Public Health Genetic Disease Screening Program (GDSP) set up a cystic fibrosis registry, and researched different CF mutations and indicators found in the state’s main ethnic groups. Using that data, GDSP developed a unique model for newborn screening that used three steps of testing to identify individual CF indicators and mutations.

All that sounds good on paper, but does it actually work? Last month, the journal Pediatrics published a report looking at the program results for California’s CF newborn screening from 2007 to 2012. The report found that, of the more than 2.5 million newborns screened using the GDSP model, 345 CF cases were discovered. A further 533 cases of CFTR-related metabolic syndrome were discovered—which is not CF, but shares many of the same symptoms and is diagnosed when sweat chloride test results fall into a “borderline” range. The report also noted that 1,617 CF carriers were found, and 28 CF cases were missed.

So…what do all those numbers mean?

Bottom line, the screening’s success at detecting CF was a whopping 92%. Its success at positively predicting potential future cases of CF was 34%. The program also detected 303 CFTR mutations, including 78 brand new ones.

All in all, California’s process has been an outstanding success at detecting CF among newborns in the state. And that success means a better chance to get those CF babies the help they need earlier. Here’s hoping that other states will look to follow California’s lead!


Ronald Ledsen

Ronald Ledsen

After emigrating from his native Sweden, Ronald spent a stint in the Merchant Marines while trying to work out what he wanted to do with his life. He discovered a love of writing while helping a friend write anonymous Harry Potter fan-fiction online; he discovered meaning to his writing when he began journaling after an anxiety disorder diagnosis. Ronald is most relaxed when spending quiet time with his wife, two sons, and hyperactive cat.

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