Cystic fibrosis screens a HSE goal for 2008

The Cystic Fibrosis Association has said it is "delighted" with a commitment from the HSE to establish a neonatal screening programme…

The Cystic Fibrosis Association has said it is "delighted" with a commitment from the HSE to establish a neonatal screening programme for the condition later this year, writes Theresa Judge.

However, it is still unclear if actual testing of samples from newborn babies will begin in 2008.

The HSE said its 2008 service plan identifies such a screening programme "as a goal to achieve for this year".

However, yesterday a HSE spokesman said no further detail could be given at this stage about a timescale for delivery of the screening programme.

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A leading expert in cystic fibrosis (CF) and chairman of the association's medical council, Dr Charles Gallagher, said that screening was "a high priority for the cystic fibrosis community".

"Earlier detection, along with the resources needed to treat people, will definitely have very significant benefits both in terms of quality of life and I believe for life expectancy," Dr Gallagher said.

He said the introduction of neonatal screening would have "resource implications" as it would result in an increase in the numbers of children attending for treatment initially, but he believed the HSE was taking this into consideration.

Prof Andrew Green, a specialist in genetics at Our Lady's Hospital in Crumlin, said the screening would involve a number of different tests.

For parents of newborn babies there will be no additional tests, as the sample taken in the heel-prick test, currently carried out when the baby is aged 72-120 hours either in maternity wards or by community nurses, will also be used in the CF screening programme.

Prof Green said that just as with all screening programmes, it would not detect every single case. It is also not intended to detect whether an individual is a carrier of the CF gene, but just those with CF. However, a very small percentage of carriers would be detected, he said.

The screening will first involve an enzyme test and those samples with enzyme levels above a certain threshold would then be tested for the most common Irish cystic fibrosis gene mutations. If these gene mutations are detected only then would the child be called for a sweat test, a common test for CF. Some children who have the gene will not have the condition.

One in 19 people in Ireland carry the CF gene. In order for a child to be born with the condition both parents must be carriers. If two carriers have a child together, there is a one in four chance that the child will have full-blown cystic fibrosis and a two in four chance that the child will be a carrier. It is the most common inherited disease in Ireland and the rate here is believed to be the highest in the world.

Godfrey Fletcher of the Cystic Fibrosis Association said the lack of a neonatal screening programme - which was first promised in 2005 - was believed to be a factor in the low life expectancy in the Republic. The lack of specialist treatment units, on which the HSE last week gave new commitments, is also a major factor.

While the vast majority of CF cases are detected by age five, a minority of cases are not being detected until the child is even older.

The life expectancy of CF sufferers in Ireland is much lower than in the rest of the developed world. A person in the North can expect to live some 10 years longer - until their late 30s - than their counterpart in the Republic.

Mr Fletcher said advanced therapies and pharmaceutical products being developed in the US would mean that in the future people with cystic fibrosis should be able to live for much longer.

"The CF foundation in the US is now saying that they expect that by 2020 any child who is detected at birth can expect to live a near-normal lifespan," Mr Fletcher said.