06 April 2007

Study recommends universal newborn screening for cystic fibrosis

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Newborn screening for cystic fibrosis saves on treatment costs and would offset the actual costs of the screening programme, a new report from the Universities of Dundee and East Anglia shows.

This new economic evidence suggests that universal newborn screening programmes for cystic fibrosis should be adopted internationally, according to an Article in this week's issue of The Lancet.

Cystic fibrosis remains a life-shortening hereditary lung disease, but effective treatments are available. In some regions newborn babies have been screened for cystic fibrosis for more than 25 years, and early diagnosis is associated with improvements in some clinical outcomes*. Furthermore, the clinical benefit of those screened as newborn babies is associated with a lower treatment burden compared with clinically diagnosed groups. Whether these potential cost savings attributed to reduced therapeutic requirements would offset the cost of a newborn screening programme had not previously been studied.

Cystic Fibrosis screening hit the headlines in November 2006, when it was announced Chancellor Gordon Brown's baby son Fraser had been diagnosed. Babies are routinely screened for the condition in Scotland (since 2003), Wales and Northern Ireland, but this is not yet the case for all areas of England including London.

Erika Sims (University of East Anglia, Norwich, UK) and colleagues from the University of Dundee, UK, led by Dr Anil Mehta, used data from the UK cystic fibrosis database for 2002 to compare the treatment costs of 184 children aged 1-9 years who had cystic fibrosis that was identified by newborn screening with those of 950 children in the same age-group, who were identified after clinical presentation of the disease. Patients diagnosed by newborn screening cost significantly less to treat than those who were diagnosed clinically. Patients diagnosed on the basis of clinical presentation alone received therapy costing an estimated 60-400% more than patients diagnosed by newborn screening**.

The authors conclude: "Newborn screening is associated with lower estimated treatment costs and reduced hospital admissions for invasive therapy, which suggests that indirect costs and disruption to family life will also be less. Furthermore, the potential cost savings to the yearly treatment budget could offset some, if not all, of the costs of a newborn screening service".

In an accompanying Comment in The Lancet, Bridget Wilcken and Kevin Gaskin (both of the Children's Hospital at Westmead and University of Sydney, NSW, Australia) state: "If clear clinical benefit does not always persuade governments to implement screening, cost benefits might...Some parts of the world-e.g. the middle east and possibly India-have a high frequency of cystic fibrosis, and screening might have potential in countries with a stable health-care system."

Previous research by the team, published earlier this year in the journal Pediatrics, showed that babies need to be in treatment programmes for Cystic Fibrosis before they reach two months of age to ensure the best possible future health.

Children diagnosed early by newborn screening have better growth, less lung disease and need fewer treatments than children diagnosed later after they develop symptoms, according to the team’s research.

A key finding of this earlier research showed that newborn screening and early treatment of the disease may slow progression of Cystic Fibrosis lung disease. "We have shown a marked difference in the effect on a baby even between being diagnosed at two rather than three months. Their lungs are developing so rapidly at that stage that being diagnosed earlier can make a huge difference to their future health, if treatment is administered quickly and effectively," said Dr Mehta, Reader in Child Health in the Department of Maternal and Child Health Sciences at the University of Dundee.

The research showed that there were significant health benefits up to the age of nine years in those children who had been diagnosed by newborn screening. Dr Mehta said there was "a very good chance" that this benefit could extend into their adult lives having shown in previous research that women with cystic fibrosis who become pregnant fare much better if they had been diagnosed early by newborn screening as babies.

"Cystic Fibrosis is a disease that typically requires extremely arduous treatment. Anything we can do to reduce that level of required treatment and make children’s lives more comfortable must be pursued, and newborn screening and early treatment for children will achieve that," said Dr Mehta.

Dr Anil Mehta has worked in Cystic Fibrosis research for 20 years, and heads the European Union-funded Cystic Fibrosis Database based at the University of Dundee.

The research was funded in part by the Cystic Fibrosis Trust.

Notes to Editors

* Without newborn screening for cystic fibrosis, the age of clinical presentation (or clinical diagnosis) is variable, with some patients presenting with symptoms within hours or days of birth (eg, meconium ileus), weeks of birth (eg, failure to thrive), or in mild cases, in adult life (eg, recurrent respiratory infection).

** The higher treatment costs in the clinically diagnosed group are mainly driven by the greater use of intravenous therapies in these patients.

1. Further Information:
EuroCareCF database:

European registry
http://www.eurocarecf.eu/index_files/Page739.htm

European registry newsletter
http://www.eurocarecf.eu/index_files/EuroCareCF_European%20Registry%20Newsletter.pdf

2. The research used patient data collected by the UK Cystic Fibrosis Database from children aged between 1 and 10 years attending specialist cystic fibrosis centres across the UK between 2000 and 2002.

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