Juan Francisco Cabello, MD, on the History and Current State of Newborn Screening

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The head of the Pediatric Neurology Fellowship Program at the University of Valparaíso in Chile discussed positive impact of newborn screening so far and work that still needs to be done.

“Newborn screening started in the 60s in the United States [and was intended as an equity tool] because the idea was to offer to all the American citizens at the time a dual screening to test for congenital hypothyroidism for phenylketonuria. But over time, other developed countries—those in Europe; Japan; Australia—started with their own newborn screening programs. But there are many areas in the world still that have no newborn screening for any condition. So today, 60 years after, newborn screening is one of the worst examples of inequities in global health...”

Newborn screening enables doctors to detect and begin treatment of genetic and other inborn diseases in children before symptoms even appear. In some diseases, this gives a critically important advantage in preventing or mitigating symptoms before irreversible damage occurs. As gene therapy rapidly comes of age, with more treatments for genetic disorders being evaluated and approved every year, newborn screening is arguably more important than ever. Despite this, many countries around the world have not yet implemented newborn screening as a standard practice for any of the diseases for which screening is possible.

Juan Francisco Cabello, MD, the head of the Pediatric Neurology Fellowship Program at the University of Valparaíso in Chile, is giving a presentation on the importance of newborn screening at the 148th Annual Meeting of the American Neurological Association, held September 9-12, 2023, in Philadelphia, Pennsylvania. The talk, entitled, “Ethical considerations of newborn metabolic screening in international settings” will focus on the disparity of newborn screening practices around the world and how addressing this issue can improve global health outcomes.

In an interview with CGTLive™ at the conference, Cabello discussed the key points of his presentation and gave some background on the history of newborn screening and the current state of this practice in different regions of the world today. He noted that newborn screening started in the US as far back as the 1960s and emphasized the importance of newborn screening as a tool for health equity.

REFERENCE
Cabello JF. Ethical considerations of newborn metabolic screening in international settings. Presented at the 148th Annual Meeting of the American Neurological Association, held September 9-12, 2023, in Philadelphia, Pennsylvania.
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