NIH-Funded Study Highlights the Importance of SCID Screenings
According to a recent announcement, an NIH-funded study found that newborn screenings for SCID are essential for early diagnosis and prompt treatment.
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- An NIH-funded study in the Lancet highlighted the importance of newborn screenings for severe combined immunodeficiency (SCID). The study was a longitudinal analysis of 36 years of data from the Primary Immune Deficiency Treatment Consortium (PIDTC).
“This study definitively shows that population-wide newborn screening for SCID has made it possible to save the lives of many more children with the disorder than ever before,” said NIAID Acting Director Hugh Auchincloss, MD, in the NIH press release. “We hope these findings will encourage more countries to screen newborns for this devastating disease.”
According to the NIH, SCID is caused by gene mutations that impact immune cells. Although many children appear healthy at birth, a compromised immune system makes them more susceptible to severe and fatal infections. Each year, 40–80 babies are born with the condition in the United States and Canada. Data from the NIH states, “Incidence ranges from 1 infant per 2,000 live births in regions where inbreeding is common to 1 per 60,000 live births where it is not.”
Left untreated, the condition leads to death within the first two years of life. However, , gene therapy, or enzyme therapy can improve outcomes significantly.
The study collected data from 902 children across the US and Canada with confirmed cases of SCID. From 1982 to 2010, the five-year survival rate for children with SCID is 72–73%. It wasn’t until 2010 that survival rates rose to 87%.
In 2005, the NIH developed a newborn screening for SCID; however, states did not begin adopting the screenings until Wisconsin started utilizing it in 2008. By 2018, all US states, Washington, DC, and other territories were using the screenings.
A deep investigation by the researcher in the study revealed that, from 2010 to 2018, the five-year survival rate for children with newborn screenings that identified SCID improved to 92.5%. Comparatively, the survival rate of children diagnosed through clinical illness was 79.9% and 85.4% for those diagnosed through family history.
“Population-based newborn screening has facilitated the identification of infants with SCID early in life, in turn leading to prompt HCT while avoiding infections. Public health programs worldwide can benefit from this definitive demonstration of the value of newborn screening for SCID,” concluded the researchers in the study.
