The U.S. Food and Drug Administration will now allow the EnLite Neonatal TREC Kit, to be sold for screening newborns for Severe Combined Immunodeficiency (SCID), a group of disorders caused by defects in genes involved in the development and function of T cells and other infection-fighting immune cells. While infants with SCID appear normal at birth, they typically develop life-threatening infections within a few months. Without early intervention and treatment, death can occur within the baby’s first year; early detection and treatment can markedly improve survival.
According to the Centers for Disease Control and Prevention, approximately 40 to 100 new cases of SCID are identified in newborns in the United States each year. SCID is a group of disorders caused by defects in genes involved in the development and function of T cells and other infection-fighting immune cells. Babies with SCID appear normal at birth, but typically develop life-threatening infections within a few months. If left undetected they could die before their first birthdays.
“SCID is a fatal disease that can be treated with early intervention, including screening,” stated Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in FDA’s Center for Devices and Radiological Health. “For the first time, the FDA is allowing the marketing of a newborn screening test that will enable states to incorporate an FDA reviewed SCID test into their standard newborn screening panels and allow earlier identification for affected individuals.”
In fact, the Secretary of the U.S. Department of Health and Human Services and the Advisory Committee on Heritable Disorders in Newborns and Children now advise that all states screen newborn infants for SCID, among other genetic, endocrine and metabolic disorders. So far, 25 of them, as well as the District of Columbia and the Navajo Nation have implemented screening programs for SCID.
Testd using the EnLite Neonatal TREC Kit involve taking a few drops of blood from the newborn’s heel, which is then dried on filter paper and checked to see if T-cell receptor excision circles (TREC DNA), is low or missing from the baby’s blood. Those with SCID typically have zero or low amounts of TREC DNA compared to healthy infants. Additional testing is required to obtain diagnosis for SCID,
The EnLite Neonatal TREC Kit, however, is not intended for use as a diagnostic test or to screen for SCID-like syndromes, such as DiGeorge Syndrome or Omenn Syndrome. It is also not intended to screen for less acute SCID syndromes, such as leaky-SCID or variant SCID.