EONIS Approved in US for Newborn Screening of SMA, SCID
PerkinElmer‘s EONIS system has been approved in the U.S. to be used by certified laboratories to simultaneously test newborns for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID).
The approval by the U.S. Food and Drug Administration (FDA) makes EONIS the first authorized test to be marketed in the U.S. for SMA screening in newborns.
PerkinElmer now will make the EONIS platform available throughout the U.S.
“For nearly three decades, PerkinElmer has delivered innovative solutions to laboratories and clinicians worldwide that help diagnose newborns with rare diseases and inherited disorders,” Petra Furu, general manager of reproductive health at PerkinElmer, said in a press release.
“This authorization is a major milestone for newborn screening in the United States. Labs across the country will be able to access technologies that detect SMA and SCID, and provide them the confidence that every test meets regulatory, manufacturing and accreditation requirements,” Furu added.
In December 2020, the EONIS assay received a CE marking from the European Commission for simultaneously testing newborns for SMA, SCID and X-linked agammaglobulinemia (XLA), another rare genetic disorder. The CE certification is a requirement for marketing products throughout the continent and other countries that accept the CE mark.
SMA, SCID, and XLA can be fatal if not detected early in infancy. This makes the screening process for these conditions essential so that infants who test positive can receive the care they need as soon as possible. Newborn screening for SMA has been shown to lead to better outcomes, as babies diagnosed can have prompt access to life-saving treatments.
EONIS is an easy-to-use kit that allows the detection of mutations that cause SMA and SCID. In SMA, the majority of cases (95%) are caused by mutations in the SMN1 gene, which affects the production of SMN, a protein essential for muscle health.
The testing process
The test uses a small dried blood sample collected shortly after birth, where the blood is dropped onto filter paper and subsequently dried for further use. This method of patient sample collection is advantageous, as it helps maintain the sample’s stability and allows for easy transportation.
The next step in the process of newborn screening of SMA and SCID is called “punching,” in which the spots blotted onto the paper are removed and prepared for further examination.
Following punching, the cells are processed and their DNA extracted, which is then analyzed by a lab technique called real time polymerase chain reaction (RT-PCR). This technique produces millions or billions of copies of a DNA sequence, which then can be “read” for several genes simultaneously — a process called multiplexing.
The EONIS kit is able to integrate with other PerkinElmer laboratory equipment, including the JANUS Liquid Handler, that allows for the automated preparation of solutions and reagents to save time and resources.
The JANUS device also is capable of performing steps in the EONIS process automatically, including the DNA extraction. Finally, the results are analyzed using a dedicated EONIS analysis software.
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