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King's College London - Health: More than a medical matter

Issue 629 (17 October 2011)

 

Welcome to BioNews by email, published by the Progress Educational Trust, providing you with news, comment and reviews on genetics, assisted conception, embryo/stem cell research and related areas.

Visit the BioNews website at www.bionews.org.uk where you can subscribe for free to receive BioNews by email in one of three formats, and search the archive of more than 6,000 articles.

 

 

CONTENTS

Comment

News Digest

Reviews


 



Bienvenue Monsieur Brooks and hasta la vista Vivienne

17 October 2011

By Sarah Norcross

Appeared in BioNews 629
This edition of BioNews sees a new Science Editor, as James Brooks takes over from Dr Vivienne Raper.

Vivienne has stepped down in order to do a full-time MA in creative writing. During the time she has been with us, Vivienne has contributed more than 60 articles for BioNews on a variety of topics whether it was interviewing Dr Julian Huppert MP, reviewing 'Music from the Genome', or penning stories such as 'Witchcraft tried by 100, 000 aspiring mums, survey finds' and 'Leaked letter "proves" fertility watchdog faces last bark'.

Her talent for headline writing and efficient editing will be sorely missed. Furthermore, Monday mornings will not be the same without her tales of her cocker spaniel's exploits. Perhaps our four-legged friend will appear in Vivienne's first novel, which we hope will be a bestseller. We wish Vivienne every success, and are pleased that she has agreed to remain a Contributing Editor at BioNews.

We are delighted to welcome James to BioNews. Like Genetics Editor Dr Rebecca Hill, James joins us after completing his MA in Science Journalism at City University London. Prior to his MA, James was a reporter for 'Executive Grapevine', a specialist HR publication. He also spent seven years in Paris working as a headhunter for the pharmaceutical industry.

Previously, James studied pharmacology at King's College London. He took an extramural year at the Institut Gustave-Roussy, one of the world's leading cancer research institutes and the biggest health centre dedicated to oncology in Europe, where his research focused on DNA topoisomerases. James is bilingual, speaking English and French, and will combine his role at BioNews with his work as a freelance journalist.

We hope that this is a case of 'plus ça change, plus c'est la même chose' (the more things change, the more they stay the same), particularly in terms of continuing the editorial standards for which BioNews is highly regarded.

One thing that never changes at BioNews is the need to fundraise. We really appreciate how you our readers, have helped us keep going - thank you! Your subscription to BioNews alone is very valuable to us. But now we also need you to dip into your pockets and support us financially. To be frank, we need to keep raising funds to help cover our costs to see us through the rest of the year - BioNews can't keep going without your support. So please don't dismiss this plea with a gallic shrug, but help us ensure that BioNews continues to remain freely accessible. Please give generously today via Charity Choice or Paypal. Merci!

Finally, if you haven't yet book for this year's PET annual conference The Best Possible Start in Life: The Robust and Responsive Embryo, please do so here. Au revoir.

 

SOURCES & REFERENCES



Evidence and models of best practice should guide recruitment of gamete donors

17 October 2011

By Professor Eric Blyth, Jennie Hunt and Professor Olga van den Akker

Written on behalf of PROGAR

Appeared in BioNews 629

We welcome much of what Dr Kamal Ahuja wrote in his recent BioNews commentary 'If it ain't broke, don't fix it...'. Like him, we believe there is no good evidence to demonstrate that paying 'donors' would increase the supply of donated sperm or oocytes. On the contrary, there is evidence to suggest that properly constructed donor recruitment programmes – such as the one pioneered at the London Women's Clinic – are capable of recruiting a good supply of altruistic donors.

Programmes such as this, and the repeated message from the National Gamete Donation Trust emphasise the importance of treating potential donors with the respect and positive affirmation they deserve. The Nuffield Council on Bioethics' report 'Human bodies: donation for medicine and research' has also firmly endorsed altruistic gamete donation for family-building, whilst ensuring that artificial limits on legitimate out-of-pocket expenses and loss of earnings do not financially penalise donors (1). Neither does available research evidence suggest payment is necessary: donors who report altruistic motives for donating are more likely to report post-donation satisfaction (2, 3). Altruism in donations by known donors would also be challenged if payment was suggested to donors (4). The clear message that attitude, rather than policy, needs to change appears to go unheeded by those who continually emphasise the need for payment in the guise of compensation for 'inconvenience'.

At the recent British Fertility Society (BFS) meeting for persons responsible and senior staff, responses to the recent Donation Review were presented by the Human Fertilisation and Embryology Authority (HFEA). Of the 700 responses to the question on dealing with supply of donor gametes, the HFEA reported that 72 percent favoured increasing awareness, 60 percent a recruitment campaign, and 49 percent - the majority of whom were clinicians – supported the provision of financial incentives to donors. It should be noted that donor-conceived people and their parents are the key stakeholders who would be personally affected by any change towards payment and would have to manage the psychological implications of such a change of policy.

Clinicians are also stakeholders, and their interests are not devoid of personal gain in the form of the revenue to be earned for themselves and/or their clinics by access to greater numbers of donors that could translate into additional treatment fees. Other HFEA data presented at this meeting confirmed what was already known: that very few donors are being used to create children in the maximum ten families, and that the average is considerably lower. It has previously been argued that the HFEA should have investigated the reasons for this before launching the donation review, but we welcome the fact that the HFEA now intends to look at how current sperm resources can be optimised. However, until this is thoroughly investigated, it is difficult to make the case that there is a donor shortage and that payment or compensation is needed to recruit more, or if it can be justified on ethical grounds. Neither should we ignore the views expressed in the public consultation which clearly show that the majority of respondents favour a change in approach to recruitment rather than payment.

In one area raised in Dr Ahuja's commentary, however, we urge caution – and perhaps rather more than has been raised by the Nuffield Council on Bioethics (1). The London Women's Clinic has pioneered egg (oocyte) sharing and is, of course, keen to promote this as an effective source of donor oocytes. Our caution centres primarily on the fact that – to date – there is no empirical evidence regarding the experiences of children conceived as a result of egg sharing, whether brought up in the family of the donor or of the recipient. Clearly there are also longer-term psychosocial implications for the adult parties involved, not least the potential adverse impact on a donor whose own treatment is unsuccessful. Assuming that a potential egg share donor has received full information prior to giving her consent to proceed, we do not subscribe to the view that the possibility of a donor's later regret is itself a sufficient reason for opposing egg sharing in principle.

The Nuffield Council on Bioethics states (1): 'good quality empirical research evidence is urgently needed as to what, if any, effects financially incentivised gamete donation has on children conceived as a result of such donation and, indeed, on the wider context of how responsibilities towards children are understood'.

It is imperative that these outcomes are fully investigated so as to establish as soon as possible whether egg sharing is as beneficial as claimed by its advocates.

The meeting at which the HFEA will decide how much and what sort of compensation (financial and otherwise) sperm and egg donors should be permitted to receive for their donation will take place in London on Wednesday 19 October 2011, and is open to the public. If you are interested in attending, contact the HFEA at openmeeting@hfea.gov.uk or on +44 (0)20 7291 8221.

 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

28 August 2012 - by Daniel Malynn 
In this documentary of extremes, freelance journalist and documentary producer Storm Theunissen finds out how cash-strapped Britons can make money using their bodies. On one side, you have Storm's outlandish plans to make money by selling urine and earwax for medical testing. On the other, there is an altogether more interesting and insightful look at egg donation in both the UK and USA.... [Read More]
12 December 2011 - by Dr Ruth Shidlo 
Living in Israel, where gamete donor anonymity still rules supreme, I confess I envy the UK's clear focus on the welfare of the donor conceived child and the evolution of the legal rights of offspring... [Read More]
24 October 2011 - by Antony Blackburn-Starza 
It was the recommendations to pay for the funeral expenses of organ donors and to remove the cap on compensation for gamete donors that made the headlines. But it is not the specific recommendations of the Nuffield Council on Bioethics' report 'Human bodies: donation for medicine and research' that it will be remembered for... [Read More]

17 October 2011 - by Antony Blackburn-Starza 
A report on the donation of human bodily material for medicine and research has made several recommendations including removing the current cap on egg and sperm donor expenses in the UK... [Read More]
30 September 2011 - by Dr Kamal Ahuja 
The Human Fertilisation and Embryology Authority (HFEA) has already made two decisions following its public consultation and review of gamete donation policies in the UK: first, intra-familial gamete donation can continue as before (subject to certain provisions); and second, the number of families which a single donor might help create remains limited to ten. The bigger question on compensation and benefit in kind to donors will not be answered until later this year... [Read More]
14 March 2011 - by Ann Furedi 
From March 2002 until June 2003, I worked for the Human Fertilisation and Embryology Authority (HFEA) - first as Director of Communications and then I acquired responsibility for policy and governance... [Read More]
07 March 2011 - by Alan Doran 
One of the things that makes working at the Human Fertilisation and Embryology Authority (HFEA) extremely worthwhile is we address topics that matter to many different people and groups. Unsurprisingly, there are many shades of opinion about the issues. Often, these views extend to passing judgement on our general competence and performance. The Government's proposals about the future of arm's-length bodies have added piquancy to this strand of public discussion... [Read More]



Race and genetics in stem cell transplantation

17 October 2011

By Professor Steven Marsh

Deputy Director of Research, Anthony Nolan Research Institute

Appeared in BioNews 629

Each year around 2,800 people in the UK have a stem cell transplant (1), without which they would have shortly faced death, usually from a blood cancer or another blood disorder. There are a further 400 to 800 patients each year who are unable to find a matching donor.

When a patient's own cells are inappropriate for their treatment or where there is no matching sibling donor available, the patient's only chance is to find an unrelated donor whose tissue type, also referred to as their Human Leukocyte Antigen (HLA) type, matches sufficiently. Finding these matching cells is what we have been doing at Anthony Nolan for nearly 40 years and the race of a patient is a real factor in how likely they are to match with a donor.

While Europeans are often described as 'white', it only takes a visit to the cosmetics counter at your nearest department store to realise that quite a range of skin tones fall into that category and that some 'white' shades might fall as easily into another racial description. Differences in genetic characteristics between one race and another are best thought of in terms of probabilities rather than rigid demarcations. Putting it another way, Roman noses may be common among Romans but not all Romans have a Roman nose and not all owners of a Roman nose are indeed of Roman descent. A person's HLA type is as closely related to their racial background as their physical characteristics, for example their facial shape or skin colour.

To investigate HLA type is to look at the movements of populations since the birth of our species. Indeed, the mass migrations of your ancestors will have a direct impact on how easy it is to find a donor. Our species had thousands of tissue types available at its outset and each generation has added more through mutation - the process we call evolution.

Races, as we think of them, have complex patterns of tissue types within them. Some variants may be spread widely across the globe but represented by differing frequencies between populations, while others may be specific to a single population.

Certain HLA types are much more likely to occur in Africa, Europe, South America or other parts of the world. Japanese tissue types are distinctive as are Australian Aboriginal tissue types. A white, northern European patient is most likely to be matched with a white northern European donor and a Japanese donor is most likely to help a Japanese patient, yet you couldn't rule out finding a donor across this divide unless you were looking at a very rare tissue type.

Populations that have stayed insular over many generations have genetic similarities; what we call consanguinity. This can be on the basis of geography - for example there are tissue types we associate with Japan, where there has been a historic caution towards outsiders - or other cultural factors; for instance there are patterns more closely associated with Jewish people than with others.

If you have a Japanese patient who needs an unrelated donor, the mission is clear; to find as many Japanese people as possible to join the register and to check their tissue type against that of the patient. A patient who is half-Japanese and half-European has a much harder time. Depending on what genes they acquired from each parent, you would probably need to find as many potential donors as possible with the same heritage, of which there are likely to be few, in order to find a match. But at least you know who you are looking for: probably someone who is half-European and half-Japanese. The challenge for a black Briton can be much harder.

If you are a black African-Caribbean British patient, your HLA type could come from a mix of African origins, with perhaps some native South American genes and also a possibility of white northern European ancestry. We don't know which of these you have in your tissue type until we look. If you have this breadth of diversity in your genes, you would need a donor with similar diversity.

This is reflected in how easy it is to find matching donors. While we might class 20 percent of white British patients as hard to match, 60 percent of black or mixed race British patients could be described in the same way. In the UK the NHS will seek out umbilical cord cells (which require a lesser degree of tissue matching for success) for a patient who cannot find a matching adult donor, but the availability of such cells is limited and the cost is high. Clinicians will also, when appropriate, consider a transplant from a donor who is less well matched, though the risks of rejection for the patient are higher.

We search all the world's registers when we are seeking a donor; this is over 18 million prospective donors. But the nations that have well-developed donor registers are by definition the same nations where they have facilities to provide stem cell transplants for their domestic patients. This corresponds clearly with the developmental status of a nation, which itself is not irrelevant to race.

In Britain the added difficulties of finding a match for ethnic minority or mixed race patients are reflected not only in the increased likelihood of finding no match at all, or in being forced to use a less than perfect match, but also in the cost to the NHS of the provision of cells for transplant.

A black or minority ethnic (BME) patient is more likely to need cells from abroad rather than from a UK donor, which adds to the cost. They will also be more likely to need an umbilical cord transplant (because of the lesser matching requirement), which is also more expensive and, if they are an adult, it may take two cords to effect the treatment. If a readily matched adult patient secures an adult British donor, the cost to the NHS of these cells is in the region of £13,000. A difficult to match patient may require two cord units imported from abroad while frozen, which could cost £70,000.

It is clear that race is a huge factor in the field of blood stem cell transplantation, though the definition of 'race' we would use is more complex than drawing arbitrary lines through the geographical or genetic map. Studies of neighbouring but culturally distinct peoples have often shown that they are genetically indistinguishable.

The challenge for health policy-makers is to ensure the standard of care and the expectation of survival that patients can hope for does not differ on grounds of race simply because of that cost differential.

 

SOURCES & REFERENCES
British Society of Blood and Marrow Transplantion | 17 May 2011
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

18 June 2012 - by Ruth Retassie 
Hungary's Medical Research Council has begun investigations into a company that provided a politician with a certificate characterising his 'racial purity'... [Read More]
09 January 2012 - by Sandy Starr 
The Progress Educational Trust's 2011 project Genes, Ancestry and Racial Identity: Does It Matter Where Your Genes Come From?, supported by the Wellcome Trust, sought to debate race and ancestry in the context of genetics and to explore the connection (or lack of connection) between genetics and the concept of 'race'... [Read More]
21 November 2011 - by Dr Rachael Panizzo 
The study of genetic diversity between ethnic groups can help explain the ways in which race influences our biology and susceptibility to disease. But what do we mean by 'race', exactly? These issues are considered in the collection of essays 'What's the use of race? Modern governance and the biology of difference', edited by Dr Ian Whitmarsh and Dr David Jones... [Read More]

27 June 2011 - by Professor Catherine Nash 
Over the last decade there has been an intense debate among social scientists, ethicists and, to an extent, scientists themselves over the degree to which new studies of human genetic variation, and their application in the development of drugs targeted at ethnic or racial groups, constitutes a revival of old racial categories... [Read More]
09 May 2011 - by Dr Peter J Aspinall 
The Progress Educational Trust's recent debate 'Is There a Place for Race in Biology' generated lively discussion around whether the accurate identification of genetically-distinct populations is possible or desirable. The semantic issue of whether the term 'race' in this context should be abandoned in favour of 'ethnicity', 'ancestry', or some other term was also raised... [Read More]
11 April 2011 - by Dr Jess Buxton 
This evening debate, organised by the Progress Educational Trust (PET) in partnership with University College London's Genetics Institute, and supported by the Wellcome Trust, marked the launch of PET's project 'Genes, Ancestry and Racial Identity: Does it Matter Where Your Genes Come From?' The first of what promises to be a very lively series of debates... [Read More]
06 December 2010 - by Dr Gabrielle Samuel 
More than 200 patients' lives could be saved each year following recommendations published in a new report, focusing on improving the availability and quality of stem cell transplants in the UK... [Read More]



Cap on gamete donor expenses in the UK should be lifted, report recommends

17 October 2011

By Antony Blackburn-Starza

Appeared in BioNews 629

A report on the donation of human bodily material for medicine and research has made several recommendations including removing the current cap on egg and sperm donor expenses in the UK.

'We would like to see the £250 cap on egg and sperm donor expenses removed to ensure that lost earnings are reimbursed in full. People who are willing to donate for other people's treatment should not be left out of pocket', said Professor Dame Marilyn Strathern, who chaired the Nuffield Council on Bioethics' working party which produced the report.

The report considered the ethical issues of egg and sperm donation amid a shortage in the supply of donor eggs and sperm and long waiting lists for IVF. It also suggests that payment over and above expenses could be offered to women who are prepared to donate eggs for research in return for the discomfort and inconvenience they experience and recommends a pilot scheme be set up to explore the issue.

'Donating eggs for research purposes is different from donating to help someone else's treatment. You're not usually trying to help a particular individual - you are more a participant in a research exercise', said Professor Strathern. 'We think it would be ethically justified to offer payment to women who are willing to give their time and undergo uncomfortable procedures in order to donate eggs for research'.

Egg donors face health risks including ovarian hyperstimulation syndrome, infections, and bleeding. The report the states there is a 'lack of good quality data on the long-term risks of repeat egg donation' and further empirical research is necessary. It also recommends no changes to the current policy of egg sharing for women who are not able to access NHS fertility services, but cautions it is 'not appropriate' to use the policy as a basis for approving financial incentives for egg donation.

The Council rejected the idea of paying a 'purchase' price for the gamete itself - other than recompense for lost earnings and discomfort - and called for a national register of gamete donors to be established, endorsing the good practice guidance issued by the European Society of Human Reproduction and Embryology on the treatment of egg donors in the context of cross border reproductive care. It also recommended that the World Health Organisation should develop 'appropriate guiding principles to protect egg donors from abuse or exploitation'.

The Human Fertilisation and Embryology Authority (HFEA) is due to make a set of decisions concerning compensation or benefit in kind to donors later this month, following its recent consultation and review of gamete donation policies in the UK. The payment of donors in the UK is currently prohibited by the HFEA, but donors can claim 'reasonable expenses' for loss of earnings up to a maximum of £250 per course of sperm donation or cycle of egg donation.

Commenting on the issue of gamete donation, Sarah Norcross - director of the charity that publishes BioNews, the Progress Educational Trust (PET) - said: 'Compensation for loss of earnings needs to be variable in order to reflect the fact that loss of earnings themselves vary depending upon the different circumstances in which people find themselves'.

Among its other recommendations, the Council's report suggests the NHS should pay for the funerals of organ donors to help address the current shortage of organs. It says this would be an ethical way of encouraging people to sign the Organ Donor Register.

The report, entitled 'Human Bodies: Donation for Medicine and Research', is a product of an 18-month inquiry led by a working party which included experts in medicine, ethics and law. The report concludes that the principle of altruism should continue to be central to approach all types of donation but says this does not preclude the possibility of permitting some form of payment in certain circumstances.

 

SOURCES & REFERENCES
Nuffield Council on Bioethics | 11 October 2011
 
Progress Educational Trust | 13 July 2010
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

14 January 2013 - by Antony Blackburn-Starza 
The image of the sperm donor nipping off between lectures to casually donate for a few quid of beer money was neatly set aside by this thought-provoking debate. In his place, in strode the complex male – knowledgeable, thoughtful, sensitive… and probably over 25... [Read More]
28 August 2012 - by Daniel Malynn 
In this documentary of extremes, freelance journalist and documentary producer Storm Theunissen finds out how cash-strapped Britons can make money using their bodies. On one side, you have Storm's outlandish plans to make money by selling urine and earwax for medical testing. On the other, there is an altogether more interesting and insightful look at egg donation in both the UK and USA.... [Read More]
24 October 2011 - by Antony Blackburn-Starza 
It was the recommendations to pay for the funeral expenses of organ donors and to remove the cap on compensation for gamete donors that made the headlines. But it is not the specific recommendations of the Nuffield Council on Bioethics' report 'Human bodies: donation for medicine and research' that it will be remembered for... [Read More]
24 October 2011 - by Professor Dame Marilyn Strathern 
'How far should society go in encouraging people to donate their bodily material?' is the question at the heart of the Nuffield Council on Bioethics' report on the ethics of donation for medicine and research, which was published earlier this month... [Read More]
24 October 2011 - by Walter Merricks 
Perhaps the Government is right to plan to abolish the Human Fertilisation and Embryology Authority (HFEA). The astonishing behaviour of its members at last week's open Authority meeting over compensation for egg and sperm donors will lower its reputation in the eyes of some of its erstwhile supporters. Those who might have manned the barricades to halt the Government's plans may now wonder whether the Care Quality Commission (CQC) – the health and social care regulator set to take over the H... [Read More]

30 September 2011 - by Dr Kamal Ahuja 
The Human Fertilisation and Embryology Authority (HFEA) has already made two decisions following its public consultation and review of gamete donation policies in the UK: first, intra-familial gamete donation can continue as before (subject to certain provisions); and second, the number of families which a single donor might help create remains limited to ten. The bigger question on compensation and benefit in kind to donors will not be answered until later this year... [Read More]
03 May 2011 - by Professor Eric Blyth 
During its 20-year history, the UK's Human Fertilisation and Embryology Authority (HFEA) has notched up significant achievements in the regulation of assisted human reproduction that have rightly drawn respect worldwide. An important characteristic of the HFEA's approach to regulation has been its use of public consultations to inform policy development... [Read More]
24 January 2011 - by Julianna Photopoulos 
The UK's fertility watchdog, the Human Fertility and Embryology Authority (HFEA), has launched a public consultation on how sperm and egg donation should be regulated.... [Read More]
25 October 2010 - by Sarah Guy 
Should we pay women to become egg donors to tackle the 'mismatch' between supply and demand? This question was debated last week in an event organised by the Progress Educational Trust in partnership with the Royal Society of Medicine, supported by the National Gamete Donation Trust and the British Fertility Society (BFS)... [Read More]
12 April 2010 - by National Gamete Donation Trust 
The Trustees of the National Gamete Donation Trust were interested to read Dr John Parsons' article on introducing payment for altruistic egg donors. In principle we support egg sharing, but are concerned about the discrepancy between what is effectively payment in kind, and the reimbursement given to altruistic donors.... [Read More]



Black Death DNA puzzle no longer plagues scientists

17 October 2011

By Dr Louisa Petchey

Appeared in BioNews 629

DNA extracted from the teeth of plague victims buried in London over 660 years ago has been used to reconstruct the genome of the bacteria that led to the Black Death. The study, carried out by a team of scientists from Canada and Germany, showed that the genetic make-up of this medieval bacteria has remained remarkably unchanged compared to modern day strains. The scientists believe the bacteria, known as Yersinia pestis, is the ancestor of all currently circulating plague bacteria.

'We have covered about 99 percent of the ancient Yersinia pestis genome', said Dr Johannes Krause from the University of Tübingen in Germany, who co-authored the study. 'When we compare this reconstructed genome with modern strains of Yersinia pestis… We do not see a single position in this ancient genome which cannot be found in modern strains'.

The work is the first to recreate a genome from DNA fragments over 100 years old or taken from ancient skeletons. It marks the beginning of 'a new era of research into infectious disease', according to lead scientist Dr Hendrik Poinar from McMaster University in Canada. Scientists hope that a better understanding of how ancient bacteria have evolved will provide valuable insight into how pathogens can change and adapt to cause new infections.

But before it could be sequenced, the ancient microbe's genome first had to be extracted from the complex mix of other bacterial and human DNA present in the skeleton's teeth. To do this the team pioneered a method that uses fragments of DNA taken from modern day bacteria to bind to and pull out the complimentary strands of ancient DNA. This method could also be applied to other historic pathogens, said Dr Krause.

A surprise result of the sequencing data was the degree of the similarity in the genetic make-up of the ancient plague strain compared to its modern day counterpart. Out of the 4.6 million base pairs that make up the bacterial genome, there were only 97 DNA changes and only twelve of these occurred within genes. This suggests that the increased virulence of the bacteria during the Black Death - which wiped out half of Western Europe's population during the 14th century - may not be entirely down to genetics but environmental factors too. Several years of poor crops during the 14th century meant many Europeans were malnourished and vulnerable to getting infections and this - on top of poor living conditions that allowed the disease to spread easily - may explain the deadly efficiency of the microbe specifically during the Black Death.

The bacteria Yersinia pestis still exists, but a 'large human outbreak' would be 'inconceivable in this day', according to Dr Paul Keim, an expert on infectious bacteria at Northern Arizona University. But this does not mean we are safe from a modern version of the Black Death. The fatal strain of Yersinia pestis evolved naturally from previously harmless soil bacteria only 140 years before the plague broke out. So while Yersinia pestis infections can now be easily treated with antibiotics, its story shows us how new or changed pathogens can render our immune systems useless when we come up against them for the first time.

 

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23 July 2012 - by George Frodsham 
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07 November 2011 - by Ruth Retassie 
Present day humans in Southeast Asia have about one percent of DNA originating from Denisovans, an extinct species from the Homo genus... [Read More]

08 August 2011 - by Dr Rosie Morley 
King Tutankhamun shares ancestors with more than 50 percent of Western European men, according to a personal genomics company in Switzerland.... [Read More]
08 March 2010 - by Seil Collins 
Scientists have catalogued the genes of microbes living in our gut, information that could be crucial in assessing the impact of microbes on our health. The study, published in Nature, reports the sequencing of 3.3 million microbial genes, a gene set 150 times larger than the human genome.... [Read More]
08 October 2001 - by BioNews 
British scientists have decoded the genetic sequence of the bacteria that causes Black Death, otherwise known as the plague. The discovery may lead to the production of a vaccine or treatments for the disease, which still affects people around the world today and is viewed as a potential weapon for... [Read More]
23 April 2001 - by BioNews 
Scientists have announced that hospital 'superbugs', bacteria resistant to antibiotics, have been dealt a blow by the decoding of the genomes of two of the most feared of the bugs. Japanese researchers from Juntendo University in Tokyo have decoded the DNA sequence of two antibiotic-resistant strains of the bacteria staphylococcus... [Read More]



Female fertility may be improved by breast cancer risk gene

17 October 2011

By George Frodsham

Appeared in BioNews 629

A genetic mutation known to increase a woman's risk of cancer could also increase their fertility, research suggests. Women with mutations in the BRCA1 or BRCA2 genes, which are associated with a higher risk of breast and ovarian cancer, were found to have larger families when compared to control groups.

Professor Ken Smith and his colleagues, from the University of Utah, USA, used data on over 100,000 women in total, looking at the number of children borne by women with BRCA1/2 mutations. They were found to have a larger average number of children when compared to those without the mutations; they also had their first child earlier and their last later, with a smaller than average gap between each child.

In order to account for the effect of modern contraception, the study, published in the journal Proceedings of the Royal Society B, distinguished between women born before 1930 and those born afterwards. Increased fertility was much more pronounced in women with BRCA1/2 mutations born before 1930 – they were on average 3.6 times more likely to have four or more children than their pre-1930 counterparts without the mutations.

Usually, genetic mutations which significantly increase cancer risks and mortality are gradually eliminated by natural selection – higher mortality risks are generally associated with a lower chance of reproduction. The BRCA1/2 mutations' role in increasing women's fertility could explain why they remain relatively prevalent. 'For us the question was why are these particular genetic mutations still present in the population', said Professor Smith.

The authors wrote that 'the very individuals who carry these mutations are most likely to transmit them, given their larger family sizes'. The study also noted that 'women with BRCA1 or BRCA2 mutations have an estimated 40 to 85 percent lifetime risk of developing breast cancer and 16 to 64 percent risk of ovarian cancer'. According to the US National Cancer Institute, women with the mutations are about five times more likely to develop breast cancer.

Previous smaller studies had not found any link between BRCA1/2 mutations and fertility, as noted in Professor Smith's paper. According to the Australian Broadcasting Corporation, Professor Rodney Scott, an Australian geneticist from the University of Newcastle, said that the findings are 'certainly worth following up', but cautioned that the results could be down to cultural factors.

Professor Scott said that the researchers had only looked at married women from families in Utah with a high incidence of breast cancer. 'These families are not necessarily representative of women in the general population who carry BRCA1 or BRCA2 mutations', he explained. 'One needs to look more closely at some of these con-founders to prove whether or not this is a real finding or a mysterious finding as a result of some bias'.

 

SOURCES & REFERENCES
ABC science | 12 October 2011
 
Cancer risk genes link to fertility
Press Association | 12 October 2011
 
Proceedings of the Royal Society B | 12 October 2011
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

19 December 2011 - by Dr Rebecca Robey 
Women who inherit breast cancer risk genes from their father may be diagnosed with, or even develop, the disease several years earlier than those who inherit the same genes from their mother. This may have implications for screening and treatment strategies for those at risk of hereditary breast cancer... [Read More]
12 December 2011 - by Dr Rebecca Robey 
As a biomedical research scientist recently returned to university to retrain as a medic, I am very much the target audience for the re-issued academic textbook 'The Reproductive System at a Glance', which provides a succinct guide to all facets of human reproduction... [Read More]
05 December 2011 - by Sarah Guy 
Two gene rearrangements associated with prostate and lung cancer could also be behind five to seven percent of all breast cancers, according to US scientists... [Read More]

06 June 2011 - by Dr Charlotte Maden 
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Gene mutation for liver disease corrected in human stem cells

17 October 2011

By Luciana Strait

Appeared in BioNews 629

Genetics and stem cell research have been combined for the first time to correct a genetic mutation associated with liver disease. This new approach could lead to people with a genetic disease being treated with their own cells.

The research 'represents a first step towards personalised cell therapy for genetic disorders of the liver', said Dr Ludovic Vallier of the University of Cambridge's Anne McLaren Laboratory for Regenerative Medicine, one of researchers involved in the study.

The study, published in Nature, used cells containing the genetic mutation linked to liver disease taken from a patient to produce iPS cells. These stem cells can differentiate into other types of cells, such as liver cells, but cannot instantly be used in humans as they contain the corrupted genetic code responsible for the disease.

To correct the mutation, the researchers used an engineered molecule which removed the faulty sequence in the gene, replacing it with a functioning sequence. The stem cells were then grown into liver cells and tested both in the lab and in mice, where they 'functioned beautifully with normal secretion and function', according to Professor David Lomas, deputy director of the Cambridge Institute for Medical Research, University of Cambridge, who was involved in the study.

The researchers examined a gene which protects against inflammation in the liver by producing a certain protein called α1-antitrypsin. In people with a mutation in the gene the protein becomes trapped in the liver which can lead to cirrhosis and eventually liver failure. When the corrected cells were transplanted into mouse livers, the researchers found that the cells had integrated and begun to produce and release protein appropriately.

The authors suggest this approach is significantly more efficient than other gene-targeting technologies currently available. 'Most gene therapy is not correcting the gene, it's introducing a new copy of the gene', said Robin Ali, Professor of Human Molecular Genetics at University College London, who was not involved in the study. 'What's exciting is that this corrects', he added. Dr Vallier explained further: 'The genetic correction doesn't increase the number of genetic anomalies that you can find in iPS cells'.

The research is still at a very early stage, however, and the study was aimed simply to develop the technique. According to the BBC, Professor Lomas said the technique was 'ridiculously hard', but acknowledged 'the potential is enormous'. 'The key thing is safety', he said, and further research and clinical trials are needed before any treatments can be developed.

 

SOURCES & REFERENCES
BBC | 13 October 2011
 
Telegraph | 12 October 2011
 
Nature | 12 October 2011
 
Wellcome Trust press release | 13 October 2011
 
Guardian | 12 October 2011
 
NHS Choices Behind the Headline | 13 October 2011
 
Nature | 12 October 2011
 

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Sickle cell disease reversed in mice

17 October 2011

By Mehmet Fidanboylu

Appeared in BioNews 629

The blood condition sickle cell disease may be reversed by turning off a single gene, according to scientists in the USA. By inactivating a single gene in red blood cells the researchers were able to alleviate symptoms of the disease in mice, offering the hope of a potential new treatment for humans.

Before birth, babies produce a special form of haemoglobin - the protein in red blood cells that fixes oxygen, enabling its transport around the body - which allows them to obtain oxygen from the mother via the placenta. Shortly after birth a switch occurs and the baby will start to produce adult rather than fetal haemoglobin. It is at this point that sickle cell disease can come to light, leading to symptoms including anaemia, pain and organ damage. The condition is potentially lethal.

Sickle cell disease is caused by a genetic mutation in adult haemoglobin that affects approximately 1 in 5000 people, and is more common in people of African origin. In sickle cell disease the mutated haemoglobin causes red blood cells to form rigid sickle shapes that mean they do not flow through small blood vessels as well as they should.

A team of researchers at Harvard Medical School and Howard Hughes Medical Institute in Boston, USA, previously identified the gene BCL11A as being important for the switch from producing fetal to adult haemoglobin. BCL11A is one of the molecular switches that help to stop production of fetal haemoglobin not long after birth, allowing production of the adult form to take over.

For their latest study, published in the journal Science, the researchers found that inactivating BCL11A in developing red blood cells caused adult mice to start producing fetal haemoglobin. This finding was replicated in two different mouse models of human sickle cell disease, and in both instances the mice started producing red blood cells with no 'sickling'. Up to 85 percent of red blood cells carried fetal haemoglobin, reversing the clinical symptoms of the disease.

'We knew from previous clinical studies that the body needs to produce cells containing only 15 to 20 percent fetal haemoglobin to reverse disease', said Professor Stuart Orkin, the leader of the research team. 'With these results, we know now we have a target that, if we can develop ways to inactivate or silence it clinically, could be very beneficial to people with sickle cell'.

Currently, the most effective treatment option for sickle cell disease is a bone marrow transplant. However, this requires a compatible donor and can lead to complications associated with transplantation. Another option is the drug hydroxyurea, however scientists do not currently understand how or why it works, and it is not effective in all patients.

By reversing the symptoms of sickle cell disease in mice, this study has identified the potential for future drugs targeting BCL11A. However, Professor Alex Felice, a haematologist and molecular genetics expert at the University of Malta, has warned that success in animal models does not guarantee success in humans. He told ScienceNOW that in humans 'BCL11A is expressed in other blood cell types' meaning that silencing it could be problematic.

 

SOURCES & REFERENCES
Science | 13 October 2011
 
Harvard Gazette, HarvardScience | 13 October 2011
 
Howard Hughes Medical Institute press release | 13 October 2011
 
Reuters | 13 October 2011
 
New Scientist | 13 October 2011
 
Science Magazine | 13 October 2011
 

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Nevada doctor pleads not guilty of stem cell scam

17 October 2011

By Jessica Ware

Appeared in BioNews 629

A US doctor accused of implanting stem cells into chronically ill patients pleaded not guilty at a court hearing on Thursday 13 October. Dr Ralph Conti, of Henderson, Nevada, has been accused of transplanting stem cells harvested from placental tissue into patients, at the direction of Alfred Sapse, who was falsely claiming to be a doctor.

Sapse, the director of StemCell Pharma Inc., who has never held a medical license from any US state, allegedly told patients he was a retired foreign physician, officials said. The company advertised its business to investors and patients as a cure for diseases such as multiple sclerosis, cerebral palsy and the degenerative eye disease retinitis pigmentosa.

The men are facing 34 fraud and conspiracy charges. A paediatrician by trade, Dr Conti was found to have had no prior training in stem cell therapy. Sapse, who was indicted on mail and wire fraud charges in 2010, also pleaded not guilty to the new charges, which supersede the previous ones. His lawyer declined to comment.

'By misrepresenting his credentials, the nature of his treatment, the source of his 'stem cells', and the adverse effects suffered by previous patients, defendant Sapse convinced chronically ill patients to undergo experimental implant procedures, many of which were performed by Conti', the indictment read.

Dr Conti and Sapse operated their clinic in the Las Vegas area, administering stem cells from placental tissues to 34 patients between February and November 2006.

A single implant was found to cost $2,500 (£1,600) and the company made profits of over $1 million dollars. The US District Court in Las Vegas heard on Thursday how Sapse spent the majority of this on gambling.

It was reported that some patients who received treatment later developed infections. This triggered suspicion, and the US Food and Drug Administration (FDA) issued the clinic with a warning, alleging that Sapse failed to properly obtain, store, test and process the placentas, or screen donors and patients.

Sapse then moved his operation to Mexico where he reportedly implanted 100 more patients with placental tissue between 2007 and 2010. It is alleged he often performed the procedure himself.

Six paediatric clinics are currently under Dr Conti's direction in the Las Vegas area, and it is reported that he intends to continue running them whilst awaiting trial. Dr Conti's lawyer said: 'The matter relates to events that occurred five years ago and is unrelated to the paediatric medical practice he has operated successfully in Las Vegas for more than 20 years'.

He added that Dr Conti was cooperating with federal authorities and 'believes the facts of the case will unfold in a different fashion'.

If found guilty both men face lengthy prison sentences and fines of up to $250,000, officials told the Las Vegas Sun. They will appear before magistrates on 22 March next year.

 

SOURCES & REFERENCES
Las Vegas Sun | 12 October 2011
 
Nevada Doctor Indicted in Alleged Stem Cell Scam
ABC News | 13 October 2011
 
Nevada doctor pleads not guilty in stem cell case
Newsday | 13 October 2011
 
Nevada physician pleads not guilty in stem cell scam case; trial with fake doc set for March
Washington Post | 13 October 2011
 

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Women as young as 18 searching for sperm donors online

17 October 2011

By Dr Zara Mahmoud

Appeared in BioNews 629

Increasing numbers of women under the age of 25 are turning to sperm donors online, an investigation by the Sunday Times has shown. Many of these women have stable jobs and good support networks, and see no reason to wait before starting a family.

'I'm ready in every way possible to be a mum. The only problem is you need a male and female to make a baby and I only have the female part', read an appeal by a 21-year old on an online forum.

These forums, such as babydonor.com, bring together prospective parents and potential sperm donors, and women under 25 account for up to a quarter of their advertisers.

A 20-year old care worker from Moray, who found a willing donor via online advertising, says of her experience: 'He [the donor] has donated several times before and has stayed in contact with those families. I don't want to just meet men in bars and sleep with them, I'm not that kind of girl. I haven't told my parents what I'm doing, but if I fall pregnant then I'll tell them the truth. They'll be shocked, but I know they'll support me'.

The high number of adverts found online suggests that many women are not using regulated clinics – whose customers under the age 25 make up only one to two percent of the client base. The high cost of a single round of fertility treatment (around £1,000), combined with a success rate of less than 16 percent, may be driving women away from authorised clinics towards the unregulated sperm donation market. The Sunday Times reports that while it is illegal to procure, test, process or distribute human sperm or eggs without a licence, these 'introduction agency' sites may technically be within the law.

The Human Fertilisation and Embryology Authority (HFEA) cautions that using unscreened sperm samples is potentially harmful to both mother and baby. Touching on the question of paternity, it adds: 'For people using unlicensed services or private arrangements there are serious implications as to who is legally the father of any child conceived. Outside of a licensed clinic the man's status as the father cannot be waived'.

 

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Fruit and veg keeps genetic risk of heart disease at bay

17 October 2011

By Dr Rebecca Robey

Appeared in BioNews 629

Eating high quantities of fresh fruit and vegetables can counterbalance the effects of having a genetic predisposition to heart disease, an international study has found.

The research, led by scientists at McGill University and McMaster University, Canada, examined the incidence of heart attack (myocardial infarction) in individuals carrying four different high-risk variants of a region of DNA called 9p21. They then investigated how the risk was influenced by environmental factors such as smoking, physical activity and diet. They found that having a diet high in raw vegetables and fruit reduced the likelihood of heart attack in people who carried any one of the high-risk genetic variants.

Strikingly, for one of the genetic variants, rs2383206, the extra risk could be completely abolished by a vegetable-heavy diet. Carriers of rs2383206 who ate plenty of fruit and vegetables were no more likely to have a heart attack than individuals who did not carry any of the four high-risk genetic variants. Professor Sonia Anand, who led the team at McMaster University, commented: 'Our results support the public health recommendation to consume more than five servings of fruits or vegetables as a way to promote good health'.

The study had 8,114 participants from five ethnic groups (3,820 heart attack patients and 4,294 controls), selected from people enrolled in a huge global study on heart attack called INTERHEART. By examining participants' DNA, the researchers re-confirmed the increased risk of heart attack in carriers of any of the four genetic variants. Questionnaires were used to examine diet, smoking and physical activity. The team acknowledge that a limitation of the study is that self-reporting of lifestyle factors in this way can be prone to bias.

To support their findings, the researchers also analysed data from another large study into cardiovascular disease (CVD), the FINRISK study. This examined 19,129 Finnish individuals, including 1,014 cases of CVD, and found a similar relationship between genetic predisposition, diet and risk of CVD. However, this study looked at the prevalence of a different high-risk variant of 9p21; used a different questionnaire to investigate diet; and looked at CVD in general (of which heart attack is just one disorder). The two studies cannot, therefore be directly compared.

Judy O'Sullivan, senior cardiac nurse at the British Heart Foundation, said: 'This piece of research is certainly an interesting and useful insight into how our risk of developing heart disease is influenced by a number of factors. [...] The relationship between [lifestyle and genetics] is often very complicated and we don't yet have all the answers but the message appears to be very simple; eating lots of fruit and vegetables is great news for our heart health'.

 

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House of Commons debates amendments to Public Bodies Bill

14 October 2011

By Sandy Starr

Appeared in BioNews 629

The future of the UK's fertility regulator has been debated by a House of Commons committee. An amendment to the Public Bodies Bill that, if passed, would have prevented the abolition of the Human Fertilisation and Embryology Authority (HFEA), was proposed but ultimately withdrawn by Valerie Vaz (Labour MP for Walsall South). A related amendment, which would have ensured that the HFEA could only be abolished if doing so was demonstrably cost-effective and 'would deliver a net benefit', was also discussed. This was proposed by Roberta Blackman-Woods (Labour MP for Durham) and Jon Trickett (Labour MP for Hemsworth in West Yorkshire).

Vaz opened the debate by arguing that the HFEA is 'astonished to be in the Bill', and said that if the HFEA's functions are transferred to other organisations then 'we will not get the full range of expertise; we will get a subcommittee that does not really know what is happening in the discussions that are going on'. An example Vaz gave of a specific issue that the HFEA is better placed to handle than other organisations was 'the difficulties experienced by women in multiple births where more than one embryo has been implanted'.

David Heath (Deputy Leader of the House of Commons and Liberal Democrat MP for Somerton and Frome) responded to Vaz, arguing that the HFEA's 'astonishment must have been qualified, surely, by the consultation that had already taken place'. Heath explained that the Public Bodies Bill does not in itself constitute the abolition of the HFEA, but rather is 'paving legislation for a subsequent decision that may involve a number of iterations and will certainly involve consultation'. In his capacity as a representative of the Coalition Government, Heath said: 'Our objective is to streamline healthcare and medical research regulation and reduce bureaucracy; we take the view that we cannot simply continue with the current system of regulation'.

Trickett questioned whether such 'administrative' thinking could be applied to 'the most sensitive and delicate ethical matters imaginable, such as the creation of life'. Heath reassured Trickett that 'we are deliberately not moving ahead at a rate of knots' and that 'an extensive consultation will take place shortly, focusing on where the functions are best transferred'. Vaz withdrew her amendment, but not before urging Heath to 'think again about the role of the two bodies'. She said: 'I do not want future generations to look back and say, "Why are we having this inquiry? Parliament sat there. They had the ability to do something about that and they didn't. They acted in haste"'.

 

SOURCES & REFERENCES
House of Commons | 11 October 2011
 
House of Commons | 11 October 2011
 
House of Commons | 13 October 2011
 

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TV Review: Mixed Race Britain - How the World Got Mixed Up

17 October 2011

By Nishat Hyder

Appeared in BioNews 629

Mixed Race Britain: How the World Got Mixed Up

BBC2, Saturday 8 October 2011

'Mixed Race Britain: How The World Got Mixed Up', BBC2, Saturday 8 October 2011


'One of the very few universal laws of history is this: whenever and wherever people of different races have been brought together they have always mixed. For most of human history the power of sex managed to undermine the power of race'.

Well, perhaps not undermine, but challenge, certainly. The preceding programme synopsis refers to BBC2's recent documentary entitled How The World Got Mixed Up, broadcast on Saturday 8 October 2011, as part of the BBC's Mixed Race Britain season. The programme attempts to document the phenomena of 'mixed race' as a category of ethnicity – or indeed, a lack thereof.

Over the course of the programme we are swept through a five-hundred-year history of 'exploitation and Empire building' that seeks to explain 'mixed race' society. The documentary separately focuses on different episodes in history where interracial relationships were contentious: the American Civil Rights Movement; British colonisation of America and relationship with Native Americans; the African slave trade; the Spanish Conquests in South America; Portuguese colonisation of South India; British colonisation of India; French colonisation of Louisiana; Germany under the Third Reich; and South Africa during Apartheid.

Of course, a mere hour and a half is barely enough time to explain just one of these historical periods and the various nuances – political, economic, social, cultural – that can account for race relations; let alone all of them. And, indeed, such a thorough investigation is not the stated purpose of this documentary. From the outset, the idea of 'tasting the forbidden fruit' is identified as a recurring (perhaps unifying?) theme that explains 'mixed race'. The opening voiceover relates: 'For years interracial sex was one of the great taboos: a world divided by the idea of race shrouded interracial desire in secrecy and shame…'

However, after a relatively bold opening, the documentary disappoints in its explanation of sexual desire subverting racial division. Racial stereotypes of the female 'other' as a beautiful, forbidden object of sexual desire, and the male 'other' as a dangerous, sexual predator, are identified and restated throughout the documentary. But no analysis or explanation of desire vis-à-vis the 'other' or 'outsider' is attempted. Furthermore, related discourses in gender studies are simply ignored. Thus, what emerges is a half-baked account of interracial relations across all time and cultures: the tension between an inexplicable desire for the 'other'; the need to suppress and control the 'other'; and the instinct to maintain racial integrity. A clearer distinction could have been made between the issue of mixed race binary relationship in itself, and the separate issue of that relationship in the broader societal context. The makers of the documentary appeared to attempt to address both issues, but did so in a muddled sort of fashion.

Despite lacking a certain academic depth or rigour, this documentary provides a nice overview of the ebb and flow of the idea of 'mixed race' throughout modern history. It is easy to see the acceptance of mixed race couples as part of a broader, on-going civil liberties movement, and therefore in terms of chronological historical progression. Interestingly, and importantly, the documentary depicts episodes in history of arguably greater diversity and acceptance than today. For example, William Dalrymple, author of 'White Mughals' refers to India during 1780s, where in trading towns such as Calcutta, one third of British households were racially mixed – a higher proportion than that found in some of the most diverse areas of contemporary London. The same commentator also pointed out the parallel between diversity and acceptance corresponding to the height of equal economic and military power (in this case, between the British and the Indians). Subsequent scandals served to disrupt the delicate balance of power, and with it, the society that openly accepted mixed race couples.

The documentary closes with a brief look at the idea of 'mixed race' in present-day Britain. The few minutes devoted to contemporary perceptions of mixed race couples fails to capture the complexities and tension that continues to pervade this issue. But perhaps that will be the subject of another production.

Although sketchy in parts, overall, this was an interesting and well-made documentary that has certainly caused me to think about, and research further, some of the issues concerning the idea of 'mixed race'.

 

SOURCES & REFERENCES
BBC iPlayer | 08 October 2011
 

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27 June 2011 - by Professor Catherine Nash 
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TV Review: Me, My Sex and I

17 October 2011

By Daniel Malynn

Appeared in BioNews 629

Me, My Sex and I

BBC1, Monday 5 September 2011

'Me, My Sex and I', BBC1, Tuesday 11 October 2011


'Me, My Sex and I' is a documentary about people who are born neither entirely male nor female. I must state at the outset that this programme is about the sex of the individual, and should not be confused with gender, which is how people identify themselves (something that many other TV reviews have got wrong in describing this programme). As the show makes clear, sex is not an 'either/ or' for many people; the real buzz word here is 'ambiguous'.

'Me, My Sex and I' has to be one of the best documentaries I have ever reviewed for BioNews. As I sat down late on a Tuesday evening I was not ready for how thought provoking it was, and for the number of acutely emotional stories covered. I found it truly eye opening, and won't look at sex and identity in the same way again. I urge you to watch the programme, and therefore feel I should warn you that this review contains spoilers.

However, I fear I may have oversold the show – there are some small downsides. First, the medical information is thrown at the audience at such high speeds that, as a layperson, I struggled to keep up at points. Second, the weird shots of people in underwear standing in the male and female symbols made the show look tacky; Channel 5-esque.

The documentary tries to unlock the hidden world of the 'intersex', who have been hidden through shame, fear and bigotry. It is estimated that disorders of sexual development (DSDs) affect nearly one in 50 people – the same number of people born as twins, or with red hair. DSDs covers around 12 disorders or sexual variations, but there are variations within these separate categories. Doctors and health professionals look at five main factors when determining sex, but these are not an 'either or' – they can be somewhere in-between. Initially, they look at the chromosomes – if the child has two X chromosomes they are genetically female, one X and one Y and they are genetically male. Then they consider reproductive cells (do they have ovaries or testes?), organs such as a womb, and finally look at what hormones are produced, and this will affect the development of the genitals.

The documentary gives the accounts of many professionals working in the field and many people affected by DSDs, often told through actors and blurred images to conceal their identities due to fear and (unnecessary) shame. For me, Janet's life story is possibly the most powerful television I have ever watched; it is truly inspirational to see how she struggled to break the shame and stigma through her life, and how she has overcome the odds to become a mother. Janet tells us: 'When my grandfather learnt there was a question of my sex it was suggested by him that they just let me die'.

Dr Tiger Devore, a psychologist and sex therapist born with a DSD, is a strong believer that medical professionals have often been too quick to resort to surgery at a young age. This can lead to problems in later life as the child develops, with some people calling surgery on DSD children mutilation. This is a theme which is heavily explored in the documentary.

Katie's story is different - when she was born there was no question over her sex; she was thought to be typically female. It was not until she was five and undergoing a hernia operation in which the surgeons found testes that any doubt occurred. It turned out that while Katie looked and felt like a female, she was genetically male with an X and a Y chromosome, and no womb. Even as doctors, Katie's parents were shocked and confused, her mother explained: 'What we were taught in medical school was that these women were not to be told their diagnosis of their chromosomes or that they had testes because it would be so devastating to them they would commit suicide'.

The history of how clinicians have dealt with people suffering from DSDs is shocking, and thankfully incredibly different to the nature of treatment today. Now, people are supported by multidisciplinary teams and helped not to feel shame or fear.

Finally, an anonymous person with partial androgen insensitivity syndrome (a condition where intersex females have XY chromosomes, and look male at birth) was interviewed. She described how, despite the fact doctors wrote 'male' on her birth certificate and she was raised as a boy, she now identifies herself as female. During puberty she developed female characteristics, causing both herself and her family to suffer abuse and bigotry. She now also faces a legal challenge – because she has the genetic makeup of a male, she cannot marry a man – they may only have a civil partnership.

Lord Stevenson of Balmacara (who has a mild form of hypospadias, which is 'where the hole through which urine and semen leave the body is not located at the tip of the head of the penis') feels that when the Gender Recognition Act was formulated in 2004 it did not adequately deal with XY-chromosome women. Such legal quirks cause many people with DSDs problems when interacting with the state, and as a budding lawyer, the legal issue caused by DSDs fascinated me.

This documentary is more thought-provoking and insightful than I am able to express in this review, and so I urge you watch this documentary – it is truly enlightening.

 

SOURCES & REFERENCES
BBC | 11 October 2011
 

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