BBC BLOGS - Fergus's Medical Files

Archives for September 2010

The genetics of ADHD

Fergus Walsh | 09:31 UK time, Thursday, 30 September 2010

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There is a danger of reading too much into new research in the Lancet on attention-deficit hyperactivity disorder (ADHD). The headline of the Lancet press release says: "Study is the first to find direct evidence that ADHD is a genetic disorder". One of the authors, Professor Anita Thapar is quoted as saying: "Now we can say with confidence that ADHD is a genetic disease and that the brains of children with this condition develop differently to those of other children".

That's that then. Or perhaps not. Because those bold claims do not seem to be borne out by the actual research paper. The study analysed DNA from 366 children with ADHD and 1,047 controls. They found that those with ADHD were twice as likely to have chunks of DNA missing or duplicated, areas known as copy number variants. This genetic variation was also found to be more common in brain disorders.

I have done the sums and around 15% of the ADHD children had the genetic variant and about 7% of the control group did not. Put that another way, it affected one in seven of the ADHD group and one in 14 of those without.

That also means that seven out of eight of the ADHD group did not have the genetic variant - which hardly justifies Professor Thapar's confident assertion that ADHD is a genetic disease. I put this to Professor Thapar and she was keen to stress that she was not asserting that genes alone were responsible for ADHD but rather a complex mix of genes and environmental factors.

On the Today programme, the clinical psychologist Oliver James tore into the research and made accusations of "massive spin".

Professor Thapar said that ADHD could not be dismissed as being down to bad parenting or poor diet. She hoped the research would remove the stigma associated with the condition. The trouble with the Lancet press release is it appears to remove parenting and the environment from the equation; something which Professor Thapar told me was not her intention.

Professor Tim Kendall a consultant psychiatrist and a leading expert on ADHD, was also troubled by bold assertions which labelled the condition as genetic. He said there was a danger that giving a biological explanation to ADHD would encourage clinicians to rely on a biological answer, namely drugs like Ritalin. Just two years ago doctors were urged by NICE not to rely on Ritalin alone. Support and training for parents and teachers were flagged up as of key importance in helping children control the condition.

Professor Kendall also gave a long list of environmental factors which he said can increase the risk of ADHD: smoking during pregnancy, pre-natal stress, abuse during childhood, marital breakdown and poverty. He also pointed to twin studies and other research which suggested a genetic element to the condition.

Like many disorders, there is no simple cause behind ADHD. Simply blaming poor parenting is surely as bad as saying it's all down to our genes. Parents of children with ADHD would prefer help rather than labels.

Are biodegradable stents the future?

Fergus Walsh | 20:00 UK time, Tuesday, 28 September 2010

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10 or 20 years from now, will metal stents be a thing of the past? It's a question that comes to mind after the first patient in the UK had a biodegradable stent fitted which also releases a drug to prevent the artery narrowing.

Stents are tiny tubular scaffolds and they have overtaken bypass graft surgery in terms of popularity for treating clogged arteries. About four stent procedures are done for every bypass. The latter procedure is invasive, but some surgeons argue that it is better for many patients.

There have been big improvements in the success of stents over the years. Angioplasty, where a balloon is inserted to clear a clogged artery, needed repeating in about 35% of cases. Bare metal stents, which prop open the artery, came in the 1990s and brought failure rates down to 15%. More recently, stents which release drugs to prevent the artery from narrowing reduced the rate of recurrence to around 5%.

The figures above come from Professor Tony Gershlick. A cardiologist, he inserted the new biodegradable stent in a patient at Glenfield Hospital in Leicester.

This is not the first dissolving stent - there've been trials of a biodegradable magnesium scaffold and while successful, it did not show huge benefits over existing devices.

Abbott's "bioresorbable vascular scaffold" is a drug-eluting (drug releasing) stent. It's actually four years since the first patient - in New Zealand - had one fitted, and there is trial data on a small group of patients over three years. The results seem promising, and it might appear an obvious advantage to have a device which disappears from the body when you no longer need it.

Interestingly, although Abbott's product was developed in the United States it is not being trialled there. I'm told this is because the Food and Drug Administration has tighter regulations on new medical devices. Abbott, which has its headquarters in Chicago, has preferred to do trials in Australia, New Zealand and Europe.

But it is far too early to know whether this product represents the next phase in treating clogged arteries. Professor Peter Weissberg from the British Heart Foundation feels that biodegradable stents are likely to be an incremental advance rather than a dramatic improvement.

Professor Gershlick is also cautious; stressing it's too early to say anything definitive about the dissolving stent. But he is much more optimistic and believes scaffolds that disappear from the body will be the future.

The trial at Glenfield hospital, which is likely to be extended to King's College Hospital in London, will involve only limited numbers of patients. And it could be five years before the results are known of an international trial. Until then, the dissolving stent remains an experimental treatment. As with all new drugs, devices and treatments, a highly cautious and careful approach is essential long before anyone can deem them a success.

As for the first patient in Britain to have the Abbott device, he's doing fine, two weeks after it was inserted. Shabbir Makda was back at his bus station in Leicester this morning, where he's a driver. He'll have to have some refresher training but should be back behind the wheel in a few weeks, and - he promises - doing more to look after his heart.

Stem cell research - Bridging the "Valley of Death"

Fergus Walsh | 15:14 UK time, Wednesday, 22 September 2010

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In case you missed it today is the first International Legislative Stem Cell Day. What's that I hear you ask? Apparently there are simultaneous events in the UK and USA to call for policies to speed up the commercialisation of regenerative medicine.

I was at one of them, at the Science Media Centre in London. I've talked before about the promise of stem cells. The potential is so great that this area of medicine gets a huge amount of media attention. A group of stem cell experts met with the science minister David Willetts to argue the case for more government funding to help turn stem cell ideas into reality - all very difficult a month before the Comprehensive Spending Review (CSR).

Professor Chris Mason, chair of the BIA Regenerative Medicine Industry Group said although investment returns are likely to be 15 years off, it was vital that government supported the move from the discovery phase to commercialisation. He said: "We must break the UK mantra of invented here and commercialised elsewhere".

David Willetts did announce more funding for regenerative medicine, but the exact amount will depend on the CSR. The cash, which maybe in the region of £10 million, will be used from next year to fund competition by companies trying to bring new treatments to the marketplace. Mr Willetts said: "I accept that stem cells and regenerative medicine have enormous potential for patients and for economic growth."

Whilst any funding will be useful, it's worth pointing out that the cost of bringing a new drug to market is up to £600m.

Professor Pete Coffey from the London Project to Cure Blindness at University College London said everyone was expecting a significant overall cut in government support following the CSR. Professor Coffey is hoping to use stem cells to treat age-related macular degeneration. He said he'd had concrete offers to move his research abroad, but remained loyal to the UK where he was born and educated. But he said if there were funding cuts of more that 10% he would have to lay-off members of his team. He said: "Other parts of the world, like California and Singapore are looking very attractive and the pressures here are becoming enormous." California has had $3 billion of state support for stem cell research over the past decade with around the same level again given in philanthropic grants. Professor Coffey said Singapore had recently unveiled a $10 billion (US dollar) programme for regenerative medicine, including major funding for diseases of the eye.

Sir Richard Sykes, Chair of the UK Stem Cell Foundation said Britain had always been good at fundamental research but not good at translating it. Sir Richard, a former head of GlaxoSmithKline, said there was a danger that British scientists would be attracted to research centres in Shanghai, California and elsewhere. He said there was a serious funding gap between discovery and translation - what people call "the Valley of Death" which a combination of government support and philanthropic donations could help to bridge.

Successful stem cell therapies have been around a long time - such as bone marrow transplants. More recently, stem cells have been used with tissue scaffolds to repair damaged organs like the windpipe. There have been promising trials using stem cells in the heart and liver. But given the danger of hyping stem cells at this early stage, I wondered when I would be able to walk into my GP surgery to ask for my kidney, liver or joints to be repaired. Sadly, it's not likely to be anytime soon.

David Bott from the Technology Strategy Board which funds UK innovation, said all emerging technologies disappoint in the short-term and over-deliver in the long term.

"If you live for the next 30 years you will probably benefit from this", he said cheerily. I will do my best, but it is a reminder that, for the foreseeable future, most regenerative medicine remains confined to the bench rather than the bedside.

Crackdown on internet sperm providers

Fergus Walsh | 19:12 UK time, Friday, 17 September 2010

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Why would any woman go to an unlicensed fertility company to obtain sperm? It's a question that emerges following the conviction of two men who ran an internet firm providing fresh sperm. Among the reasons maybe a belief that using an online service is easier, cheaper and less bureaucratic than going through a licensed clinic. A shortage of sperm at licensed clinics may also play a part.

Until July 2007 internet firms providing fresh sperm did not fall under the control of the Human Fertilisation and Embryology Authority. But new regulations meant that distributing or procuring eggs or sperm without a licence from the HFEA became a criminal offence.

The trial of Nigel Woodforth and Ricky Gage was the first of its kind under the new rules. They ran a website called Fertility First, and claimed to have 300 donors. In one year alone nearly 800 samples were delivered by courier to women along with home insemination kits.

The pair said they were simply offering a service but that was dismissed by Peter Thompson from the HFEA who says that women were being exploited by unlicensed firms.

"You don't know whether the sample is safe. The donor is the legal father whether they like it or not and in later life any child born has no right to find out their genetic history when it becomes an adult."

In a licensed clinic sperm is frozen and quarantined for six months. The donor is tested and re-tested for HIV and other infections, which may take months to show up. Furthermore, the sperm quality is assessed.

But there's a problem. Many clinics are facing a shortage of sperm and that means potentially long waiting lists for treatment. Dr Allan Pacey a senior lecturer in Andrology at Sheffield University says he's been concerned for years about internet fertility firms and is pleased by today's result. He urges women to seek treatment through licensed clinics:

"I can see why some women might be seduced to visit these websites and order sperm on the internet thinking it's safe and they can have the privacy of being treated in their own homes but without recognising the dangers."

Why are clinics facing a shortage of donated sperm? The reasons are not entirely clear. In 2005 donor anonymity was removed, so that offspring of donated sperm can trace the donor when they reach 18. The donor does not have any legal or financial responsibility. Some couples seeking treatment and some donors are unhappy with the new arrangement.

The number of donors has actually risen, but the number of treatments has fallen. This might be because donors are stipulating that their sperm can be used only for one couple, known to them.

The question arises as to whether the tightening of the laws on unlicensed clinics and a shortage of sperm might force some women to seek a DIY agreement with a friend or acquaintance. Nigel Woodforth and Ricky Gage will be sentenced next week and have been warned they could face a jail term.

The globalisation of fertility treatment

Fergus Walsh | 00:00 UK time, Tuesday, 14 September 2010

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If you needed heart surgery or had diabetes, you would not expect social or religious attitudes to play any part in the treatment you receive. But couples with fertility problems face this potential hurdle worldwide.

A huge variation in the availability and practice of fertility treatment is revealed in a new survey of 105 countries. The UK, which pioneered IVF, has 66 clinics, whereas Germany has 120, Spain 200 and Italy 360. Japan has more than 600 clinics. There has also been a huge increase in the number of clinics in developing countries; India now has around 500 clinics.

The survey shows that many Catholic countries have strict controls on the use of embryos. Costa Rica, in Central America declared IVF unconstitutional in 2000 because it regards the embryo as a person from the moment of conception.

Presenting the results of the survey Professor Ian Cooke, Education Director of the International Federation of Fertility Societies said:

"What is considered acceptable varies from country to country. These great differences in clinical practice don't show up in other fields of medicine, indicating that social or religious attitudes, rather than the best-practice of medicine, often drive what is allowed."

Professor Cooke gave as an example a 2004 ruling in Italy which stated that all fertilised embryos should be put back in the womb. This raised the potential of multiple pregnancies and damaged embryos being put back. This ruling was overturned earlier this year. He also highlighted the difficulties which cause people to travel abroad for fertility treatment:

"In some countries, such as the UK, the removal of donor anonymity has led to problems in finding sperm donors. Gamete donation is generally forbidden in Islamic countries, and Turkey has recently banned anyone from going abroad to receive donated sperm or eggs."

It's estimated that two thirds of all IVF births in the UK are the result of private treatment. That is despite a recommendation six years ago that the NHS should fund three cycles of IVF. Dr Francoise Shenfield a lecturer in infertility at UCL Medical School in London said France had around 70% more cycles per head of population than the UK because it was free. This raises another issue when in comes to IVF: whether society considers infertility on a par with other forms of ill-health. In this era of budget constraint it is hard to see access to fertility treatment becoming more generous across the NHS.

The survey suggests that the Czech Republic and Spain are two of the most popular destinations for British couples seeking treatment abroad. Dr Shenfield said it would be wrong to use the term "fertility tourism" as the couples are not going on holiday but seeking treatment for a medical need. She said those affected were often women over 40 who could not get funding for treatment in the UK and who may have found it cheaper to go to Barcelona or Prague than to a private clinic in Britain.

Professor Johannes Evers from the Netherlands has suggested that women up to the age of 44 should be given free IVF because it is "cost-effective". Presenting his findings at the World Congress of Fertility and sterility in Munich, Professor Evers said he based his calculations on the cost of treatment compared to the economic contribution a person makes to society over their lifetime:

"This work shows that society actually receives substantial benefits from each baby produced via IVF, and simply looking at the costs of IVF without looking at the benefits is false economy."

Professor Evers said each new life contributes around 238,000 euros (£200,000) to the economy once healthcare, education, social welfare and retirement costs were taken into account. He based his calculations on the Netherlands but said similar calculations could be done elsewhere.

Four years ago researchers in Sheffield also suggested that the economic contribution of those born through IVF greatly outweighed the costs of treatment.

Global health declaration - ten years on

Fergus Walsh | 00:00 UK time, Wednesday, 8 September 2010

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Ten years ago today, at the largest gathering of world leaders in history, an historic document was signed.

The Millennium Declaration was ambitious, aiming to "free all men, women, and children from the abject and dehumanizing conditions of extreme poverty." From this emerged a series of eight Millennium Development Goals (MDGs) which set targets to be achieved by 2015.

The MDGs represented a defining moment for global cooperation. Forged amidst the enthusiasm and optimism of a new millennium, they were the first ever set of shared development goals at international level. They confront many fundamental issues: the battle against extreme poverty and hunger, tackling preventable disease, achieving gender equality and sustainable development. Progress towards the MDGs has been mixed, but many of the targets look like being missed. There is huge regional variation, with sub-Saharan Africa performing badly on nearly every measure.

These are the 8 goals:

Goal 1: Eradicate extreme poverty and hunger
Goal 2: Achieve universal primary education
Goal 3: Promote gender equality and empower women
Goal 4: Reduce child mortality
Goal 5: Improve maternal health
Goal 6: Combat HIV/AIDS, malaria and other diseases
Goal 7: Ensure environmental sustainability
Goal 8: Develop a Global Partnership for Development

World leaders will meet again in New York later this month for a summit on the Millennium Development Goals. A decade on, the global financial crisis means these are difficult and demanding times for aid agencies and budgets. But the UN says the summit is the last chance - with five years to go - to agree a concrete action plan to accelerate progress.

With two weeks to go before the summit, several aid charities are setting out their stalls. Save the Children produced a report, "A Fair Chance of Life", which said an extra four million of the world's poorest children have died over the past 10 years because governments are "turning a blind eye" to those most in need. The number of deaths of young children has fallen, but the MDG of cutting child mortality by two thirds looks set to fail.

Jasmine Whitbread, Save the Children International's chief executive, said:

"Nearly nine million children under the age of five die every year - many of them from easily preventable or treatable illnesses - just because they can't get to a doctor or because their parents can't afford food that is nutritious enough to keep them alive."

The United Nations children's agency unicef has also published "Progress for Children", which sets out progress towards the MDGs. It makes clear that although there have been some "impressive gains" in child survival in some countries in sub-Saharan Africa, there was a widening gap in mortality rates between this region and elsewhere. For example:

"In 1990, a child born in sub-Saharan Africa faced a probability of dying before his or her fifth birthday that was 1.5 times higher than in South Asia, 3.5 times higher than in Latin America and the Caribbean and 18.4 times higher than in the industrialized countries. By 2008, these gaps had widened markedly, owing to faster progress elsewhere. Now, a child born in sub-Saharan Africa faces an under-five mortality rate that is 1.9 times higher than in South Asia, 6.3 times higher than in Latin America and the Caribbean and 24 times higher than in the industrialized nations." page 9, "Progress for Children"

Anthony Lake, executive director of unicef said:

"In the global push to achieve the MDGs, we are leaving behind millions of the world's most disadvantaged, vulnerable and marginalized children: the children who are facing the longest odds."

Another charity, WaterAid launches a report today which argues that the world has neglected sanitation. It says the hope embodied in the MDGs is "mired in excrement". Wateraid says diarrhoeal diseases caused by poor sanitation and unsafe water kill around 1.4 million children a year, more than AIDS, malaria and measles combined. The MDG target was to halve the proportion of people living without basic sanitation. WaterAid says 2.6 billion people live without access to safe, hygienic toilets, and at the current rate of progress the 2015 target will not be met until 2049, and in sub-Saharan Africa, not until the 23rd century.

The Deputy Prime Minister Nick Clegg will be at the UN meeting, "pushing hard" according to ministerial colleagues, for greater collective action on the MDGs. There will be much lobbying of Mr Clegg - look at the Spinometer on the unicef website - in advance of the UN summit. Aid agencies will want to ensure that the coalition government sticks to its pledge to protect the overseas aid budget.

Some detail was set out in the programme for government in May (opens pdf) which said:

"We will honour our commitment to spend 0.7% of GNI on overseas aid from 2013, and to enshrine this commitment in law. We will encourage other countries to fulfil their aid commitments. We will support actions to achieve the Millennium Development Goals."

GNI is Gross National Income. For more detail on the background to this pledge, a detailed Commons guide was last update in April (opens pdf).

Helping the world's poorest and most disadvantaged communities is clearly something that every developed nation should sign up to. But once the full scope of domestic spending cuts have been outlined, there maybe considerable debate about just how much the UK spends on overseas aid.

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