Health policy

Since its inception BPSU surveillance data has influenced proposals in many areas of health policy. Following the establishment of the National Screening Committee in the early 1990s, the BPSU was seen as the perfect conduit for gathering evidence to help decide whether national screening on a number of conditions, particularly metabolic conditions, should start, end or continue.

In more recent years BPSU surveillance has had far reaching influence in UK health policy, including…

Medium chain acyl co-A dehydrogenase deficiency (MCADD)

Medium chain acyl co-A dehydrogenase deficiency (MCADD) is a rare genetic condition in which an individual has problems breaking down fatty acids for energy. It affects around 1 in 10,000 babies born in the UK each year, and is life threatening if not discovered early.

Two BPSU facilitated studies were undertaken by UCL Great Ormond Street Institute of Child Health in 1994 and 2004. Following the 1994 study, a recommendation was made to the NSC to pilot a screening. In February 2007, the Secretary of State for Health announced that screening of MCADD was to be added to the newborn bloodspot screening programme in England in a phased roll out. The BPSU was able to assist in monitoring the reliability of the screening programme. Since screening began, through reducing diagnostic delay and speeding-up intervention, around 60 lives have been saved and around 60 cases of long-term disability prevented.

Congenital adrenal hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a group of inherited conditions present at birth where the adrenal gland is larger than usual. In CAH the body is missing an enzyme that stimulates the adrenal gland to release cortisol. The 2007 study identified 132 cases (5/100,000 live births) of CAH. Though the timing of first clinical presentation suggests that almost 70% of babies presenting with salt-wasting crises could benefit from pre-symptomatic detection, screening was not felt appropriate. The study highlighted that test accuracy is poor and showed no improvement in mortality. This view was again endorsed by the NSC in their 2015/16 review which relied heavily on BPSU evidence.

Reye’s syndrome

Surveillance of Reye syndrome, a metabolic disorder of unknown origin, predates the establishment of the BPSU and was undertaken by the then Public Health Laboratory Service.

By 1986 an association with aspirin had been identified. The need to involve clinicians in reporting the condition led to the formation of the BPSU. The BPSU monitored the impact of warning the public not to give children under the age of 12 years aspirin if they had a flu like illness. However, though evidence showed a sharp decline in cases of young children, those of teenagers were still being reported. This led the MHRA to warn against giving aspirin to teenagers. Since then virtually no cases have been reported.

Congenital hypothyroidism (CH)

Surveillance of primary congenital hypothyroidism (CH) concluded its surveillance period in June 2012 with follow-up to June 2015. A baby with CH will experience serious learning problems later on in life. Data about CH diagnoses showed laboratories needed to use the same test when screening babies. Data about CH treatment also showed some children no longer need treatment by three years old.

This BPSU study found out how many babies in the UK each year have a positive blood spot (heel prick) screening result for CH. The study also helped find out how the screening test could be improved and since then changes have been made to the screening programme.

Find out more about the findings

Progressive intellectual and neurological deterioration (PIND)

Following the rise of Bovine spongiform encephalopathy (BSE) in the mid 1990’s, there was concern that the prion causing the condition could pass through the food chain to humans. With emerging evidence that this was the case the BPSU was approached by the Department of Health (DoH) to commence surveillance in 1997 for the condition in children. As the diagnosis is one of exclusion a case definition was developed that would identify all children with neurodegenerative conditions. Though the PIND study identified only six cases of variant Creutzfeldt–Jakob disease (vCJD), it has also provided information on over 1,440 cases covering nearly 200 rare neurological disorders. New findings on potential population susceptibilities to the disease (heterozygosity), contamination of blood products, surgical instruments and theoretically via vertical transmission has led the DoH to the view that surveillance should continue with the DoH reliant on the BPSU for monitoring the paediatric population.

Human immunodeficiency virus (HIV)

Since 1986 the BPSU has been the cornerstone of paediatric HIV surveillance in the UK and Ireland. Together with active obstetric HIV surveillance it has comprised a continuous and comprehensive dataset of pregnancies in women with diagnosed HIV infection, their infants and all resident children diagnosed with HIV since 1989. BPSU data has been invaluable in developing recommendations for the monitoring, screening and treatment of HIV, in contributing to modelling studies, and informing long-term planning and commissioning of services for the paediatric population living with HIV.