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The Fertility Show, Manchester Central, 24-25 March 2018

Issue 617 (25 July 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 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.





News Digest




Preconception testing and screening: Has the HGC covered all the bases?

25 July 2011

By Dr Ainsley Newson

Senior Lecturer in Biomedical Ethics, Centre for Ethics in Medicine, University of Bristol

Appeared in BioNews 617
Has the Human Genetics Commission (HGC)'s recent report on population-wide preconception genetic testing and screening (1) convincingly demonstrated that this practice raises 'no specific ethical, legal or social principles' that would make population screening unacceptable?

In BioNews 606, I critiqued Dr Callum MacKellar's commentary on the report (2). At the end of my commentary, I alluded to issues I think the HGC didn't address in enough depth. This doesn't mean that preconception screening is unacceptable, but we should pay more attention to these issues before introducing population-wide preconception screening.

I'm concerned about three things. First, the HGC has adopted an 'apple pie' version of reproductive autonomy, viewing this concept as an intrinsic good (an issue Dr MacKellar also recognises). Second, the Commission has failed to justify why it has decided to offer screening to mature school students. Third, the HGC has glossed over the implications of communicating screening results to family members.

The HGC states that 'respect for reproductive autonomy implies that a range of reproductive options should be available' (p1). They claim their proposals for population screening in young people are an extension of screening pregnant women that will increase choice and enhance reproductive autonomy. This seems to suggest that reproductive autonomy is an inherent good.

I don't wish to underplay the right of women or couples to make informed and free decisions before and during pregnancy. But there is significant debate in bioethics and social science about the nature of and appropriate limits to reproductive autonomy, for example the myriad discussions over how women's decisions are influenced. The HGC report seems not to recognise these nuances.

The HGC also implies, somewhat simplistically, that increased choice equals enhanced reproductive autonomy. There are various theoretical and empirical reasons why this is not always the case, which we must recognise before rolling out preconception screening.

Gerald Dworkin, for example, argues that - in society in general - increasing people's choices can impose extra decision-making and social pressure costs, and forces people to shoulder greater personal responsibility for their decisions (3). Dr Abby Lippman also points out that structural constraints on choice (such as a limited time to make a decision) and an over-emphasis on individual decision-making without recognition of our relationships to others can risk women's well-being (4).

The National Screening Committee, in whose hands the HGC report now rests, should explore the concept of reproductive autonomy in greater depth if the report is to become a foundation for policy-making. If testing options are going to be increased then we need to make sure that the additional choices are good ones.

The second issue the HGC underplays is who should be targeted with offers of screening. The Commission discusses offering testing to older school children and young people, but does not justify why this group has been chosen.

Young people may be an ideal group for offering testing and screening programmes involving them in other countries have been successful. Older school children are easily accessible and less likely to have children than young adults.

However, testing in schools may lead to issues of individual freedom versus peer uptake. For example, those offering testing in schools would need to ensure the young person being offered the test was making a genuinely free decision and not following her friends' decisions.

Questions also remain about how well young people understand and remember genetic information and how longer-term follow-up (such as testing future partners if needed) would be managed.

While the practical benefits of testing young people may outweigh these concerns, we should consider alternative population screening targets before deciding on this group. Two alternatives could be offering screening when people apply for a full driving licence or when they register on the electoral roll for the first time. None are perfect, but the target population for preconception screening should be carefully evaluated.

A final practical point is we need to think about how information from large-scale screening is passed on to previously-unaware family members. This may include respecting their 'right not to know' their genetic risk.

The HGC has not convincingly shown that preconception screening carries no specific ethical, legal or social issues; the three I've raised here are some examples. These issues should not necessarily spell the end of preconception screening, but the National Screening Committee should consider all these points before implementing any national policy.

Human Genetics Commission, London: Department of Health | 2011
BioNews 606 | 09 May 2011
3) Dworkin, G. Is more choice better than less?
The Theory and Practice of Autonomy. Cambridge: Cambridge University Press | 1988
4) Lippman, A. Choice as a risk to women’s health.
Health, Risk & Society, 1(3):281-291 | 1999


29 June 2015 - by Dr Alice Maynard 
I served on the Human Genetics Commission as a lay member from 2006 to 2012, and found exploring new developments in this area fascinating...
01 August 2011 - by Rosemary Paxman 
Personal genomics company 23andMe is launching an initiative aiming to shift the balance of participation in both personal genomics and genetic research towards African-Americans...

09 May 2011 - by Dr Ainsley Newson 
As highlighted in BioNews, in early April 2011 the UK's Human Genetics Commission (HGC) published a report supporting preconception genetic testing and screening (1). Preconception screening, which can be broadly described as identifying carriers of genetic mutations to inform reproductive decision-making for the person tested or his/her relatives, is well established in some jurisdictions but relatively unknown in the UK...


Improve donor recruitment: listen to donors

25 July 2011

By Kriss Fearon

Trustee of the National Gamete Donation Trust (NGDT)

Appeared in BioNews 617
Some of the most persuasive advocates for egg and sperm donation are donors. We become donors because we care about others and are proud of our decision to help infertile people build families. But donors' voices are seldom heard and it's too easy to overlook the impact of our experiences on donor recruitment.

It is vital to reassure people, who are not paid to do a task, that they are important and valued: that is usually what motivates them. With donors, the intangibles really matter: being treated with respect proves - more than words alone - that what we're doing is worthwhile.

Over its 13-year lifespan, the National Gamete Donation Trust (NGDT) has been in contact with hundreds of people enquiring about becoming a donor and many who went on to donate. That's given us a great understanding of what motivates and deters donors. We've heard it all and, unfortunately, the stories aren't always positive. One donor told us recently: 'The clinic didn't care and seemed to see me as burden and a necessary evil that they had to endure - they could have improved quite easily on that!'

Hearing about situations where simple improvements (such as messages returned promptly and clear communication) would have made all the difference to a donor's willingness to donate again is frustrating. After all, in today's climate, there are calls to pay donors to improve recruitment because donor shortages are so great.

Without formal research, this knowledge is 'anecdata'. This means that - when the Trust makes recommendations on how to improve recruitment by improving the way donors are treated - we are not always heard. So we're putting things on a more formal footing by surveying donors and enquirers.

We're using a professional researcher - Dr Laura Machin of Lancaster University - to analyse the survey results. She will find out how the experience of becoming an egg or sperm donor can be improved. We will use this evidence to make practical recommendations to improve donor care.

The study will last a year, from June 2011 to June 2012, and will use data collected anonymously with online questionnaires. We are targeting donors at two stages: first, as enquirers, and second, after a donor has completed his or her donation cycle.

The questionnaires ask about key aspects of customer care through each stage of the donor's experience, from initial contact and information gathering to giving their donation to finding out the outcome. We are particularly interested in communication with the clinic, counselling and the experience of making the donation.

There is also a survey to find out why people who enquired about becoming a donor decided not to go ahead. Many choose not to become donors for reasons unrelated to their eligibility. They are already interested in donation and potentially open to persuasion. By identifying and addressing their concerns more effectively, we can increase the number of enquirers who go on to become donors.

The results will be of interest and value to academics, policy makers, donors and - most of all - to clinic staff, who have a big influence on a donor's experience. Laura Witjens, Chair of the NGDT, said: 'this is the first and best opportunity to understand what really motivates donors and how we can get more people donating. Clinics and others in the sector would be well advised to pay attention to the results, see what lessons can be learned and act on them to improve recruitment'.

The NGDT has already been in touch with clinic donor coordinators and counsellors to ask for help in recruiting participants. We are sending out information packs to clinics in September. The survey is also linked from the NGDT home page: You can keep up to date with progress via the NGDT website. If you want to find out more, please email Pip Morris, the NGDT National Coordinator, on

Donors are not a silent partner in the journey to create a family - we don't appear from nowhere and disappear into the ether never to be seen again. We talk about our decision with our family and friends. We give interviews to the media. We give potential donors the lowdown on what it's really like. When donors are treated with care and feel valued, we're more likely to donate again and to encourage others to donate. Respect matters.



28 July 2014 - by Natasha Canfer 
In July 2014, the Department of Health announced that it had awarded the National Gamete Donation Trust funding to set up an independent National Sperm Bank in partnership with Birmingham Women's Hospital....
22 August 2011 - by Dr Vivienne Raper 
UK Donor Link (UKDL) - the voluntary contact register for adults conceived with or who donated sperm or eggs before August 1991 - is threatened with closure...
08 August 2011 - by Julianna Photopoulos 
The London Sperm Bank (LSB) is to launch an online 'dating agency-style' catalogue listing the appearance, physique and personalities of its sperm donors...


No action to be taken on fertility clinic that implanted wrong embryo

25 July 2011

By Ayesha Ahmad

Appeared in BioNews 617

A fertility clinic in Hong Kong has admitted to implanting two embryos into the wrong woman earlier this month. The embryos, belonging to another patient at the clinic, were reported to have been removed and discarded by the clinic upon discovery of the mistake. The women affected are said to have received counselling and compensation from the clinic.

The government's Council on Human Reproductive Technology investigated the incident but has decided not to take action against the Victory ART (assisted reproducitive technology) clinic, which also has branches in the Philippines and Malaysia. It concluded the mistake was down to 'human error' rather than a systemic fault, finding the incident followed a junior embryologist's failure to adequately check the labels.

Acting secretary for food and health, Professor Gabriel Leung, said he is supportive of the outcome of the investigation: 'We believe that due process has been followed, and the department of health will continue to assist the Council in the enforcement'.

IVF patients, including those who have been patients at the Victory ART clinic, have expressed anger on Internet forums. Some have voiced concerns that such an error may have occurred previously and are requesting DNA tests for their children to confirm their biological parentage.

The clinic has remained open throughout the Council's investigation. It says it has improved its checking procedures and has now introduced a double-check method.

RTHK English News | 16 July 2011
BBC News | 18 July 2011
Evening Standard | 18 July 2011


22 August 2011 - by Dr Vivienne Raper 
Mistakes in IVF treatment more than trebled in Britain during the last three years, according to figures from the UK's fertility regulator....

13 September 2010 - by Rose Palmer 
A new technology used by Hull IVF unit to prevent clinical mix-ups when sperm and eggs are combined in the laboratory is to be rolled-out for use across the UK, and has been nominated for an award...
04 May 2010 - by Seil Collins 
The number of reported mistakes at IVF centres in England and Wales has doubled over one year, rising from 182 in 2007/08 to 334 in 2008/09. Incidents range from technical failures to serious mix-ups. Cases where embryos have been lost, implanted into the wrong patient, or fertilised with the wrong sperm have all been reported....
28 September 2009 - by Ailsa Stevens 
A woman from the US has given birth to another couple's baby after being implanted with the wrong embryo during her IVF treatment. Caroline Savage and her husband, Sean found out about the mistake when the clinic rang Mr Savage in February. But rather than abort the pregnancy, as the clinic suggested, the couple have elected to give the child back to its biological parents after the birth....
15 June 2009 - by Ailsa Stevens 
An embryo belonging to a couple being treated at a Cardiff fertility clinic was accidentally implanted into the wrong woman and subsequently destroyed. The prospects of Deborah, who is 40, having another child with her partner Paul, 38, are slim and both are said to be devastated that their last hope of conceiving a sibling for their six-year-old son has been lost....
30 October 2000 - by BioNews 
Embryologist Paul Fielding was arrested last week in connection with the alleged embryo mix-up at two Hampshire fertility clinics. A police investigation was launched last month, after internal inspectors identified inconsistencies between the recording and storage of frozen embryos belonging to 39 couples. In a statement, police said: 'Hampshire Police...


Warning over animal-human hybrids

25 July 2011

By Dr Rachael Panizzo

Appeared in BioNews 617

Medical research involving animals that contain human material (ACHM) raises new ethical concerns and should be more tightly regulated, warns a new report by the Academy of Medical Sciences.

It recommends that the creation of embryos that are 'predominantly animal' but contain some human cells should be restricted and a national expert body should be established to oversee and regulate ACHM research.

An expert working group, chaired by Martin Bobrow, Professor Emeritus of medical genetics at the University of Cambridge, said research should be banned if it involves the creation of animals with complex cognitive abilities, human-like behaviour, or characteristics such as self-awareness, reasoning and language that would raise their moral status to that of the great apes or humans.

'This is a complex research area and there should be ongoing dialogue between scientists, regulators and the wider public to address emerging issues', said Professor Bobrow. 'Our report recommends that the Home Office puts in place a national expert body, within the existing stringent system of animal research regulation, to provide specific advice on sensitive types of ACHM research'.

Research involving ACHM includes the creation of animals that have had human DNA sequences or human cells incorporated into them. The animals are primarily used to study human diseases and to develop new therapeutic products. Most of this research involves mice, as well as fruit flies, zebra fish, rats, sheep and goats.This type of research is not new, and the majority is already adequately regulated in the UK, the report says. But the working group also considered potential types of future research that might transgress ethical boundaries.

'If you start putting very large numbers of human brain cells into primates, suddenly you might transform primates into something that has some of the capacities that we regard as distinctively human', said Professor Tom Baldwin, a philosopher at the University of York and member of the working group. 'These possibilities, at the moment, are largely being explored in fiction but we need to start thinking about them now'.

Research that involves the creation of embryos containing a mixture of human and non-human primate cells should also be banned, the report recommends. At present, human embryos containing animal cells are not allowed to develop beyond 14 days under UK law. No similar regulation exists for embryos that are 'predominantly animal' but contain some human cells, and the report recommends that this should be restricted. The breeding of animals that can produce human sperm or egg cells should also be restricted, in order to prevent the creation of human-animal hybrids, the report states.

An Ipsos MORI study commissioned by the working group found that the public were largely supportive of most types of ACHM research. For the most part the respondents did not perceive it to be significantly different from animal research, and were mainly concerned about animal welfare.

Starting an open and inclusive dialogue is important, said Professor Robin Lovell-Badge, a member of the expert working group and developmental biologist at the National Institute of Medical Research in London. 'We don't want scientists to cause problems for the future by overstepping the mark of what is publicly acceptable'.



The Academy of Medical Sciences | 22 July 2011
BBC News | 22 July 2011
Daily Mail | 22 July 2011
Nature News | 21 July 2011
Wellcome Trust | 22 July 2011
UK scientists call for new agency to oversee experiments mixing human and animal cells
The Washington Post | 22 July 2011


09 August 2010 - by Dr Gabrielle Samuel 
From watching the trailers for Splice, I thought the film centred on a genetic engineering experiment gone awry - mutants taking over the world and so on. Sadly not. At least if it had, it would be based on a storyline which - although tiresome - is proven to work. Not only that, but this horror of a horror film was far from scary...
12 October 2009 - by Antony Blackburn-Starza 
The UK's Independent newspaper has claimed that all research involving 'hybrid' embryos has been refused financial backing from the UK's research councils and has warned that scientists are taking their research abroad...
19 January 2009 - by Dr Nadeem Shaikh 
A type of controversial admixed embryo research may now grind to a halt due to a lack of funding. Three research groups in the UK have licences to generate 'cytoplasmic hybrid' embryos, but none of them have managed to secure the money they need to proceed. The...


More funding needed for UK to maintain its place in regenerative medicine research

25 July 2011

By Julianna Photopoulos

Appeared in BioNews 617

Funding from private, non-profit, and public sectors will be needed for the UK to maintain its 'world leading' role in regenerative medicine, according to a recent Government strategy report.

The report commits officials to consult widely with industry and medical research charities to explore new funding options both within the UK and internationally. However, it highlights that the high cost of initial treatments 'are likely to be expensive and could challenge existing models of funding, reimbursement and commissioning'.

The report sets out ten actions the Government will take to support the sector going forward. David Willetts, Minister of State for Universities and Science, said: 'Regenerative medicine has great potential to deliver new therapies and benefit the UK economy. This report demonstrates that we retain a world leading position in this area and highlights the Government's commitment to tackling the field's strategic challenges through greater coordination and focussed support'.

Regenerative medicine is the process of creating living, functional tissues to repair or replace tissue or organ function lost due to damage, or congenital defects. A number of medical conditions, such as diabetes and heart disease, are the result of damaged tissues or organs that the body can't heal itself. By using regenerative medicine there is hope that people with these conditions can be treated.

The report assesses the state of regenerative medicine internationally and analyses the UK's strengths, weaknesses, and areas of opportunities. Despite greater funding in the field, notably in the USA, the report notes the UK's scientific breakthroughs to date and its record of strong international research cooperation. It says regenerative medicine in the UK has more unambiguous regulatory and legislative support than in the USA.

Mr Willets emphasised that the UK will seek to maintain the existing intellectual property regime that allows patenting of stem cells, in the face of a recent opinion from the European Advocate-General that risks undermining the current position across the European Union (see BioNews 601).

The authors state the report, 'provides the UK Government with a strong evidence base on the basis of which it can coordinate funding decisions, and lays the ground-work for an agreed strategy for regenerative medicine'. However, it also cautioned that the long time-scales involved in developing regenerative medicine made it difficult to attract venture capital funding, although there was some interest from the pharmaceutical industry.

BIS press release | 27 January 2011
BIS press release | 18 July 2011
Becky's Policy Pages | 18 July 2011
BIS report | 18 July 2011
Financial Times | 17 July 2011


14 October 2013 - by Julian Hitchcock 
Since the Coalition came to power, we've grown used to its backing of science and technology. So, when the Government published its response to the House of Lords Science and Technology Committee Inquiry into Regenerative Medicine last week, there was barely a murmur from the sector as recommendation after recommendation was endorsed and translated into action....
08 July 2013 - by Antony Blackburn-Starza 
A House of Lords committee has said the UK is currently underprepared for developments in regenerative medicine and called on the Government to act to ensure the UK maintains its leading role in the field....
20 August 2012 - by Dr Emily Culme-Seymour 
The UK House of Lords Science and Technology Select Committee has launched an inquiry into cell therapy and regenerative medicine to take place this autumn...
25 June 2012 - by Antony Blackburn-Starza 
Six major UK research funding bodies have called for the continued funding of human embryonic stem cell (hESC) research in the EU's programme for research and development...
31 January 2012 - by Dr Dusko Ilic 
In the last few months of 2011, a couple of stories on human embryonic stem cells hit the headlines. Both were bad news for stem cell researchers...

13 June 2011 - by Gareth Johnson MP 
IVF is one of Britain's greatest inventions. Professor Robert Edwards received the Nobel Prize for Medicine for his pioneering work developing this fertility treatment and - in the last week - it has been announced that he will be knighted in the Queen's Birthday Honours list. The result of Professor Edward's work was Louise Brown, the world's first so-called 'test tube' baby. Britain, more than any other country, should be championing the use of IVF treatment...
13 September 2010 - by Antony Blackburn-Starza 
A federal appeals court in the US has ruled that federal funding for embryonic stem cell research may continue and an injunction placed on the funding by a lower court last month is temporarily suspended...
02 August 2010 - by Professor Sarah Franklin, Dr Nick Hopwood and Professor Martin Johnson 
In 1971, reproductive biologist Dr Robert Edwards and gynaecologist Mr Patrick Steptoe applied to the UK Medical Research Council (MRC) requesting funding for research into human in vitro fertilisation and embryo transfer. Their application was rejected...


Genetic sperm 'invisibility cloak' clue to infertility

25 July 2011

By Dr Kimberley Bryon-Dodd

Appeared in BioNews 617

A team of international scientists has found a common genetic variant which may explain why some men with normal sperm counts and good quality sperm are affected by infertility.

The study findings suggested that men with a variation in a gene which codes for a sperm-coating protein called beta defensin 126 (DEFB126) have a reduction in the protein coat on the outside of the sperm which makes it difficult for the sperm to 'swim' to the egg.

Dr Edward Hollox of the University of Leicester and co-author of the study said: 'If you've got this gene variant you should allow that little bit longer if your partner's planning to get pregnant'.

The researchers, including scientists from the University of California and the Anhui Medical University in China, carried out the study on over 500 newly-wed Chinese couples who were trying for a baby. They found that when men's sperm lacked a coat of the DEFB126 protein, their wives were significantly less likely than expected to become pregnant.

Previous studies have shown that two copies of the genetic variant may be found in up to one quarter of men around the world, with about half of all men having one copy. The DEFB126 protein coat helps sperm to swim through cervical mucus and evade the woman's immune system, as well as enabling it to attach to the walls of fallopian tubes.

The study showed, however, that men with two copies of the variantproduced sperm that were less able to swim through a substitute to cervical mucus, hyaluronic acid gel. In macaques, it has already been shown that this protein is important in evading the immune system and the researchers believe the protein coat plays the same role in humans.

Commenting on the study, Dr Allan Pacey, senior lecturer in Andrology at the University of Sheffield, said: 'We actually understand very little about the subtle molecular events which occur in sperm as they make their journey through the woman's body to fertilise an egg'.

The research was published in the journal Science Translational Medicine.

BBC News | 21 July 2011
Science Translational Medicine | 20 July 2011
New Scientist | 20 July 2011


15 October 2012 - by Chris Baldacci 
A gene mutation has been associated with sperm motility and production, offering new insights into male infertility....
01 October 2012 - by Daryl Ramai 
Adding a missing protein to infertile human sperm gives the sperm the ability to successfully fertilize an egg, a lab-based study reports...
15 May 2012 - by Dr Victoria Burchell 
In sex education videos the race of sperm to the egg is portrayed like an Olympic swimming final as sperm surge purposefully down the female reproductive tract to the finish line. The reality, however, may be rather less elegant...
08 May 2012 - by James Brooks 
A gene which helps sperm bind to an egg has been identified by scientists. Sperm-to-egg binding is an essential process during fertilisation and although the preliminary studies were performed on mice, the gene may represent a new target for infertility treatments...
05 September 2011 - by Dr Lux Fatimathas 
Researchers have discovered a molecule present on the outer surface of a human egg that binds sperm and eggs together before fertilisation. Understanding this mechanism may help people with previously unexplained fertility problems...

28 March 2011 - by Dr Gabrielle Samuel 
Researchers in Japan have successfully grown sperm for the first time in a study that could eventually help preserve the fertility of cancer patients and help infertile men have children....
21 February 2011 - by Sujatha Jayakody 
A bone cell hormone can regulate male fertility hormone testosterone, a study on mice has found. Male mice engineered to produce little osteocalcin, a hormone released by bone cells called osteoblasts, had smaller litters and testes than unmodified mice...
24 January 2011 - by Dr Marianne Kennedy 
Couples struggling to conceive may be more likely to have a child if the man takes certain vitamins or other antioxidants, according to scientists....


Genomic studies focus too heavily on Europeans

25 July 2011

By Heidi Colleran

Appeared in BioNews 617

Ethnic and racial minorities are in danger of missing out on future medical advances - based on genetic research – because they are under-represented in basic studies, says a review published in Nature Genetics by a team of geneticists from Stanford University and University of California, San Francisco.

'Geneticists worldwide must investigate a much broader ensemble of populations, including racial and ethnic minorities', said Professor Carlos Bustamante of Stanford University, who co-authored the paper. 'If we do not, a biased picture will emerge of which variants are important, and genomic medicine will largely benefit a privileged few'.

The paper argues that a Euro-centric approach to genetic research has led to a neglect of the rare genetic diseases particular to ethnic and racial minorities. In order to understand these rare diseases, researchers need to trace the origin of genetic variants that originated within, and are specific to, particular populations.

The review follows a 2009 paper which found that 96 percent of all genome-wide association studies (GWAS) were carried out on people of European ancestry. GWAS are said to be the gold standard for genetic research. The entire genome of an individual is sequenced and compared to hundreds or thousands of others to check for differences in DNA and researchers hoped that GWAS would help them understand how genetic diseases are passed on from one generation to another.

Previously it was thought that inherited diseases are due to genetic variants that are commonly held across different populations. This would mean that findings in one population could be generalised to others. Now, however, it is understood that the genetic basis of many rare, inherited diseases, is itself due to rare genetic mutations shared by people of a particular ethnic origin.

A recent analysis of how genetic variation differs by ethnic groups showed that genetic variants relevant to disease are often specific to one population, and so may not show up in the genomes of another. For example, genetic variants linked to diabetes risk in Europeans do not appear in other populations.

The problem that Professor Bustamante and colleagues point out in their review is that since only four percent of GWAS studies to date include individuals of non-European ancestry, their genomes are simply not being adequately represented in genomic research.

Yet the implications are especially strong for those with rare genetic diseases that are found only within a particular ethnic minority. As Professor Bustamante says, with the ever-reducing costs of sequencing the full genome, this exclusivity can no longer continue. He cautions that if genetic research does not adequately represent the diversity of groups that makes up the human population, 'a biased picture will emerge of which variants are important, and genomic medicine will largely benefit a privileged few'.


17 October 2011 - by Nishat Hyder 
'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'...
10 October 2011 - by Oliver Timmis 
The Faroe Islands is set to become the first region to sequence the genome of its entire population....
05 September 2011 - by Dr Marianne Kennedy 
In an international research effort led by Imperial College London, scientists have identified six new genetic variants linked to type 2 diabetes (T2D) in South Asians....
26 August 2011 - by Aaron Parkhurst 
Philosopher Langdon Winner rather poetically refers to scientific public engagement as 'technological somnambulism'. The image he invokes is that of a vast network of societal sleepwalking; interacting but not engaging. This is especially true within a biomedical context. Whenever an inventive entity creates novel technologies, he or she inspires and develops two important constructs. The first is the physical instrument, or perhaps something less concrete, such as an idea or methodology...
08 August 2011 - by Dr Rosie Gilchrist 
King Tutankhamun shares ancestors with more than 50 percent of Western European men, according to a personal genomics company in Switzerland....

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...
28 June 2010 - by Dr Vivienne Raper 
The largest study of genetic differences between people to date - the 1,000 Genomes Project - has completed its pilot studies. The data is now freely available...
30 November 2009 - by Dr Will Fletcher 
The first genetic historical map of the Han Chinese has been published in the American Journal of Human Genetics by scientists from the Genome Institute of Singapore (GIS). Based on genome-wide variation in 8,200 individuals, the new map has provided many insights into the evolutionary history and population structure of the Han Chinese which is the largest ethnic population in the world. The map is of great importance as it has helped uncover subtle differences in the genetic ...
12 October 2009 - by Dr Jess Buxton 
Companies offering 'direct-to-consumer' genetic tests to predict the risk of common conditions such as heart attack and rheumatoid arthritis should provide more information to consumers about the limitations of their services, say US scientists. Their recommendations follow the finding that several tests from two such companies gave different results for the same five individuals. Genome pioneer Craig Venter and colleagues also call for more research into the predictive power of geneti


Passive smoking damaged the DNA of mouse sperm

25 July 2011

By Rosemary Paxman

Appeared in BioNews 617

Passive smoking may harm the DNA in sperm, a new study in mice has suggested. If the findings are replicated in humans, genetic defects linked to passive smoking could be passed on to children, the researchers suggest.

'Recently, the International Agency for Research on Cancer concluded that there is enough evidence to link paternal smoking in humans with increased risk of childhood cancer, suggesting that tobacco smoking causes heritable germ cell mutation in humans', explained Francesco Marchetti, of the Lawrence Berkeley National Laboratory in California, USA who was involved in the study.

Thirty-two mice were exposed to differing quantities of smoke to model the effects of low and high doses in direct and passive smoking. The frequency of genetic mutations observed in the sperm of control mice, which were not exposed to smoke, was between 1.3 - 1.5 percent. This increased to four percent for low doses and 4.7 percent for high doses in mice exposed to mainstream smoke (simulating direct smoking).

In mice administered with side-stream tobacco smoke (simulating second-hand smoke), the rates were 4.6 percent for low doses and 2.6 percent for high doses. The researchers described the results as providing 'compelling evidence in support of the argument that passive smoking should be regarded as a germ cell mutagen in humans'.

'Our data suggests that paternal exposure to second-hand smoke may have reproductive consequences that go beyond the passive smoker', conclude the researchers, led by Professor Carole Yauk of Health Canada in Ottawa.

Dr Allan Pacey, fertility expert from the University of Sheffield, said: 'What we don't know, and what we overlook, is the influence of passive smoking. I guess it's no surprise that passive smoking causes the same kind of damage, because you're just inhaling the same stuff, albeit at different levels'.

He also added that the degree of 'passive smoking' the mice were exposed to was greater than typical human levels.

Advice for fathers-to-be is clear, outlines Dr Pacey: 'If you're trying to conceive, stopping smoking is good advice and removing yourself from the influences of passive smoking. The advice to any man who wants to be a father is to stop smoking at least three months before he tries'.

The findings were reported in Proceedings of the National Academy of Sciences.


14 January 2013 - by Emma Stoye 
The Department of Health has launched an advertisement campaign aiming to highlight the unseen damage caused by smoking...
18 June 2012 - by Helen Brooks 
An unhealthy lifestyle may not affect sperm quality as much as previously thought. A study in the journal Human Reproduction indicates that smoking, high alcohol consumption and being overweight all have little effect on semen quality...

09 August 2010 - by Victoria Kay 
A chemical found in some common plastics may be linked to reduced fertility in men, according to a new report. A US study found that men with the highest levels of Bisphenol A (BPA) in their urine had a sperm count 23 per cent lower on average than those with the lowest BPA levels...
10 May 2010 - by Professor Allan Pacey 
Nearly 10 years ago, Professor Niels Skakkebæk from the Copenhagen University Hospital, published details of a new syndrome to account for the apparent increase in problems related to the male reproductive system that had been documented in many countries...
07 December 2009 - by Dr Rebecca Robey 
Mice produced in the laboratory from two biological mothers and without a father have been found to live significantly longer than normal mice bred from a mother and a father. These findings indicate that genetic traits inherited from the father but not the mother may play an important role in ageing and longevity....


Longevity study short-lived: Science retracts genetics of ageing paper

25 July 2011

By Dr Lux Fatimathas

Appeared in BioNews 617

The journal Science has retracted a controversial paper on the genetics of extreme longevity by scientists at Boston University. The paper, released online last year, was retracted before publication in print following a formal 'expression of concern' regarding fundamental technical flaws.

The genome wide association study (GWAS), led by biostatistician Professor Paola Sebastiani, analysed the genomes of over 1000 centenarians to determine whether there was a genetic component to long life. DNA sequence analysis was conducted to identify genetic markers called SNPs. The authors claimed to identify 150 SNPs with the potential to determine an individual’s likelihood of living to 100 years or more.

An advanced online publication of the study led to significant criticism of the findings from the scientific community. This culminated in Professor Bruce Alberts, editor-in-chief of Science, publishing a formal 'expression of concern' in November 2010. This critique highlighted numerous technical flaws, including the differential treatment of control and centenarian cohorts used in the study and quality control issues resulting in false positives.

In response to mounting concern, the authors of the study reanalysed the data with the help of an independent, external laboratory. A corrected manuscript was submitted in December 2010 and was once again subject to peer review. However the new submission fell short of the journal's GWAS requirements. Consequently the authors agreed to a retraction, though still stood by their main findings.

'We feel the main scientific findings remain supported by the available data…However, the specific details of the new analysis change substantially from those originally published online to the point of becoming a new report. Therefore, we retract the original manuscript and will pursue alternative publication of the new findings', stated the authors of the study.

The editors at Science released an accompanying statement to squash any potential implications of fraudulent activity. 'Science emphasises that there was no misconduct by [Professor] Sebastiani and colleagues. The researchers worked exhaustively to correct the errors in the original paper and we regret that the outcome of the extensive revision and re-review process was not more favorable'.

The current revelations have spurred a debate over the effectiveness of the peer review process, which did not pick up on the flaws of the paper during the first submission. In defence of the process Professor Alberts said: 'I think everybody recognises that the review process is far from perfect. By and large it works, but it doesn't work every single time'.

The retraction notice was published this week in Science.

Wired | 21 July 2011
Nature News | 21 July 2011
NPR | 22 July 2011
Researchers withdraw study on long life genes but defend findings and will rewrite it
Washington Post | 21 July 2011
Science Insider | 21 July 2011
Retraction Watch | 21 July 2011


07 August 2017 - by Rachel Siden 
The original paper promoting a new genome editing technology known as Natronobacterium gregoryi Argonaute (NgAgo) has been retracted...
02 February 2015 - by Dr Victoria Burchell 
A genetic variant may not only help some people live longer, but also changes the way their brain ages, a study suggests....
18 November 2014 - by Sean Byrne 
Scientists are still searching for a key piece of the longevity puzzle, having not found anything remarkable in the genes of 'supercentenarians' - people who live beyond 110 - to explain their long lives...
28 May 2013 - by Richard Fadok 
A group of anonymous scientists has voiced concerns about a controversial stem cell finding published online in Cell earlier this month, causing the journal to begin an investigation...
16 January 2012 - by Ruth Saunders 
Stem cell injections have been found to slow down the effects of aging in mice. Researchers have developed a stem cell treatment that significantly slows down aging and increases life span in mice with progeria, a rare genetic disease causing advanced aging...

18 April 2011 - by Dr Nadeem Shaikh 
A research team from King's College London led by Dr Guangju Zhai has completed a meta-analysis of seven genetic studies looking at the role of the hormone, dehydroepiandrosterone sulphate (DHEAS), and how it may affect the ageing process in humans...
06 December 2010 - by Owen Clark 
Serious doubts have been raised over the validity of a study on the genetic basis on longevity published in the journal Science....
27 September 2010 - by Dr Jay Stone 
Questions continue to be asked after Dr Savio Woo, a gene therapist at the Mount Sinai School of Medicine in New York, was forced to retract two more of his papers last week. Dr Woo has retracted six papers this year after two of his post-docs, Li Chen and Zhiyu Li, were accused of scientific misconduct....
12 July 2010 - by Chris Chatterton 
Last week, BioNews reported on a study published in Science that claimed to have identified several gene clusters associated with longevity. The study drew significant media interest but, following the paper's publication, experts have raised concerns about the data...
03 August 2009 - by Sarah Pritchard 
A paper published in the journal Stem Cells and Development announcing the creation of human sperm cells from embryonic stem cells has been withdrawn because it contains plagiarised material....


Brain scans find similarities in children with autism

25 July 2011

By Mehmet Fidanboylu

Appeared in BioNews 617

Children with autism and their siblings share similar patterns of reduced activity in brain regions linked to empathy, according to new research carried out at the University of Cambridge, UK. The researchers believe these findings could lead to a greater understanding of the role of genes in autism and the development of techniques for predicting the risk of developing autism in the future.

The study, which was carried out by a team of researchers led by Dr Michael Spencer with the backing of the Medical Research Council's Cognition and Brain Sciences Unit, used functional Magnetic Resonance Imaging (fMRI) to detect active areas of the brain in response to images of different human expressions.

The researchers initially compared the brains of autistic children to children with no family history of autism and found those with autism displayed reduced brain activity in regions involved in responding to other people's emotions. This is not a new finding – a known feature of autism is a difficulty in detecting emotional signals such as body language and facial expressions. However, when the researchers went on to look at the unaffected siblings of the children with autism, they found a very similar pattern of reduced activity in the same brain regions.

Dr Spencer said: 'We were struck by how similar the activity was in unaffected brothers and sisters compared to their sibling with autism. [This] seems to suggest that this is a shared pattern of activity due to inherited genes that may make family members at increased risk of autism'.

Previous research has demonstrated there is a genetic basis for autism – children with an older sibling with autism are twenty times more likely to be autistic than the general population. What remains unclear, however, is why this is the case, and which genes are associated with the increased risk of developing autism. This new study, published in the journal Translational Psychiatry, is the first to link the ability to recognise facial emotion in siblings with and without autism.

Dr Spencer added: 'The brain's response to facial emotion could be a fundamental building block in causing autism and its associated difficulties. It is likely that in the sibling who develops autism, additional, as yet unknown steps – such as further genetic, brain structure or function differences – take place to cause autism'.

While the authors of the study are hopeful that the research could lead to improved screening or even treatment for autism in the future, they believe that these findings are likely to just be the beginning of understanding the many factors that drive the development of autism.

Daily Mirror | 13 July 2011
MRC press release | 12 July 2011
US News Health | 13 July 2011
Metro | 12 July 2011
Time | 13 July 2011


12 June 2017 - by Charlotte Spicer 
Our ability to read people's thoughts and emotions through their eyes is influenced by our DNA, new research suggests...
15 May 2017 - by Dr Marianne Kennedy 
The first batch of baby brain scans was released last week by a landmark UK project to map how the human brain develops in unprecedented detail...
10 September 2012 - by Suzanne Elvidge 
A rare form of autism, caused by a mutation that alters amino acid metabolism, could potentially be treated with a nutritional supplement, according to an international team of researchers...


Event Review: Research with Living Beings

25 July 2011

By Wei Wei Cao

Appeared in BioNews 617

Research with Living Beings

Organised by Keele University

Keele Hall, Keele University, Keele, Staffordshire ST5 5BG, UK

Thursday 30 June 2011/Friday 1 July 2011

'Research with Living Beings', organised by Keele University, Thursday 30 June 2011/Friday 1 July 2011

Against a background of growing controversy over the use of embryos and primates for research purposes, a two-day conference entitled 'Research with Living Beings', funded by the Wellcome Trust, the AHRC Centre for Law, Gender and Sexuality, and the Centre for Law Ethics and Society (Keele), was held at Keele University. To stimulate a genuine interdisciplinary conservation, the conference organisers – Professor Marie Fox and Dr Marie-Andrée Jacob, both from the host university – selected fifteen presentations in various scientific, sociological, ethical and legal fields. The conference was designed to develop cross-national and multidisciplinary insights into the subjects of research with living beings and their connection to personhood.

The conference began with 'Understanding Good Science' by Sir David Weatherall, the chancellor of Keele University. After highlighting the necessity of involving non-human primates in 21st century biomedical research, he argued that while comparatively new research methods, such as human stem cells, might effectively decrease the need for primates, the timescale involved could not be predicted. The keynote address, 'What is a Research Subject', delivered by Professor Chris Thompson of the University of California, Berkeley, claimed that 'good science' involved two interrelated, but robust parts: scientific and ethical work. To promote ethical work in biomedical science she argued that the 'greater moral universe' principle should be applied to moral and regulatory frameworks for using substitute research subjects, such as human embryos. By this she meant the idea that 'if a sizable proportion of a society cares more for a group of beings than I do, unless there are compelling reasons not to, I should strive to support their efforts, including at a societal level'.  

Two leading scientists and an influential UK ethicist contributed to 'Understanding Embryo Research'. Professor Harry Moore (University of Sheffield) and Professor Alan Handyside (University of Leeds), both developmental biologists, argued that developing embryonic stem cell research and PGD was essential to promoting the health and well-being of humans. They said that these 'good sciences' were in urgent need of more donor embryos. Stephen Wilkinson, professor of bioethics at Keele University pointed out that the question of whether embryo research triggered any special ethical issues was not awarded enough significance. Instead of simply answering 'yes' or 'no', he argued that embryonic science required serious ethical consideration. The University of Cambridge's Professor Martin Johnson, and Professor Lynda Birke from Chester University, suggested that the existing line drawn between research subjects and objects was problematic if you attempted to scrutinise the identities of embryos and animals in research. Sarah Chan, of the University of Manchester, argued that the divide between various living beings was not as clear as we might have thought. Thus, an interesting question was raised: 'Is it possible to have a unified framework for research with human and non-human beings?'

Furthermore, increasing research with animal, human and interspecies embryos has provoked legal debates and stimulated engagement with current British and EU regulatory frameworks. By examining the UK regulation of the creation and use of trans-species embryos, Dr Nik Brown and Dr Siân Beynon-Jones, both from the University of York, argued that traditional species hierarchies have been projected onto the British regulatory framework. In turn, the hierarchical position in regulation could eliminate the possibility of applying alternative approaches to humanity and animality. Dr Yoriko Otomo from the University of Melbourne focused her criticism on the EU jurisdiction. She questioned what the nature of a 'good death', in the context of 'good science', might mean, and argued that the European Directive on the protection of animals used for scientific purposes does little to promote this.

The conference ended with a lively roundtable discussion which provided all participants with a chance to contribute their thoughts to issues raised over the two days, and also make future networking plans. The organisers expressed a desire to have more input from policy-makers at future events. This conference was successful in giving a platform for cross-national and multi-disciplinary scholars to have face-to-face exchanges. However it also highlighted the number of unanswered questions in this field, such as: 'Where is the boundary between humans and animals or embryos?'; 'What type of research with these living beings can be labelled as good science?'; and 'How problematic are current British/EU ethical and legal frameworks of research with various living beings?'. These all require further exploration.



12 April 2010 - by Joanne Anton and Danielle Hamm 
The UK's Human Fertilisation and Embryology Authority (HFEA) recently sought the views of the interested public in planning its work for the next year, in an event focusing on a range of ethical, social and legal issues around the future of fertility treatment...
11 December 2009 - by Dr Fiona MacCallum 
The recent report by the Ethics Committee of the American Society for Reproductive Medicine (ASRM) (1), stating that the use of the term 'embryo adoption' is misleading, addresses a question which has been asked since the first successful donation of an embryo. Should treatment with donated embryos be approached as any other assisted reproductive technology (ART), or should it be seen as another form of adoption? Children conceived through embryo donation do resemble adopted chi..
01 December 2008 - by Katy Sinclair 
The annual conference of the Progress Educational Trust - 'Is the embryo sacrosanct? Multi-faith perspectives' - was expertly chaired by Baroness Haleh Afshar, Founder and Chair of the Muslim Women's Network and Visiting Professor of Islamic Law at the University of Strasbourg. The panel comprised Anil Bhanot, General Secretary of the Hindu...
30 April 2007 - by Antony Blackburn-Starza 
The UK's Human Fertilisation and Embryology Authority (HFEA) has launched a public consultation on whether research using human-animal hybrid embryos should be allowed. A public meeting is planned in June, at which interested parties, scientists and members of the public can discuss the issue, and a survey...
25 October 2004 - by BioNews 
A US scientist who suggested that attempts to clone primates might never succeed using current technology has created cloned monkey embryos. Gerald Schatten and his colleagues transferred the embryos into female monkeys, but none of the resulting pregnancies lasted more than a month. The team, based at the University of...


TV Review: Extraordinary Me - Josie, My Cancer Curse

25 July 2011

By Daniel Malynn

Appeared in BioNews 617

Extraordinary Me: Josie - My Cancer Curse

BBC3, Thursday 14 July 2011

Featuring Josie Bellerby

'Extraordinary Me: Josie - My Cancer Curse', BBC3, Thursday 14 July 2011 (featuring Josie Bellerby)

This documentary forms part of a BBC Three series 'Extraordinary Me', which follows the lives of young people with incredible stories to tell. This episode follows Josie and her family through the trials and tribulations of genetic testing.

Josie Bellerby, a confident and articulate 18-year-old drama student, faces the harrowing decision whether to test her genes for an elevated risk of breast cancer. Lucy Bellerby (23) - Josie's oldest sister - has decided she is ready to take the test while middle sister Emma (21) is still unsure (having started - and stopped - the process at around 17).

Josie's mother Julia was a pioneer in undergoing genetic testing. Julia's mother, grandmother and great grandmother all died from breast cancer, Julia was among the first to be tested and have a double mastectomy. Her journey 14 years ago was captured in a documentary called 'Deadly Inheritance'.

Lucy meets with a genetic counsellor who talks her through the implications of testing and need to be emotionally ready for the results. The counsellor also explains that gene affected is called BRCA1, which - when working properly - helps protect from cancer. This gene alteration was described like a spelling mistake, which your body misreads, causing cancer. Women with the alteration have a 60-80 percent chance of developing breast cancer and 20-40 percent chance of developing ovarian cancer.

Josie visits the Yorkshire Regional DNA Lab in Leeds where she is shown the genetic alteration of her mother's BRCA1 gene - five simple deletions. Josie realises that a slight genetic alteration can have huge effects on the body.

Julia - like Josie - has two other sisters and Josie explores the effect of genetic testing on all of them. Josie's aunt and godmother Rosie was found to have the BRCA1 gene alteration. She had four children in quick concession and then a double mastectomy and hysterectomy. Josie's aunt Caroline did not have the gene alteration, which seemed to cause a rift between her and her siblings. She describes it as feeling like she 'fell out of the loop'.

Josie meets and discusses the implications of testing and treatment with numerous affected people. The wide range of views is clear, but what is most poignant was there seemed to be no 'right' answer.

Josie and her family meet Emma Webster (21) who has a fault in her BRCA2 gene: her mum died of breast cancer. She discussed the implication of her BRCA2 fault on her relationships: one man she dated found it difficult to deal with the implications. This had a profound effect on Lucy. Josie's boyfriend Gav was supportive of whatever decision Josie made.

The effect of having the cancer gene and the effect of having a double mastectomy was discussed in length. Josie at the beginning of the documentary said: 'I only just got my boobs I don't want get rid of them'. Josie meets mother and daughter, Wendy and Becky who set up the UK's National Hereditary Breast Cancer Helpline.

Wendy was among the first to have a double mastectomy and there was little in the way of reconstruction, but Becky was extremely happy with her reconstruction after her double mastectomy. Josie talked about her fears of being left with scars or not feeling feminine if she had surgery.

Josie also explored new treatment options with Professor Gareth Evans of the Genesis Prevention Centre near Manchester - Europe's first purpose-built breast cancer prevention centre. Professor Evans talked about using Tamoxifen to reduce the development of cancer by 40 percent if taken during a five year period. He also discussed research on using experimental drugs called PARP Inhibitors to kill cancer cells while leaving healthy cells relatively unaffected.

The most interesting part of the documentary for me was how it showed the impact of genetic testing on an entire family. Lucy being tested had an impact on Emma and Josie. This was especially evident when Lucy was found to have the gene alteration. Josie decided she too would be tested in the next year or so, and Emma restarted the process of being tested.

Julia's reaction to the testing and results was guilt. She was clearly distressed to watch her daughters repeat her experience while knowing genes they inherited from her had given them this 'cancer curse'.

The documentary is moving and powerful - it shows the many emotional and complicated views of patients on testing. The documentary mirrors Julia's 1997 documentary to provide a powerful reminder of the generational effect of inherited cancer. It also allows the viewer to see the changes and development in genetic testing and cancer treatment over the last 14 years.

BBC Three | 25 July 2011
National Hereditary Breast Cancer Helpline | 25 July 2011



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