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Newborn screening

Population newborn screening began in the 1960s with the test for phenylketonuria (PKU).   While screening for PKU began much earlier with a rudimentary test called the Phenistix nappy test, it was thanks to American microbiologist Dr Robert Guthrie, that a more sophisticated process to screen for the condition followed. It used dried blood spots taken from the heels of babies a few days after birth, in a test widely known today as the heel-prick test. Mandated newborn screening programmes to test for PKU were rolled out across America, Europe and Australia throughout the 1960s.

Over the last six decades, newborn screening programmes have evolved into a truly revolutionary public health initiative. They can now identify serious health conditions in newborns, and through enabling access to much-needed early treatment, they have prevented untimely deaths and improved outcomes for countless children.

For all that, public consciousness and understanding of newborn screening is often limited—it is often described as an “invisible” public health programme. Invisible, perhaps; life-altering, certainly. But life-altering to different degrees. Its expansion has differed by country, and progress in some regions has been frustratingly slow. While Italy currently screens for nearly 50 conditions, the UK—often considered to be a forerunner in the life sciences—screens for just 9. In the US, 37 core conditions are recommended for screening at birth, but this varies state by state.

Screening for hundreds of conditions may become a reality in the not-too distant future, as genetic and genomic screening technology advances. But as the world looks on in anticipation, it is important to reflect on the underlying intention of population newborn screening: to create equitable outcomes for all. Ensuring that outcomes for children are not wholly dependent upon geography—as they often are today—must be a priority as this technology spreads.

In this edition we explore newborn screening programmes in America, Europe and Australia, highlighting the vital role they play in society. We look at the disparities and inequities that exist, the exciting research into genetic and genomic screening and celebrate the incredible work patients, charities, medical professionals and industry are doing to drive the conversation around this vital public health programme.

This edition is RARE Revolution’s first co-sponsored spotlight edition, which reflects the commitment by many organisations to advocate for and promote this important topic. The first International Neonatal Screening Day is on 28 June 2023—further recognition of the need to preserve, celebrate and champion this vital public health service, so that children the world over continue to have the best possible start in life.

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