I am grateful to have the opportunity of raising the important issue of the screening of babies in the first few weeks of life to detect cystic fibrosis. As cystic fibrosis is a bit of tongue-twister, I will refer to it as CF for the rest of this debate.
I first became aware of CF through my mother-in-law Della Luetchford who worked as a physiotherapist, specialising in the treatment of CF patients for more than 20 years. Della's experience of working with families affected by CF convinced her that screening for the disease at birth would mean early diagnosis and therefore early treatment for children. Early intervention is crucial to prevent unnecessary damage to patients' lungs in the long term, which helps to lengthen life span. Early diagnosis of CF also reduces emotional strains on families who otherwise suffer months or even years of uncertainty as they watch their children suffer.
Della's view that early screening is essential is shared almost unanimously by professionals working with CF patients, and the Cystic Fibrosis Trust has over the past five years run a campaign to achieve a national CF screening programme. For the benefit of the House, I should first like to explain a little about CF and its effects, as it is important to have a basic understanding of the disease to appreciate why early screening is so crucial.
CF is the UK's most common inherited life-threatening disease. It affects the internal organs--especially the lungs and the pancreas. At present there is no cure, and average life-expectancy for sufferers is around 30. Approximately 7,500 people have CF in the UK today, and every week five babies are born with the disease. Three young people die from CF each week, usually as a result of lung damage.
In simplistic, layman's terms, CF causes thick mucus to clog the lungs. Healthy lungs have small hairs called villae, which throw up any mucus that collects, acting as a daily self-cleaning process. In CF sufferers the mucus is abnormally thick and sticks to the villae, so that the cleaning process does not work. The mucus is also salty and kills off the good anti-bacteriological agent present in lungs, which prevents infections, so that CF patients are more prone to serious chest infections.
CF patients need daily physiotherapy to help clear this mucus and they require speedy antibiotic treatment to fight off infections. An added problem for sufferers is pancreatic insufficiency, which most babies born with CF suffer, and which means that their bodies do not produce the correct enzymes to digest food properly. Often CF babies will eat and eat and not thrive because the food passes straight through them. They become malnourished and, unless treated, will not have the strength to fight off the inevitable chest infections that they will suffer. That layman's version of the disease is important to our understanding of the debate.
Early CF diagnosis through screening means that treatment can begin immediately, and that has a major impact on the long-term prognosis for the patient. If a baby is diagnosed early, physiotherapy can begin straightaway and antibiotics can be swiftly administered, helping to prevent lung damage in the long term. Babies can also be fed artificial enzymes and given other appropriate nutritional treatments to ensure that they can digest their food and thrive. That helps to provide babies with the energy to fight off chest infections. If there is no screening programme for CF and if babies are not diagnosed until months or years later, there could be serious consequences.
Families often know--as parents and mothers do-- there is something wrong with their child but feel frustrated by continual GP and hospital visits with no clear diagnosis. I know of cases in which children were ill with CF for six years before it was diagnosed. The child may suffer continual chest infections, stomach aches and be unable to put on weight. Continual worry and anxiety without knowing the cause can put terrible pressures on family relationships. Late diagnosis can mean that repeat chest infections are not dealt with appropriately, leading to eventual lung-damage and reduced life expectancy.
Dr. Jim Littlewood, retired consultant paediatrician at St. James hospital, Liverpool and now chairman of the research and medical advisory committee of the cystic fibrosis trust, has had over 30 years experience of working with patients with CF from the UK and overseas. He is a passionate advocate of neo-natal screening for CF. In his personal submission to the cystic fibrosis workshop held at the institute for child health at University college, London last year, he explained why early appropriate treatment is vital for CF patients, as it enabled them to avoid reaching the point of no return. That point comes when a person moves from having CF to lung disease.
After the onset of lung disease there is chronic infection, inflammation and progressive deterioration. If the point of no return can be avoided or delayed, the patient can live longer and therefore have the benefit of any new treatments that are coming onto the market. That can make the difference between a person living from, say, 16 to 17 or 30 years, and in future, hopefully, life expectancy will become 40 or 50 or more as treatment for cystic fibrosis improves--as it is doing all the time.
Dr. Littlewood is convinced that early diagnosis, if it is followed by effective treatment, will avoid or delay the point of no return, and the role that neo-natal screening plays in this is obvious. I have no medical background but I have spoken to many professionals involved with CF care, and their argument has seemed like common sense to me. Why do we not screen babies at birth? Why do we not get an early diagnosis and ensure that their treatment starts immediately, rather than risking delays that can lead to lung damage and reduce life span? Is it because the screening process is very complex? Is it incredibly expensive? Would it require setting up major new facilities and investment in costly new technology? The answer, on all counts, is no.
It is very simple to screen babies at birth for CF. If parental permission is given, all babies currently take the Guthrie test--a simple heel prick to take blood that is tested for a range of diseases. Cystic fibrosis could be tested using the same blood, and we believe that that would cost around £2 for each baby. The experts--I mean the paediatricians, doctors, physiotherapists and people with years of practical experience of working with people with cystic fibrosis--are overwhelmingly convinced and determined that the screening should happen nationally.
The NHS health technology assessment programme issued a report on screening for cystic fibrosis in June 1999. It reviewed the results of 20 neo-natal screening studies, and concluded that in view of the low false positive rate and the low cost of the test, we conclude that each purchasing authority could consider providing neo-natal cystic fibrosis screening, either in combination with neo-natal screening or alone.
Professionals around Britain have seen and treated children, whom they know have sustained avoidable lung damage while awaiting diagnosis--damage that will shorten their lives. Some paediatricians were so appalled that they persuaded their health authorities to set up neo-natal cystic fibrosis screening programmes, and those operate in East Anglia, Trent, Wales, Leeds, Wolverhampton and Northern Ireland. Currently, the screening programmes cover only 23 per cent. of babies. Some 77 per cent., including my own twins who were born last year, are not covered. That is an example of the postcode lottery that our Labour Government have pledged to end.
We should bring other health authorities around Britain up to this standard by implementing a national screening programme. In fact, I know of one dreadful case that illustrates that point well. A pregnant woman lived equidistant from two maternity hospitals, one of which provided screening and one of which did not. She went to the one that did not. Her baby was born with CF, did not thrive and died seven months later, undiagnosed. She discovered her baby had CF only from the autopsy report. If the baby had gone to the other hospital, been screened and had the early nutritional and antibiotic treatment, the outcome might have been very different. Understandably, she is rather bitter.
Health authorities, however, were instructed not to set up any new neo-natal cystic fibrosis screening programmes until the UK national screening committee had produced its report on the issue. The child health screening sub-group, however, recommended, much to the dismay of those in the cystic fibrosis world, that neo-natal screening for cystic fibrosis should not be recommended. Those arguments, I believe, are not sufficient to prevent a national screening programme from taking place, and I should like to look at them briefly, in turn.
First, the group argued that there was a lack of evidence showing that early diagnosis by screening makes an important difference to the long-term outlook for a patient. Let us be clear about what is meant by that. That argument makes it appear that there is no evidence that screening babies gives any advantage over not screening. Many studies show, in fact, that screened infants have a better medical condition and better nutritional state, and that there is reduced cost from fewer diagnostic tests and less expensive treatment. There is also a benefit, clearly, to the families involved, by cutting out months, even years, of uncertainty before diagnosis. That gives those families the information that they need to make informed choices about whether to risk having any more children who may be born with cystic fibrosis.
It is almost impossible to come up with the pinpoint scientific proof that the committee appears to demand. It wants conclusive data from randomised control trials. Given long-term survival rates and improved treatment over the past decade, any new studies of that nature in the UK could wait around 20 years until selected screened and non-screened children had reached early adulthood. That would be a long delay in setting up a national screening programme. I am sure that the Minister would not see that as appropriate.
There is, however, as a counterbalance, a wealth of other medical evidence and studies. I do not have time to go into them all in detail, but some examples are a recent 10-year CF screening data from the New South Wales group, and a recent 13-year study from Wisconsin. There is also a 10-year screening study from Brittany. The French Government have introduced screening generally in France. Yesterday, I learned that the Government of the Republic of Ireland have decided to introduce a national neo-natal CF screening programme, much to the delight of that country's paediatricians.
I also have information of new evidence from the Cystic Fibrosis Research Trust, which I believe is highly significant. The trust runs the UK database, where consultants send anonymised information about CF cases that they have treated. It currently covers, I believe, around 6,000 cases. Research on that database has shown that if a child is not diagnosed and treated with the appropriate antibiotics early on, it is much more likely to develop chronic pseudomonas, which is a mark of possible early death. However, having antibiotics administered at the right doses early after diagnosis will prevent colonisation by pseudomonas. I believe that that is highly significant new evidence of which the Minister should be aware. The Cystic Fibrosis Research Trust will submit its evidence to the national screening committee imminently.
The national screening committee sub-group currently recommends more research. However, as there is now vast clinical experience of CF to draw on, we surely do not need yet another controlled trial to show that it is better to diagnose a life-threatening disease early, given that so much rests on effective treatment commencing as soon as possible.
Clearly, evidence-based science has brought us great benefits, but there are cases where common sense must be paramount. Sometimes the evidence of experience is as important as statistical data, and I feel that that may well be the case here. Perhaps we should hear what is being said by the people who know this disease best. For a start, Dr. Little wood says:
While conceding the lack of absolute proof of a favourable effect on long-term prognosis, if one considers all the available comparative studies, all tend to show some advantage for the screened infants ... From a clinician's point of view, the following complete the now unassailable case for neo-natal CF screening: the clinical facts, the present-day improved treatment which must be introduced early before chronic damage, the imminent prospect of more specific, even curative treatments, unlikely to help patients with advanced disease, and last but not least, simple common sense, and what we would wish for our children and their children.
If we insist on evidence, we must consider what happens when a child is not diagnosed early. What is the impact on families and the baby if there is no screening, no early diagnosis, and no early treatment? Surely that should carry equal weight. Who better to tell us than the parents involved? The Cystic Fibrosis Research Trust carried out a survey last year, and I would like to quote five parents who were interviewed. The first parent said:
Having two children with CF at a similar age, and on the same medication, X's health is far better than Y's. Y has had more infections, more hospital visits, her weight still isn't good and she gets more breathless. More importantly, Y has damaged her left lung which is from the first 10 months of her life being undiagnosed. But X's lungs have no damage so far, because her medication started at birth. The second parent said:
I am very angry that my son was not diagnosed earlier. If he was he could have avoided all the pain he went through. X was born and I was told I had a lovely healthy baby boy. Myself and my husband were overjoyed. However, this soon turned to misery as day after day we watched a chubby 8lb baby turn into a tiny skeleton; his skin had lost so much muscle that only skin and bone remained. When you picked him up he would cry in pain... Eventually at 12 weeks old they admitted him to hospital weighing just 9lbs; he was suffering from malnutrition. He had various tests done and a week later he was diagnosed with CF. We were devastated. A week later he went for a routine check and they found that part of his lung had collapsed due to the mucus.
The third parent said:
We feel extremely lucky that he had the screening. He is now a very healthy little boy, putting on plenty of weight with thanks to Creon and so far no chest infections due to regularly having his physio. My heart goes out to those families whose babies are not screened.
The fourth parent said:
I now look back and regret her late diagnosis and feel that as parents maybe we have let her down in not recognising a more serious problem earlier on. But maybe it was not us really but the system that let us down.
We were very disappointed, hurt and angry that Jamie was not diagnosed at birth because he was born in the wrong part of the country. No child should have to suffer like our child did. That says it all.
We should also know the opinion of medical experts in the field. When asked by the Cystic Fibrosis Research Trust about neo-natal CF screening, 96 per cent. of paediatricians who responded and 78 per cent. of physicians favoured it. Let us ask an important question: what should carry ultimate weight--clinical trials or the experience and opinions of parents, patients, paediatricians and health professionals involved in the day-to-day care of people with cystic fibrosis?
The second argument adduced against screening was that there is no laboratory or clinical treatment protocol, but that hardly seems a major hurdle. Professionals have made it clear that although the various laboratories that carry out the screening have developed their own variations on the IRT/DNA method, it would not be a major problem to unify them, if necessary. In terms of clinical treatment protocol, I am informed that the committee is misguided and that clinicians have a clear treatment protocol for very young infants diagnosed by screening. On balance, the case for a national neo-natal cystic fibrosis screening programme is overwhelming.
The national screening committee has said that the door is not closed and the child health screening sub-committee will continue to work with the Cystic Fibrosis Research Trust on a way forward. That is positive. There is also considerable support in the House for a screening programme. More than 100 Members signed the early-day motion tabled by Mr. Stunell. I am sure that a campaign run by the trust will attract considerable media and public attention. I invite the Minister to meet me, members of the trust and Dr. Littlewood, to listen to views and examine important new evidence.
Finally, there is the moral issue. Can it be right to prevent screening when common sense shows that it benefits children's medical condition, helps to prolong their lives and is of minimal cost and effort to the NHS? In the long term, it could even save the NHS considerable sums of money. It cannot be right to prevent that, and I believe that the Minister will decide to proceed with a cystic fibrosis screening programme in the near future.
I congratulate my hon. Friend Ms Kingham on securing the debate and raising such important issues. As she knows, cystic fibrosis is the most common genetic disease to be found in Caucasian children and affects about one in 2,500 children. It is a disorder of the mucus-secreting glands of the lungs, pancreas, mouth, gastro-intestinal tract and sweat glands of the skin. Symptoms include failure to gain weight despite a good appetite and repeated attacks of respiratory infections. Treatment is possible and consists of regular physiotherapy, drainage antibiotics and the taking of pancreatic supplements and vitamins.
There have been significant improvements in care and services for people with cystic fibrosis in the past 25 years, so that 75 per cent. of sufferers survive into adult life today. Two decades ago, only 12 per cent. of affected children survived into adolescence. Current life expectancy can be about 30 years, but it is rising as more effective treatment becomes available. Experts predict that those born in the 1990s may live for about 40 years.
As a result of our success in increasing the life expectancy of people with cystic fibrosis, we are developing a broader range of adult services. The Department of Health has charged regional offices with ensuring that effective and systematic arrangements are in place for commissioning specialised services and identifying local priority specialised services for a major review of service provision and commissioning arrangements. Five of the eight regions have prioritised cystic fibrosis in the regional specialised commissioning groups in their 2000-01 annual work programme.
My hon. Friend focused on neo-natal screening. We take cystic fibrosis seriously. We are extremely interested in developing ways to improve diagnosis and treatment. We are also continually assessing ways to improve antenatal and childhood screening to improve child health. I am keen to look further at possible improvements in children's health and health services.
The House will be aware that we recently announced new child screening programmes as part of the modernisation agenda in the national health service plan. We announced plans in the past few months to introduce a national screening programme for children with sickle cell and blood disorders and the piloting of universal neo-natal hearing screening so that we can implement nationally an early test for hearing problems. Both are significant advances. Both policy announcements were informed by the work of the United Kingdom National Screening Committee to review the research evidence and test the effectiveness of the screening programme.
We also turned to the NSC for advice on cystic fibrosis screening. It is chaired by the chief medical officer for Northern Ireland and advises Ministers in England, the devolved national Assemblies and the Scottish Parliament on all aspects of screening policy. In forming its advice, it draws on the latest research evidence and the skills of specially convened multi-disciplinary expert groups, which always include patient and service user representatives. A child health subgroup was established to look at the range of screening programmes for children and offer advice about stopping, starting and changing programmes and improving their quality. It assesses proposed new screening programmes against a set of internationally recognised criteria covering the condition, the test, the treatment options, and the effectiveness and acceptability of the screening programme.
Assessing programmes in that way is intended to ensure that they do more good than harm at a reasonable cost. We need to be sensitive to the fact that screening programmes can cause anxiety and distress, especially if they lead to large numbers of false positives. If many parents are likely to be told that their child has a serious health problem, when in fact they do not, the anxiety and distress that that could cause to those families needs to be taken into account when assessing the case for the screening programme.
The NSC is considering two forms of testing for cystic fibrosis: neo-natal and antenatal screening. I will return to the latter if I have time. I wanted to concentrate first on neo-natal screening, as that is the issue that my hon. Friend made the subject of her powerful speech. Screening newborns for cystic fibrosis can be done via the blood spot collected on the Guthrie card. Screening can lead to positive tests, which, after further tests, lead to a diagnosis being confirmed at a few weeks of age before any symptoms are apparent. Therapy can then start. Without the screening test, some cases are identified by presentation in the newborn period, such as bowel blockage. With increasing awareness of the disorder, many cases can be diagnosed at six to 12 months due to respiratory symptoms or failure to thrive. This often picks up most of the severe cases, which would benefit from early therapy.
About 18 per cent. of the population are covered by a neo-natal screening service for cystic fibrosis. The NSC has invested considerable energies in reviewing the case for introducing a national neo-natal screening programme for cystic fibrosis through reviews of evidence and workshops. Its assessment is that screening for cystic fibrosis is not as straightforward as some other screening programmes. There are different professional viewpoints. I am aware that some of those who are involved in screening are enthusiastic advocates for a national programme. I am also aware that others in the paediatric world are not convinced that the case is yet sufficiently proven.
The President of the Royal College of Paediatricians and Child Health, for example, believes that there is not yet sufficient evidence for the benefits of the screening programme. The NSC's advice to the Govt is that we should not yet move towards a national programme until we have more evidence of effectiveness. First, the committee argues that there is no direct evidence that the outcome is different for children in those parts of the country that have a screening programme and those that do not. It argues that, given that screening programmes can have harmful effects, usually psychological but also physical, clear evidence of benefit is essential before a new programme is established.
The health technology assessment, "Screening for Cystic Fibrosis" published in 1999, to which my hon. Friend referred, systematically reviewed the available evidence and was authored by some of the country's leading experts in the field. It stated:
The ability of screening to alter long-term prognosis has not been conclusively proven. The NSC concluded that it is not yet clear whether there is a benefit in finding newborn babies with cystic fibrosis through screening compared with identifying them through traditional diagnostic routes. It also points out that there is evidence to suggest that false positive cases can cause parents significant psychological harm. In addition, in some positive cases, over-dependence on drugs at an early stage may also have a negative impact. The NSC also concluded that there was no current consensus on which screening test was the best or agreement on its interpretation, that early treatment in milder cases may have limited benefit and possibly adverse effects, and that there are no quality management systems for a programme. It has kept the evidence base under constant review, including examining the international evidence.
I have considerable sympathy with the arguments of my hon. Friend and of parents and doctors, who are keen to have the earliest possible diagnosis of cystic fibrosis. I also have a responsibility to consider the evidence and, in particular, the advice of the NSC--the expert committee that we have set up to review the evidence. In the light of its central conclusion that there is insufficient evidence at this stage to justify rolling out a neo-natal screening programme, I have asked it to consider how those gaps in the evidence could be filled as rapidly as possible. I have also asked it to review its advice, on the basis of that evidence, in the next 12 months. The NSC is, therefore, working to extend the knowledge base on the issue to inform that review.
First, the NSC will be funding a study of the existing screened population to help clarify and quantify differences in the outcomes for screened babies and later presenting symptomatic babies, to ensure that we examine the fact that some areas have cystic fibrosis screening and others do not and to compare the outcomes for those areas. Secondly, it is undertaking a further review of emerging international evidence from Canada and the USA, in particular, the large-scale trial in Wisconsin, which is expected to offer new and robust material in the next 12 months. I understand that the Wisconsin trial is examining outcomes for those with cystic fibrosis identified through screening, and those identified through other diagnostic routes.
Finally, the NSC is working with the Cystic Fibrosis Trust and the key professional bodies to develop a strategy to improve awareness in primary care about cystic fibrosis and respiratory disease. The NSC will, therefore, be exploring methods of analysing routinely available data from the existing NHS service in more detail, but also collecting new data.
I appreciate my hon. Friend's argument that we should not set inappropriate evidence tests, but I also feel that we could gather considerable evidence in the next 12 months better to inform a decision on cystic fibrosis screening in babies. It is not acceptable for us to identify gaps in the evidence but not to attempt to fill them as rapidly as possible to ensure that we can make a fully-informed decision about cystic fibrosis screening in babies as quickly as possible. As part of that work, I will happily meet my hon. Friend and any delegation that she wishes to bring. She will appreciate that the Government have to make assessments on the basis of the evidence and that we have to ensure that we are providing evidence-based care, both for screening programmes and for treatment across the board. The Government are also happy to continue working closely with interest groups, such as the Cystic Fibrosis Trust, to raise awareness throughout the NHS.
I have set out the considerable work that has been undertaken, but also the work that we have set in train in the next year to improve our knowledge and progress this matter. Our aim is to ensure that all children with cystic fibrosis have the best opportunity to lead fulfilling lives, that their families receive support and that we remain committed to providing effective and appropriate screening programmes for children. I thank my hon. Friend for raising such an important issue and contributing to a stimulating debate, and I look forward to meeting her to discuss this subject shortly.
Question put and agreed to.
Adjourned accordingly at Two o'clock.