Study Reveals Life-Saving Impact of Newborn Screening on Severe Combined Immunodeficiency (SCID)

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Researchers note that the introduction of extensive newborn screening for the fatal condition known as severe combined immunodeficiency syndrome, or SCID, and subsequent early treatment increased the 5-year survival rate for kids with the ailment from 73% before the introduction of screening to 87% since. 92.5% of kids whose condition was suspected due to newborn testing rather than sickness or family history endured treatment and survived for five years or longer.

These results show for the first time how newborn screening aided the early diagnosis of newborns with SCID, swift treatment when life-threatening infections developed, and consequently, an increase in the percentage of kids who lived to age five or beyond. The retrospective analysis was conducted by researchers at the National Institute of Allergy and Infectious Diseases (NIAID), a National Institutes of Health division. This study was published in The Lancet.  

Hugh Auchincloss, M.D., the acting director of the NIAID, stated that the study “clearly demonstrates that population-wide newborn testing for SCID has rendered it feasible to safeguard the life of more kids with the condition than ever before.” “We hope these results will motivate more nations to test newborns for this deadly disease.” National Institute of Health also reported that SCID is an uncommon condition brought on by gene changes essential for the growth and operation of immune cells that fight infections. At birth, infants with SCID seem healthy, yet they are prone to severe infections.

Unless the newborn receives an immune-restoring therapy such as a stem cell transplant, gene therapy, or enzyme therapy, the condition is deadly, typically in the initial year or two of life. Every year, between 40 and 80 infants in the U.S. and Canada are given the SCID diagnosis. Since most nations still need to screen for SCID, it is unknown how many infants are born worldwide with the disorder. In areas where inbreeding is expected, the incidence varies from 1 infant per 2,000 live births to 1 per 60,000 live births. 

In the past, several studies have hypothesized, but none have demonstrated, that population-wide newborn screening for SCID increases survival. Due to this, the Primary Immune Deficiency Treatment Consortium (PIDTC), which receives funding from the National Institutes of Health, set out to assess whether population-wide newborn screening for SCID had boosted the general survival of newborns with the condition.

The PIDTC, a component of NCATS’ Rare Disorders Clinical Research Network, comprises 47 centers in North America with the common objective of enhancing the health outcomes of persons with uncommon, lethal, inherited immune system illnesses. Despite improvements in clinical care, the five-year overall survival percentage for children with SCID who underwent stem-cell transplantation via non-genetically matched donors stayed at 72% to 73% from 1982 to 2009. Still, it rose to 87% from 2010 to 2018.

Of children who got transplants between 2010 and 2018 and whose disease was initially detected based on the results of newborn tests rather than illness or a family history of SCID, 92.5% lived to age five or more.  The study was supported by the National Institute of Allergy and Infectious Diseases (NIAID), the National Centre for Advancing Translational Sciences (NCATS), the National Heart, Lung, and Blood Institute, and the National Cancer Institute. 

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