The science helping babies get the right start in life

World Science Day 2026 is an opportunity to celebrate the role that science plays in improving lives. At LGC’s National Measurement Laboratory (NML), our collaborations with healthcare partners help tackle some of society’s most important health challenges. 

Newborn screening demonstrates the life-changing impact of measurement science, helping healthcare professionals identify serious inherited metabolic disorders shortly after birth. By enabling earlier diagnosis and treatment, these programmes can improve outcomes for affected babies and provide reassurance and support for their families. 

The power of early detection 

An early diagnosis can make a life-changing difference. Left undetected, some inherited metabolic disorders can lead to severe and irreversible health problems, including developmental delays, brain damage and other serious complications. By identifying affected babies quickly, healthcare professionals can begin treatment sooner, helping to prevent long-term harm and giving children the best possible start in life. 

Supporting consistency across newborn screening 

Many of these conditions are detected by measuring amino acids and acylcarnitines in blood spot samples collected shortly after birth. NML has worked closely with the South East Thames Regional Newborn Screening Laboratory, Synnovis, to support the comparability and harmonisation of these measurements. This helps ensure results remain consistent across the national screening programme, wherever a baby is tested. 

The partnership also extends beyond screening to the diagnosis and long-term management of inherited metabolic disorders. One example is phenylketonuria (PKU), a rare inherited condition that is commonly identified through newborn screening and requires lifelong monitoring of blood phenylalanine concentrations. Accurate testing is essential, as results guide dietary management throughout life. UK laboratories already take part in rigorous external quality assurance schemes, and NML’s work builds on this by providing an independent reference point that helps laboratories further strengthen the consistency of their results. 

Working in partnership with laboratory scientists from Synnovis and the NHS, NML has developed and provided a phenylalanine reference material, underpinned by internationally recognised reference measurement procedures and rigorously assessed through global interlaboratory studies involving measurement institutes around the world. 

This collaborative effort is helping clinical laboratories refine their testing methods and further strengthen the accuracy and consistency of their results. In turn, this supports greater confidence in diagnoses, more informed clinical decisions and better care for patients living with inherited metabolic disorders. 

Advancing measurement science for future generations 

The work continues. Through the UK Chemical and Biological Metrology Programme, funded by DBIST (Department for Business, Science, Innovation and Trade), NML is expanding its measurement capabilities to include other biomarkers relevant to newborn screening, such as acylcarnitines. These compounds help identify disorders that affect the body’s ability to convert fat into energy. Without early detection and treatment, affected babies can experience low blood sugar, liver damage, heart problems and, in some cases, life-threatening complications during illness or periods without food. With early detection and simple management, most children with these conditions grow up healthy. By improving the reliability of these measurements, NML and its partners are helping to strengthen newborn screening programmes and ensure more families receive the answers and support they need as early as possible. 

Dr Rachel Carling, South East Thames Regional Newborn Screening Laboratory, Synnovis, said: “Newborn screening can make a profound difference to the lives of children and their families. By working together to continually improve the quality and consistency of laboratory measurements, newborn screening laboratories and the National Measurement Laboratory are helping to ensure that babies and children receive the best possible care, from diagnosis through to lifelong management.”