While neurologists can potentially diagnose and treat newborn SMA without initial genetic blood tests, clinicians fear that damage may be irreversible by the time symptoms appear in patients.
“You might be able to prevent further damage, but you would not be able to get [the newborn] to previous capacity,” Columbia University researcher Wendy Chung explained. In October, Chung and her colleagues at Columbia performed a pilot study of population-based screening of 3,826 newborns for SMA in New York, finding that statewide screening is indeed feasible, and also recommending that SMA be considered for addition to the RUSP.
In the study, published in Genetics in Medicine, Chung’s team used a custom multiplex real-time qPCR assay running on Thermo Fisher Scientific’s Quantstudio 12K Flex platform and Applied Biosystem’s 7900HT system in order to detect the SMN1 exon 7 deletion in newborn patients.
“The point behind these [screening tests] is that we need to identify babies before they become symptomatic so that we we can preserve normal function rather than have compromised babies that can’t walk, eat, or live impaired lives,” Chung said.