UEA's key role in new CF screening drive

MARK NICHOLLS A pioneering investigation by Norfolk-based researchers has called for an end to postcode lottery screening for a life-shortening illness. At present, screening of newborns across England for cystic fibrosis (CF) is "patchy", with some areas not covered at all.

MARK NICHOLLS

A pioneering investigation by Norfolk-based researchers has called for an end to postcode lottery screening for a life-shortening illness.

At present, screening of newborns across England for cystic fibrosis (CF) is "patchy", with some areas not covered at all.

But new research involving UEA experts has shown that savings on treatment costs as a consequence of early diagnosis of CF more than offset the cost of establishing a screening programme.

The Department of Health (DoH) is now rolling out the programme across England, although it has been routinely available in Scotland, Northern Ireland and Wales for a number of years

Norfolk, Suffolk and other parts of East Anglia have a newborn screening programme as part of the routine heel prick test for infants, but it is not readily available in London, Manchester or parts of the south-west. The researchers want those gaps plugged as soon as possible.

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It has also emerged that early diagnosis of CF, coupled with treatment being started sooner, could add a decade or more to the lives of people who have the condition.

UEA researcher Dr Erika Sims said: "We are calling for every government in a country with a stable health care system to implement newborn screening for cystic fibrosis.

"What the research also shows is that patients diagnosed by newborn screening are substantially less costly than patients that are diagnosed on their symptoms."

Patients diagnosed on the basis of clinical presentation alone received therapy costing between 60pc and 400pc more than patients diagnosed by newborn screening. This was primarily due to more intravenous therapies.

Evidence from the research team backing up the economic argument for newborn screening, and calling for such programmes to be adopted internationally, is presented in The Lancet today.

CF screening hit the headlines in November 2006, when it was announced chancellor Gordon Brown's baby son Fraser had been diagnosed.

One in every 2,500 babies born in the UK has CF, with about 240 babies a year born with the life-shortening, hereditary lung disease every year.

Dr Sims said that it had been demonstrated previously that newborn screening was clinically beneficial to patients.

"They were healthier and taller and have less chest infections than patients diagnosed by symptoms alone," she said.

"Patients diagnosed by symptoms are diagnosed later and treatment starts later - whereas those picked up early start treatment earlier and have a better prognosis."

Without newborn screening the age of clinical diagnosis is variable from hours, days or weeks after birth through to adult life in mild cases.

Early treatment includes physiotherapy, enzyme tablets taken before food to help with digestion, antibiotics and inhaled drugs.

Some of the children picked up by screening will not have shown symptoms at birth, but treatment can still be started and early treatment has a significant clinical outcome.

"Life expectancy of CF sufferers in the UK is that 50pc live into their early 30s while with newborn screening and treatment, we believe that can increase to 50pc living beyond the age of 40," said Dr Sims, who worked with Dr Anil Mehta at the University of Dundee on the project.

Under the study, data from the UK cystic fibrosis database for 2002 was used 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.

The Cystic Fibrosis Trust was also involved in the project and its director of research, Alan Larsen, said the research illustrated the importance of newborn screening for CF.

Mr Larsen said: "We have campaigned for many years for all babies to be screened for CF at birth as part of the heel prick test.

"It is recognised that if babies are diagnosed and treated before they become symptomatic, they have a longer and better quality of life.

"At present, around two thirds of babies born in the UK are tested for CF. We hope that from mid-2007, all babies will be tested ensuring they have the same opportunities for early treatment."

A DoH spokesman said that it was more likely to be the end of 2007 before a universal newborn screening programme for cystic fibrosis was rolled out across England. He said: "It is essential that we get the right test, correct protocols and standards in place before we can get a first rate service operating. This inevitably takes time.

"Roll out in England has been more complicated than the other three countries, because of its size, the number of laboratories involved at the different stages of the programme and deciding on the most effective protocol for hospitals."