Each year, nearly 4 million babies are born in the US, and their dried blood samples have been used by scientists to study the severity and prevalence of rare genetic diseases that are being considered for addition to routine newborn screening panels. However, researchers no longer have ready access to these millions of samples since the country's Newborn Screening Saves Lives Reauthorization Act was signed into law late last year and went into effect on 16 March. Although the reauthorization renewed government funding to support newborn screening programs—allotting about $20 million per year from 2015 to 2019—updates to the law are stalling research on metabolic conditions such as Pompe disease and spinal muscular atrophy, and they are also slowing the development of new tests to identify these rare diseases in newborns.
Newborn screening research can inform clinicians and families about the true prevalence of rare diseases at a population level. For example, a study published last year using blood samples from more than 3 million babies in the US showed that the incidence of severe combined immunodeficiency (SCID) was nearly twice as prevalent as previously thought (J. Am. Med. Assoc. 312, 729–738, 2014 ). Although it was estimated that SCID affected 1 in 100,000 newborns, the study found the incidence to be closer to 1 in 58,000 births. SCID babies are born without a developed immune system, which makes them susceptible to a range of life-threatening infections very early on life. The sooner these babies are diagnosed and their immune systems restored by stem cell transplantation, the better the chances are of their survival.
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