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

Issue 627 (03 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 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




Ten questions for Lone Frank, author of 'My Beautiful Genome'

03 October 2011

By Dr Vivienne Raper and Ruth Saunders

Appeared in BioNews 627
Do direct-to-consumer (DTC) genetic tests empower individuals or are they a waste of money?

I believe the empowerment lies mostly in getting the consumer interested in genetics and getting them to engage with the developments in the field. Of course, some of the tests are quite actionable – markers related to a disposition for heart-disease, prostate cancer and a number of other illnesses which may be prevented by screening programs and physiological testing.

Is there a direct-to-consumer genetic test on the market that you would be hesitant to take for fear of the results?

I would say no. I have taken tests for BRCA-1 and 2, hereditary breast cancer and for ApoE-lipoprotein connected with elevated Alzheimer's risk. I was nervous – who wouldn't be – but personally, I would rather know of such risks than suddenly find out when a doctor slaps me with a diagnosis.

Do you think we can take the results of DTC genetic tests seriously yet? Or do you think there are some tests that are more clinically valid and useful than others?

Of course, some tests are clearly more 'recreational' than others. That you have blue eyes, wet ear wax or a flush reaction to alcohol is something you already know. But SNP (single nucleotide polymorphism)-information related to elevated risk for certain diseases is actionable as I've mentioned. An area that to my mind is underappreciated is the genetics of drug metabolism. There are several tests for how an individual metabolises a range of drugs and the US Food and Drug Administration (FDA) actually recommend that doctors use such tests before prescribing 70 named medications. But only about a percent of doctors do, it turns out. This is deplorable when we know that the wrong medication or the wrong dose is a significant cause of death.

Do you think members of the public should have access to research findings before they have been clinically validated? Is 'recreational genomics' a sufficient justification for such access?

Interesting question. You might also ask: should the public have access to all sorts of food supplements and alternative 'medicine' when their effects haven't been clinically validated? I don't think the current genetic tests pose a danger to consumers – the worst case scenario is that they get a disease scare and go to the doctor to have it cleared up. Clearly, genetics is a work in progress and we have the choice of using the best of the present knowledge or waiting till everything is figured out and clinically validated – doing the latter will no doubt take a very long time and cost lives along the way.

How would you feel about sharing the results of genetic tests purchased on the DTC market to your family or friends?

Personally, I feel fine – after all I have written a book where I share quite a bit of my genetic information. And as I express in the book, I have great sympathy for projects such as the Personal Genome Project where thousands of volunteers agree to share genetic and detailed health information on the web in order to create a giant research database with free access. As I stress: We are not our genomes. And I think that there are more advantages in sharing the information and thus making better research possible than there are disadvantages in keeping it under wraps. The much publicised fear of how employers and insurance companies might misuse a person's genetic information must be addressed by legislation.

Do you think the DTC market would be safer with regulation or would this stifle scientific innovation?

I am all for some kind of oversight – just like most industries. The basic accuracy of tests should not be in question and additionally, the whole industry would benefit from some kind of oversight that could weed out companies making wild and untrue claims about their tests. It's in no ones interest to get a reputation as a wild west. On the other hand, regulation should not be overly heavy, slow and expensive – that would stifle innovation. What do you think about the science of human leukocyte antigen (HLA)-typing behind genetic matchmaking services? What did you find when you took the test?

As I make clear in the book, the HLA-connection to mate preference is very unclear. Indicated by some research but in no way validated. When I have myself and two men - my actual partner and a colleague of mine – tested, it turns out my colleague who I've never been attracted to is the ideal partner. The reason I include this test is to show where we are heading. It is a sign of the times that there is a viable business here and that consumers seek out this service – it shows that they are already thinking about genetics in relation to something as deeply personal and important to life as romantic partnership.

What were the most worrying claims made by DTC genetic testing companies you found in the course of your research? Which were the most promising?

I found a horrendous example of right out fraud in a company that claims to test your child for 40 genetic variants and on that basis give you a guide to how you should bring up this child. What extracurricular activities to have the kid do and what sort of career choice he or she should make. Completely rediculous. That is the sort of consumer 'genomics' that should be weeded out by an oversight or control authority.

Were you satisfied that the scientific evidence provided on DTC genetic testing company websites justified their claims?

I must say I haven't done a comparative analysis of different companies. However, the scientific papers behind a range of the SNP markers used by deCODEme (the company I used for a SNP profile) and their connection to disease risk have seemed sound to me. After all, deCODE genetics is a highly reputable research institution whose publications on genes and disease risk have come out in the best journals.

Finally, do you think it useful or acceptable that parents discover genetic knowledge about their children at a young age?

 This is one of the questions I find it most difficult to have a firm opinion on. You can imagine a negative impact of parents being over protective because of insight into psychological sensitivity for example. But you can likewise imagine positive examples of parents learning about a serious disease risk and acting upon it preventively. My final analysis would be that the possible advantages probably outweigh the possible drawbacks. After all, our parents and our childhoods don't determine our lives.



02 April 2012 - by Ruth Saunders 
Last week the Parliamentary Office of Science and Technology (POST) released a POST Note - a guide for MPs and other parliamentarians on science and technology issues - on consumer genetic testing...

03 October 2011 - by Emma King 
My Beautiful Genome is the story of DNA told through one woman's quest to find out if the secret to her depression lies in her genes...
06 June 2011 - by Rosemary Paxman 
Direct-to-consumer (DTC) genetic tests provide an inaccurate prediction of disease risk and offer little benefit to consumers, scientists claim...
07 February 2011 - by Dr Marianne Kennedy 
Genetics is creating more confusion than the offside rule in pub conversation. Most of us had limited teaching on the subject at school or we may have left before Watson and Crick ran out of the pub that night with the structure of DNA on a beer mat. We are left to soak in the media murkiness and skewed views of individuals, which could one day influence important decisions on our health....
17 January 2011 - by Rosie Beauchamp 
A recent study suggests American consumers would be prepared to pay on average up to $600 for a predictive genetic test where no direct treatment is available....
18 October 2010 - by Ken Hanscombe 
Twelve members of the Genomes Unzipped project have made their personal genetic data publicly available online. By sharing their genetic data, the project aims to guide discussion about the risks, benefits, and limitations of genetic information, and the issue of genetic privacy...


If it ain't broke, don't fix it: why the HFEA should leave the gamete donation policy alone

30 September 2011

By Dr Kamal Ahuja

Appeared in BioNews 627
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, but will, says the HFEA, be evidence-based and designed to ‘facilitate adequate, effective and safe services for donor recipients and people born as a result of donation'.

What might clinics and their patients expect from the HFEA later this month? When the public consultation was announced on 9 December 2010 the overriding question was whether 'compensation' should cover 'inconvenience' as well as expenses and loss of earnings. The public discussion from then on has often assumed that money would solve the UK's egg and sperm donor crisis, and that donor fees would be increased. Give them more, and they will come.

It has been repeatedly shown, however, that 'compensation', is not the only reason why donors donate. Two studies from The London Women's Clinic (LWC) presented at this year's ESHRE annual meeting in Stockholm show that both sperm and egg donors can be adequately recruited within our existing legal framework and without recourse to financial incentives.

First, a 2010 study (1) showed that a sympathetic and humorous recruitment campaign for sperm donors drew more than 3000 enquiries and resulted in 397 (13 percent) potential donors attending for interview, 124 actually recruited and 2410 vials stored. These would theoretically provide at least 2000 treatment cycles, sufficient for around half the UK's annual donor insemination (DI) demand. We thus concluded that an estimated annual requirement for 500 sperm donors in the UK could be easily met without excessive payments to donors and without any policy overhaul. A far better (and less expensive) approach would be to encourage behavioural change based on altruistic intent and a more committed donor.

Second, a study of 498 egg-sharing cycles performed at the LWC between January 2005 and December 2009 (1), in which IVF patients received subsidised treatment in return for the donation of surplus eggs, found high and comparable birth rates per transfer between egg sharers and egg recipients (45 percent vs 32 percent), with no apparent outcome in favour of one or the other. These same conclusions were drawn in a larger study of two combined egg-sharing programmes involving more than 900 cycles (2).

This data underlines the potential of egg-sharing to help solve the UK's shortage of donor eggs, without any need for payment or the recruitment of non-patient volunteers. 'Egg-sharing' means that only those needing and wanting IVF are actually treated; commercial or voluntary donation turns non-patients into patients and may dilute the quality of their consent.

Payment, whether as compensation for time and trouble or even the larger amounts reported from some countries, makes no recognition of the potentially serious risks, including the risk of developing cancer, which some donors may face in the future (3-5). Even in the HFEA's data bank of approximately 15,000 volunteer donors, this risk has never been quantified. We only see casual references to IVF as being a 'safe' procedure for women being treated for infertility, but no information on the longer-term risks to non-patient donors in egg donation programmes. In the absence of such disclosures, the declaration to develop 'evidence-based' policies is difficult to justify.

European law enshrined the importance of altruism in the context of gamete donation (amongst other things) in the EU Tissues and Cells Directive, which stated explicitly that donation programmes ‘should be founded on the philosophy of voluntary and unpaid donation'; these very principles ‘contribute to high safety standards for tissues and cells and therefore to the protection of human health' – and in my view should form the basis of UK policy in relation to donor compensation.

There are also wider legal implications beyond EU law, mainly in relation to informed consent, for which we have a duty to inform patients of the risks associated with surgical and clinical procedures. While the consent process for paid egg donation differs from that of surgical cases, the principle remains the same and patients must be notified of risks in a manner that adequately takes account of their autonomy, personal interests and priorities. With no long-term data and therefore no guidance to licensed centres, in the current debate it would be presumptuous to assume no future risks.

In announcing its public consultation the HFEA spoke of a 'changing landscape' in gamete donation but made no mention of the huge impact of new communication technologies, particularly social networking. This digital connectivity has dramatically changed the landscape, both in increased recruitment and in creating a sense of community amongst gamete donors. When we carried out our first survey of egg-sharers' motivations in 1996, such communication was not possible. Now, donors share their thoughts online with us in a spirit of community and altruism which suggests that monetary compensation plays little part in their motivation to donate.

Our evidence also shows that couples and single women will still share their eggs even when non-sharing funded treatment is available on the NHS. Published research consistently suggests overwhelmingly positive attitudes (90 percent) towards egg-sharing, with almost no difference in response between those who shared and those who received. Since 1998, more than 30,000 sharers and recipients have benefitted from egg-sharing schemes in over 40 licensed NHS and private egg-sharing centers. It has been repeatedly shown that the attraction of subsidised treatment is not the sole reason for sharing, and that only in very rare cases do respondents express any regret, even when their own treatment cycles did not succeed.

The findings of the consultation on compensation will soon be presented to the HFEA. In my view, it is unsubstantiated and naïve to assume that money will resolve the UK's donor crisis. Our data shows that a reliable supply of donor sperm can be generated through targeted and caring campaigns. With consistent staff training and comprehensive information given to patients, egg-sharing programmes can produce sufficient donor oocytes. Indeed, we already exceed the estimated need of 1200 donor egg cycles suggested by the HFEA.

A campaign to solicit donor eggs through payment has a high chance of failure and it may be putting some donors at risk. Instead, why fix what already works? The benevolence of non-patient women who wish to donate eggs to help others should be saluted and encouraged but it should not be driven by a policy to commercially recruit donors. Egg-sharing should be promoted as an effective policy and as an example of mutual self-help in reproductive medicine. Such a campaign, unthreatened by repeated public consultations, would encourage more egg-sharers to come forward and a trusting and self-sustaining group of egg-sharers could grow and flourish.

There are many good reasons to preserve the current HFEA policy in relation to compensation and reimbursement; there are absolutely no good reasons to alter it.

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 or on +44 (0)20 7291 8221.


05 September 2016 - by Dr Kamal Ahuja, Dr Meheranghiz Minbattiwalla, Ms Toyin Jegede 
The notion persists that sperm donation in Britain limps ahead in a state of perpetual crisis: difficulties at the much vaunted national sperm bank, imports of donor sperm flooding in from Denmark, and UK donors terrified of disclosing their identity. Yet nothing could be further from the truth...
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...
16 April 2012 - by Dr John Appleby and Dr Lucy Blake 
The Nuffield Council on Bioethics has launched an inquiry on the ethics of disclosure in families with children conceived using donated reproductive tissue (i.e. eggs, sperm, or embryos). In spring 2013 the Council will publish a report on its findings, making policy recommendations where appropriate. This call for evidence is part of a long history of debate on the topic of disclosure in the UK and runs parallel to international debates in the USA, Canada, Australia and Europe...
16 January 2012 - by Jenny Dunlop 
Kate Brian's book, a combination of personal stories and expert advice, fills a gap for many people who have conceived through fertility treatment, but realise that the physical and emotional impact continues well after the treatment has ended...
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...

18 July 2011 - by Sandy Starr 
The UK's fertility regulator, the Human Fertilisation and Embryology Authority (HFEA), has made its first set of decisions following the outcome of its recent consultation on sperm and egg donation, known as the Donation Review...
31 January 2011 - by Professor Eric Blyth, Dr Marilyn Crawshaw, Dr Lucy Frith, Dr Caroline Jones and Dr Nina Martin 
While the HFEA's motivation in undertaking this review is understandable, we consider that there are significant problems with the public consultation. First, there are a number of technical problems with the presentation: the consultation appears to be unavailable to anyone without access to the Internet; the background information provided by the HFEA, ostensibly to enlighten respondents...
25 October 2010 - by Sarah Pritchard 
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)...
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....
06 April 2010 - by Dr John Parsons 
The time has come to look again at offering proportionate payments to women without a fertility problem who donate eggs. Licensed clinics should stop using eggs from egg sharing arrangements and be banned from supporting links with overseas clinics that use anonymous donors...


Australian IVF pioneer, Carl Wood, dies aged 82

03 October 2011

By Julianna Photopoulos

Appeared in BioNews 627

The Australian gynaecologist and pioneer of IVF, Professor Carl Wood, has died at the age of 82 after his long battle with Alzheimer's disease.

Professor Wood gained considerable international and national attention for his wide-ranging contributions in the field of women's health over a period of almost 50 years, although not all of it was positive given the controversial nature of many of his endeavours.

His former colleague, Professor Gab Kovacs said: 'He was at the forefront of everything, always 10 years ahead of his time'.

The gynaecologist led the team at Monash University in Melbourne that established IVF as a method for the treatment of human infertility during the 1970s. His team, which included stem cell research pioneer Dr Alan Trounson, achieved the world's first clinical IVF pregnancy in 1973, although it did not progress beyond a few days. In 1980, Australia's first 'test tube baby', Candice Reed, was born and three years later, the world's first IVF baby from a frozen embryo arrived.

IVF Australia medical director Professor Peter Illingworth described Professor Wood as a 'visionary' whose team's research had a monumental influence.

Their most important discovery was how to use hormones and drugs to stimulate the ovaries to control egg maturation and collection, a method that transformed IVF into a successful clinical treatment used around the world. The technique has assisted the births of more than 45,000 babies.

While thousands of families celebrated the technique, critics accused Professor Wood of playing God. Despite the criticisms, he was awarded the Commander of the British Empire in 1982 and was made a companion in the order of Australia in 1995. He also received the Axel Munthe international award for reproductive science in 1988. As well as his IVF achievements, Professor Wood helped develop laparoscopic surgical techniques for a range of gynaecological conditions. In 1998 he established the Endometriosis Care Clinic of Australia.

'Carl pioneered the monitoring of babies during labour, which saved many, many lives. He was also one of the first to suggest there was more to women than just their organs and pushed for the introduction of sexual counselling and abortion reform', Professor Kovacs added.

Professor Wood graduated from Melbourne University with degrees in medicine and surgery in 1952 and held positions in the US and London before returning to Melbourne to become Foundation Professor of the Monash University Department of Obstetrics and Gynaecology in 1964.

Throughout his career, he lectured around the world on subjects such as infertility, fetal care, prenatal life and gynaecological endoscopy. He wrote 23 books and several hundred papers for medical and scientific journals before retiring in 2002. Two years later he was diagnosed with Alzheimer's disease.

Wikipedia | 
Sydney Morning Herald | 27 September 2011
ABC | 26 September 2011
NZ Top News | 27 September 2011
Sydney Morning Herald | 28 September 2011
AFP | 27 September 2011


25 November 2013 - by Dr James Heather 
Fred Sanger, renowned biochemist, has died aged 95. Having pioneered seminal techniques for the understanding of both proteins and DNA, Dr Sanger is widely hailed as one of the most influential scientists of recent years...
24 October 2011 - by Dr Rosie Gilchrist 
Researchers at Oxford University have developed a test that may help to improve IVF success rates by checking the health of embryos. The team, led by Dr Dagan Wells, has apparently developed a test which checks embryos during IVF for abnormal numbers of chromosomes...

05 September 2011 - by Rosie Beauchamp 
An Australian fertility clinic has screened what is believed to be the first TV advertisement featuring a real birth...
10 May 2010 - by Dr Tamara Hirsch 
Rising IVF costs may drive up Australian multiple birth rates and put women's health at risk, according to some clinical specialists....
08 October 2007 - by Dr Sammy Lee 
Last week, BioNews reported on an ongoing Australian case in which an IVF mother is suing her consultant specialist for negligence concerning the birth of her healthy twins, on the basis of her express wish to have had only a singleton pregnancy and one child. The case has taken on...
01 October 2007 - by MacKenna Roberts 
Last week, following public outrage over the legal concept that a healthy baby might amount to 'damage', the Australian Medical Association (AMA) president, Dr Andrew Foote, condemned the recent unprecedented case before the Australian Capital Territory (ACT) Supreme Court. In it, two women are suing their doctor...


'Man flu' - do women just have stronger immune systems?

03 October 2011

By George Frodsham

Appeared in BioNews 627

Gene differences between men and women could mean that women are better at resisting certain infections and diseases than men, a new study suggests. The second X chromosome in women gives them an immunological advantage over men, possibly giving credence to man's perceived susceptibility to 'man-flu'. The authors of the study said the results could have important implications in the development of drugs and treatments for cancer.

'Statistics show that in humans, as with other mammals, females live longer than males and are more able to fight off shock episodes from sepsis, infection or trauma', said Dr Libert. 'We believe this is due to the X chromosome which in humans contains 10 percent of all micro RNAs [small fragments of RNA] detected so far in the genome. The roles of many remain unknown, but several X chromosome-located strands of microRNA have important functions in immunity and cancer'.

Women have two X chromosomes whereas men have one X and one Y chromosome. The X chromosome, larger and containing more genes than its Y counterpart, houses immunity genes which help in the fight against infections and cancer. However, the function of these genes can be blocked by a process known as gene silencing. Silencing the genes in one of a female's two X chromosomes compensates for the unequal gene expression between the sexes. But the study, led by Dr Claude Libert of Ghent University in Belgium, showed that some female genes can escape the silencing process, leaving women with up to twice as many disease fighting gene products than men. This may enable women to fight off certain illnesses more effectively than men.

'How this unique form of genetic inheritance influences X chromosome linked microRNAs will be a challenge for researchers for years to come, not only from an evolutionary point of view, but also for scientists investigating the causes and cures of disease', Dr Libert said.

However, it is not all good news for women. The study also notes that the advantages in having two X chromosomes are slightly offset by the fact that it increases 'their susceptibility to develop autoimmune disorders later in life', the study authors wrote.

The Independent | 28 September 2011
Daily Mail | 28 September 2011
Press Association | 28 September 2011
Telegraph | 28 September 2011
Metro | 28 September 2011
BioEssays | 28 September 2011


08 May 2017 - by Helen Robertson 
At least 6500 genes are expressed at different levels in male or female body tissues, finds a new study...
18 May 2015 - by Dr Nicola Davis 
Researchers have discovered a pattern in 11 genes that could make it quick and easy to diagnose sepsis, a serious life-threatening condition...
30 March 2015 - by Dr James Heather 
A report has found that rare mutations in a single gene made one girl genetically susceptible to severe influenza infection...
02 April 2012 - by Dr Nadeem Shaikh 
Differences in the severity of people's flu symptoms may be due to a genetic variant, according to scientists...
27 February 2012 - by Ruth Saunders 
Men may not be on the brink of extinction after all, according to a study on the evolution of the human Y chromosome. Previous research has suggested that the Y sex chromosome, carried only by men, is decaying genetically at such a rate that men would become extinct in five million years' time...

05 September 2011 - by Dr Rosie Gilchrist 
Scientists may have identified the first genetic link to being underweight. A paper published in the journal Nature this week found that people with extra copies of a region of chromosome 16, locus 16p11.2, have a significantly increased risk of being underweight...
30 August 2011 - by Rosemary Paxman 
Over a dozen children with 'boy in bubble' syndrome are alive and well, with functioning immune systems, nine years after undergoing gene therapy to correct their disorder, researchers report....
30 August 2011 - by Dr Zara Mahmoud 
Scientists have suggested there may be a genetic basis behind the way our body reacts to the flu virus, making some of us more vulnerable than others. A study published in PLoS Genetics has tracked the body's response to the H3N2/Wisconsin strain of the flu virus at the genetic level. The researchers injected the virus into 17 volunteers and analysed expression patterns from the time of injection to the onset of full-blown clinical symptoms...


NICE recommends more scans for multiple pregnancies

03 October 2011

By Dr Rebecca Hill

Appeared in BioNews 627

The National Institute for Health and Clinical Excellence (NICE) has issued new guidelines saying that women pregnant with twins or triplets should be monitored more closely, receiving specialist care from a team of healthcare professionals.

Multiple births have increased greatly in recent years, from 10 per 1,000 in 1980 to 16 per 1,000 in 2009. They now account for three percent of the total live births in England and Wales each year. This has been attributed to an increase in the successful use of assisted reproduction methods, such as IVF.

'This is the first time NICE has published recommendations for healthcare professionals on managing multiple pregnancy, based on the best available evidence', said Dr Fergus Macbeth, Director of the Centre for Clinical Practice at NICE. 'Implementing these clear recommendations will help women to feel supported and well looked after at a time when they can be feeling very anxious'.

According to NICE, women should receive no fewer than six scans, and be offered emotional support and information on topics including preterm labour and breastfeeding, by a range of healthcare professionals who are used to dealing with multiple pregnancies.

Dr Virginia Beckett, from the Royal College of Obstetricians and Gynaecologists, told the BBC: 'A multi-disciplinary approach including input from midwives, obstetricians and ultrasonographers will help ensure any complications are picked up early'.

Dr Macbeth added: 'Although many women will have a normal pregnancy and birth, it is well known that there are higher risks involved for these types of pregnancy and so it is important to get it right'.

These risks include complications with the pregnancy – from vaginal bleeding to miscarriage or preterm delivery – and dangers to the babies themselves, with low birth weights being more common in children from multiple pregnancies. According to NICE, the rate of stillbirth in women with multiple pregnancies is 2.5 times higher than in those expecting one child.

One of the motivations for implementing such recommendations is the disparities in such services throughout England and Wales. 'Although much of the care at present is very good, there are many inconsistencies and often poor coordination between healthcare professionals if mothers are referred to other hospitals', explained Jane Denton, Director of the Multiple Births Foundation, referring to the guidance as a 'significant milestone in the management of multiple pregnancies'.

The recommendations, which only considers twin and triplet pregnancies, recommend up to 11 scans, and a scan between 11 and 14 weeks to establish if the siblings share a placenta, which can increase the risk of complications. Furthermore, despite the fact that currently many women at risk of early labour are offered bed rest or drugs to prevent labour, NICE does not recommend these as routine, as there is no evidence they are effective at preventing early labour.

Mark Kilby, Guideline Development Group Chair and Professor of Fetal Medicine, University of Birmingham and Birmingham Women's Hospital, said: 'If followed correctly, these new guidelines will result in fewer preterm births and neonatal complications, by providing mums-to-be with the highest quality of care'.

The Telegraph | 28 September 2011
More scans call for multiple births
Press Association | 28 September 2011
BBC | 28 September 2011
NICE press release | 28 September 2011
Guardian | 28 September 2011
NICE guidelines | 28 September 2011
NICE news | 28 September 2011


11 February 2013 - by Matthew Thomas 
Figures released by the UK's Human Fertilisation and Embryology Authority reveal the number of IVF cycles performed each year has continued to rise while the overall multiple pregnancy and birth rate has declined....
26 March 2012 - by Dr Daniel Grimes 
A gene variant passed down from the mother has been linked to heavier newborns, according to scientists...
13 February 2012 - by Nishat Hyder 
The rate of multiple births resulting from IVF treatment is to be no more than ten percent, announced the Human Fertility and Embryology Authority (HFEA), in the final stage of its policy to reduce IVF multiple birth rates in the UK....

04 July 2011 - by Rose Palmer 
The shortage of egg and sperm donors, and the cost of IVF in the UK, need to be addressed to reduce the number of people travelling abroad for fertility treatment, according to a report published this week....
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...
23 May 2011 - by Dr Alan Thornhill 
When asked why having twins isn't a good idea, I struggle. I start trotting out the party line, the obstetric risks and risks to the babies themselves, and then begin to shuffle my feet. It's complicated, I say, hoping they will move onto another topic...
14 February 2011 - by Ayesha Ahmad 
Public health minister Anne Milton has said NHS Primary Care Trust's should follow existing guidelines and offer three cycles of IVF to eligible couples....
31 January 2011 - by Chris Chatterton 
An audit of 122 NHS sites across the UK by the Royal College of Physicians (RCP) has found that screening for familial hypercholesterolaemia (FH) is very patchy. The report suggests that around 120,000 people have the condition in the UK, but that 85 percent are unaware they have it, which equates to about 100,000 people....


Genetic variants linked to asthmatics' response to inhalers

03 October 2011

By Luciana Strait

Appeared in BioNews 627

Inheriting two copies of a genetic variant has been associated with reduced response to steroid inhalers in people with asthma. The finding could explain why around 40 percent of people with asthma do not benefit from inhaled steroids, the most commonly prescribed medication for the condition.

'The study illustrates the importance of research examining the relationship between genetic makeup and response to therapy for asthma, and underscores the need for personalised treatment for those who have it', said Susan Shurin, acting director of the US National Heart, Lung, and Blood Institute, one of the funding bodies of the research.

Researchers at Boston's Brigham and Women's Hospital and Harvard Medical School in the USA carried out a genome-wide association study using data from 1,000 people (including children and their parents), and identified a gene called glucocorticoid-induced transcript 1 gene (GLCCI1). The team, led by Dr Kelan Tantisira, found that treatment with an inhaler produced only one-third of the level of lung improvement in asthma patients with two copies of a variant of the gene compared to those with regular copies of the gene.

The results, published in the New England Journal of Medicine, are 'appreciable but not overwhelming' according the journal's editor Dr Jeffery Drazen, who also noted that the research would be a step towards being able to identify which patients are most likely to respond to inhaled steroids.

'The next step must be to mount clinical trials in which patients are stratified according to their biological signature to determine whether knowledge of this information leads to better clinical outcomes', said Dr Drazen.

Reuters | 26 September 2011
LA Times | 26 September 2011
New England Journal of Medicine | 29 September 2011
NIH Press Releases | 23 September 2011


12 June 2017 - by Dr Rachel Huddart 
Life-threatening allergies and asthma could one day be treated by a single injection, say researchers who have successfully treated mice using gene therapy...
28 June 2013 - by Dr James Heather 
Asthmatics carrying several genetic variations associated with asthma are more likely to have a severe, longer lasting disease, research shows...
14 January 2013 - by Dr Sarah Spain 
Testing children with asthma for a variant in the beta-2 receptor gene may help clinicians determine the most suitable medication, especially in children who respond poorly to standard treatment...

27 September 2010 - by Ken Hanscombe 
A new study queries the role of allergy in the development of asthma, and suggests that a different disease process is involved in childhood and adult-onset asthma. Asthma is a complex condition with genetic and environmental factors, although experts believe it has a strong heritable component....
12 October 2009 - by Adam Fletcher 
One million children in the UK suffer from asthma, yet it last week transpired that one in ten of these might not be responding as expected to existing treatment. A collaboration between Professor Somnath Mukhopadhyay, of the University of Brighton, and Professor Colin Palmer, of the University of Dundee, has found that a common gene variant in children...
14 April 2009 - by Dr Charlotte Maden 
Scientists in Scotland, Ireland and Japan have found a genetic defect in mice that mimics inflammation seen in allergic diseases such as eczema. The defect in the filaggrin gene could be used in research to further understand these diseases. Eczema is inflammation of the skin, which causes...
14 April 2008 - by Stuart Scott 
US researchers have identified a gene that seems to play a significant role in the development of asthma. Reporting in the New England Journal of Medicine, Carole Ober and her colleagues at the University of Chicago found that people can either be protected from asthma or find...
09 July 2007 - by Stuart Scott 
A new gene variant has been found that leads to an increased risk of children developing asthma. A team at the National Heart and Lung Institute, Imperial College, London performed a 'genome-wide association' study, analysing 317,000 genetic variations (single nucleotide polymorphisms, SNPs) in 994 patients with childhood...


Genome study suggests gene linked with cancer may be beneficial

03 October 2011

By Dr Kimberley Bryon-Dodd

Appeared in BioNews 627

A study analysing three different, but closely related, African populations has identified that a cancer gene is present at a surprisingly high frequency; akin to those usually associated with evolutionary advantages.

This research, published in American Journal of Human Genetics, suggests that the prostate stem cell antigen (PSCA) gene could have a beneficial role, as well as being linked to cancer.

Dr Alkes Price, a senior author on the study said: 'We presume this mutation also confers some benefit to those who carry it'. He said that finding signals for natural selection will allow scientists to uncover the genetics of disease resistance, and hopes it will help to identify new treatments and improve existing ones.

This study represents the first analysis of differences in the genome-wide data available for over 12,000 individuals of African-American, Nigerian or Gambian descent. In general, the scientists observed that the genomes from across all the three African populations were broadly similar and confirmed previously identified highly selected for genetic regions amongst this population.

'Looking at closely related populations is significant because there are not many genetic differences between them. So when there is a difference, you know that something interesting is going on', explained Gaurav Bhatia, a graduate student from the Massachusetts Institute of Technology, who carried out the study.

Indeed, they discovered four regions of the genome that, according to Bhatia, 'really stood out'. Three of the genes in these regions have already been demonstrated to have a link to malaria resistance. The other identified genetic region has the gene PSCA present which is known to be linked to bladder and prostate cancer. However, according to New Scientist, the researchers don't know what benefit it confers and further research is required to determine the cause of the selection pressure.


26 January 2015 - by Dr Anna Cauldwell 
The malaria parasite Plasmodium falciparum's resistance to artemisinin, one of the most effective antimalarial drugs, has been partially unravelled in a new Nature Genetics' study...
05 December 2011 - by Dr Zara Mahmoud 
Two new gene variants, which each increase the risk of bone marrow cancer by 30 percent, have been identified by scientists at the Institute for Cancer Research...

28 June 2010 - by Ben Jones 
The Wellcome Trust has joined forces with the US National Institute of Health (NIH) to coordinate a major new genetics study in Africa....
26 April 2010 - by Dr Tom Dickins and Sima Sandhu 
The models emerging from behavioural biology are increasingly sophisticated. They do not undermine the quest for candidate genes, but rather augment our understanding of why those genes might persist in populations and be differentially expressed across circumstances....
14 December 2009 - by Ailsa Stevens 
Adults with the inherited blood disorder 'sickle cell anaemia' may be treated using blood stem cells transplanted from a healthy tissue-matched donor, scientists based at the US National Institute of Diabetes and Digestive and Kidney Diseases in Bethesda, Maryland, have shown. The treatment successfully boosted levels of normal red blood cells in nine out of 10 of the adults who have so far been given the experimental therapy, according to a study published in the New England J...
30 October 2007 - by Ailsa Stevens 
The International HapMap Consortium, a public-private effort to identify and catalogue genetic similarities and differences in humans, this month unveiled its second-generation version of the human genome; a map three times more detailed than the original version released in 2005. The new map will help scientists to...


Dead end for the 'longevity gene'?

03 October 2011

By Dr Louisa Petchey

Appeared in BioNews 627

A gene associated with increased lifespan in a number of organisms is now thought to have no effect on longevity after a second look revealed significant flaws in the original studies on which the assumptions were based. The findings will disappoint the manufacturers of many anti-ageing creams that claim to work by activating the gene, but are unlikely to put a stop to research. The gene is still known to play an important role in protecting against the damage of high-fat diets and other age-related diseases.

The existence of a 'longevity gene' was supported by evidence from a number of different studies, but 'none seem to stand up to close scrutiny', according to Dr David Gems from the Institute of Healthy Ageing at University College London, who headed up the UK-based investigation. 'Far from being a key to longevity', the gene has 'nothing to do with extending life', he said.

The gene, called SIRT1 in humans, is also found in yeast, worms and flies and produces proteins called sirtuins. Previous research showed that higher levels of sirtuins in these model organisms increased lifespan compared to their normal or 'wild type' counterparts, in some cases by 50 percent. But when Dr Gems and colleagues looked at the strain of worm used to study the effects of higher sirtuin expression, they found it had an extra genetic mutation that was causing the increase in lifespan.

It was a similar story with the fly studies. When researchers checked that the level of sirtuin was the only difference between the wild type and test strains, they were unable to detect any difference in the length of time they lived for. The study, also refuted the claim that resveratrol, found in anti-ageing creams and red wine, is able to activate sirtuins, or that they are responsible for the increase in fly lifespan induced by dietary restriction, which was found to work independently of sirtuins.

But disproving these previous findings is no bad thing according to Dr Gems: 'Revising old ideas can be as important as presenting new ones to assure scientific progress. This work should help to redirect scientific efforts toward those processes that really do control ageing'.

Professor Johan Auwerx from the Ecole Polytechnique Federale de Lausanne in Switzerland agrees that the findings put 'a final nail in the coffin' for the role of sirtuins in longevity, but believes that they still have a 'long life as a subject for further exciting research'. Writing a commentary on the study, published in the same issue of Nature, Professor Auwerx and colleagues point to the 'overwhelming body of evidence' that sirtuin activation promotes metabolic fitness that may help us overcome the effects of unhealthy diets and lifestyles. 'Don't write sirtuins off', they conclude.


20 November 2017 - by Charlott Repschlager 
A rare genetic mutation leading to longer and healthier lives has been discovered in the US Amish community...
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....
15 September 2014 - by Ari Haque 
Activating a single gene can slow the ageing process and considerably extend life, scientists have discovered...
28 April 2014 - by James Brooks 
Blood tests of a woman who lived to 115 have revealed that when she died the majority of the white blood cells in her body originated from just two stem cells...
27 August 2013 - by Matthew Thomas 
Genetic mutations passed on from mothers may speed up the ageing process and shorten life expectancy, according to a study on mice...

25 July 2011 - by Dr Lux Fatimathas 
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....
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...
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...
24 May 2010 - by Dr Tamara Hirsch 
Scientists have identified several genetic variants linked to living a long life. The right 'suite' of so-called 'Methuselah' genes could offset the ill effects of smoking, drinking and poor diet, the new research shows....
22 November 2009 - by Sarah Pritchard 
Scientists have discovered among a group of very elderly Jews that their longevity could be due to a mutant enzyme which stops cells ageing. Researchers at the Albert Einstein School of Medicine in the USA studied 86 Ashkenazi Jews with an average age of 97, as well as 175 of their children, and 93 'control' patients whose parents had had an average lifespan....


You are what you eat - study suggests veg can alter your genes

03 October 2011

By Mehmet Fidanboylu

Appeared in BioNews 627

Small fragments of genetic material from vegetables we eat could be altering our genes, according to a study carried out by scientists in China.

The researchers, from Nanjing University, found plant microRNAs (small fragments of RNA) in blood samples taken from humans, and a number of other plant-eating animals. The two most common types of microRNA detected in the blood samples (MIR156a and MIR168a) are found in rice and cruciferous vegetables, such as broccoli; suggesting the microRNAs had come from foodstuffs.

Professor Chen-Yu Zhang, senior author of the study, said in an email to MSNBC: 'Plant microRNAs may represent essential functional molecules in food and herbal medicine, and also provide a novel therapeutic strategy for the treatment of diseases'.

MicroRNAs are known to be a useful way of fine-tuning gene expression in the body, or indeed in plants. However, until now plant microRNAs had been thought to only be effective at regulating plant genes, and similarly human microRNAs effective only on human genes.

The idea that microRNAs in food could survive being digested is also novel. However, this was confirmed by the researchers when they detected plant microRNAs in the blood of mice that had been fed rice.

Professor Zhang, whose research was published in Cell Research, theorised that if the plant microRNAs were able to make it through to the bloodstream, they might also be controlling the expression of genes in the body.

This theory was supported when the researchers found that injecting mice with MIR168a caused an increase in low-density lipoprotein (LDL) – often referred to as 'bad' cholesterol. This was due to the MIR168a silencing a gene that would usually help break down LDL.

Professor Zhang believes that microRNAs from plants we eat could be affecting us, stating that the rise in LDL caused by MIR168a could 'possibly increase the risk of metabolic syndrome'.

Other researchers are more sceptical. Dr Petr Svoboda, of the Institute of Molecular Genetics in the Czech Republic told MSNBC that levels of plant microRNAs in humans are typically lower than those used in this study, stating that the low levels are unlikely to have any physiological effect in the human body.

In any case, some commentators have predicted that this research may lead to scientists designing therapeutic plants and diets in the future. Professor Ed Stellwag, an evolutionary biologist at East Carolina University told New Scientist: 'You can bet this will create an absolute flurry of research activity as scientists race to discover how genetic information in our food changes our health'.

MSNBC | 20 September 2011
New Scientist | 29 September 2011
Cell research | 20 September 2011
The Scientist | 20 September 2011
Eurekalert | 19 September 2011


25 June 2012 - by Dr Michaela Livingstone 
Epigenetics. What on earth is that? You're probably aware of the genetics vs environment debate can still divide people to this day, but epigenetics is something that we haven't quite got around to talking much about in the public sphere....
17 October 2011 - by Dr Rebecca Robey 
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...

25 October 2010 - by Ken Hanscombe 
Two commonly occurring genetic variants in the human CYP4F2 gene have been found to affect metabolism of vitamin E. Vitamin E is a generic term for a group of fat-soluble compounds and consists of eight chemical forms...
15 June 2009 - by Dr Sarah Spain 
A diet rich in steak and other red meat might hinder a man's chances of conceiving a child, say Spanish researchers. According to their study published in the journal 'Fertility and Sterility', a healthy antioxidant-rich diet might be the key to sperm quality and motility. Men who eat a lot of fruit and vegetables, in particular peppers, spinach and citrus fruits, have higher quality and faster swimming sperm....
02 February 2009 - by Dian Shepperson Mills 
Eating is something we do every day. It sustains us and keeps us healthy, and poor food choice can make us unhealthy. The maturing ova, sperm, endometrium and fetus depend upon nutrients for development. If the diet is laced with environmental endocrine-disrupting chemicals, trans-fats, refined sugars, or excess additives, or...
30 October 2006 - by Dr Laura Bell 
A Harvard Medical school study involving 18,000 women has shown that taking multivitamins, particularly folic acid, can improve chances of pregnancy in couples having difficulty conceiving. Around 150,000 couples in the UK suffer from infertility problems due to the woman's inability to ovulate, which is about 1...


Mapping the epigenome: Europe leads the way

03 October 2011

By Suzanne Elvidge

Appeared in BioNews 627

The European Commission (EC) is investing €30 million in BLUEPRINT, a project to map the human epigenome - the sum total of the non-coding, but inherited, modifications to DNA.

The work will add 100 or more high-resolution reference epigenome maps for the International Human Epigenome Consortium, putting towards its 2020 target of 1000 reference epigenomes.

The epigenome includes DNA methylation, nucleosome occupancy, histone deacetylation and other histone modifications, and corresponding coding and non-coding RNA. Most of these changes occur in early development, but cells collect further changes throughout their life, some of which can lead to cancer. This means that the epigenome varies from individual to individual, and even from cell to cell, and studying the epigenome could help clarify the links between genes, environment and health or disease.

Initially, the 41 universities, research institutes and industry entrepreneurs, that make up BLUEPRINT will look at the epigenome of 60 different cell types from healthy blood, and 60 blood cancer cell types. Samples will come from the Cambridge BioResource, a panel of volunteers, as well as the International Cancer Genome Consortium and the British Diabetic Twin Study.

The teams will sequence the genome, as well as analyse the pattern of distribution of nine epigenetic markers, with an aim to understand how genes are activated or suppressed. They will also produce low-resolution epigenomic maps from blood samples from 100 healthy people, with support from the Wellcome Trust Sanger Institute.

The focus on blood is partly for ease of access, as blood samples are easily available from biobanks, but also because blood includes cells of different ages and at different stages of development, so that mapping the epigenome may shed some light on how cells develop, and how the epigenome changes in response to the environment.

Launched on 1 October 2011 with a two day meeting at the Royal Netherlands Academy of Arts and Sciences in Amsterdam, BLUEPRINT will be the largest ever project from the EC's health division, with an overall budget of around €40 million. It will run for four and half years and will be led by Professor Henk Stunnenberg of the Nijmegen Centre for Molecular Life Sciences in the Netherlands.

PHG Foundation | 29 October 2011
The Scientist | 29 October 2011
Nature News | 28 September 2011


23 February 2015 - by Meghna Kataria 
Scientists have unveiled a map of the human epigenome - the suite of molecular controllers which turn genes on and off in every human cell...
08 May 2012 - by Sarah Norcross and Sandy Starr 
The conference 'Genomics in Society: Facts, Fictions and Cultures' marked the 10th anniversary of the Economic and Social Research Council's Genomics Network, and also the passing of nearly ten years since the completion of the Human Genome Project...
10 October 2011 - by Oliver Timmis 
The Faroe Islands is set to become the first region to sequence the genome of its entire population....

20 December 2010 - by Dr Carolina Gemma and Dr Vardhman Rakyan 
In recent years, significant progress has been made in identifying some of the genetic factors that underlie common complex diseases such as diabetes, obesity, hypertension and cancer. This has been possible due to the genome-wide association study (GWAS) approach that involves comparing genetic variants in large numbers of individuals that have the disease versus those that do not...
15 February 2010 - by Charlie McDermott 
The International Human Epigenome Consortium (IHEC), launched in Paris last week, plans to map 1,000 reference epigenomes within a decade...
07 December 2009 - by Dr Aarathi Prasad 
Session 3 of the Progress Educational Trust's annual conference (PET), held on Wednesday 18 November 2009 at Clifford Chance, was chaired by Professor Dian Donnai,Professor of Medical Genetics at the University of Manchester, and started with a talk by Karen Temple, Professor of Medical Genetics and Honorary Consultant in Clinical Genetics at the University of Southampton and Wessex Clinical Genetics Service. Professor Temple gave an intriguing talk on the influence of parent...
19 October 2009 - by Dr Will Fletcher 
The first detailed map of the human epigenome has been published. The epigenome, sometimes described as the 'instruction manual' to the human genome, is a regulatory network of chemical switches that governs the activation of human genes, and is therefore ultimately responsible for how a person grows and develops. Scientists believe that this exciting work could lead to new treatments for a range of illnesses including mental conditions such as schizophrenia
20 July 2009 - by Sandy Starr 
From our perspective at the Progress Educational Trust (PET), one of the most welcome aspects of the House of Lords Science and Technology Committee's new report 'Genomic Medicine' is its consideration of public engagement issues. This section of the report appears to anticipate and complement PET's plans for its 2009 annual conference, entitled 'Does Genetics Matter? Help, Hype and the New Horizon of Epigenetics', which will take place in East London on Wednesday 18 November....


Genetic screens detect 'hypermutated' prostate cancers

03 October 2011

By Sarah Pritchard

Appeared in BioNews 627

Sequencing tissue samples from patients with deadly forms of prostate cancer has revealed previously undefined, drug-resistant tumour types that are ten times more mutated than other varieties, report researchers. The findings could help scientists develop screening methods and treatments specific to these 'hypermutated' forms of the disease.

'We don't know the cause of these hypermutated tumours, but the frequency of the mutations suggests these tumours might evolve very rapidly to develop resistance to therapies', said Dr Peter Nelson from the Fred Hutchinson Cancer Research Center in Seattle, USA.

For the study, published in the journal Proceedings of the National Academy of Sciences, the researchers sequenced the exomes (the parts of the DNA that code for proteins) of 23 prostate cancers grown in immunodeficient mice, of which 16 had originated as lethal metastatic cancers, and three as high-grade forms of the disease in humans.

The team found unexpected results; three of the prostate cancer genomes displayed much higher mutation frequencies than tumours derived from other tumour samples – in the region of 2,000 to 4,000 novel coding variants per exome. 'That was very surprising and unusual', said Dr Nelson.

After comparison of treatment-resistant and non-resistant versions of these tumours, the researchers saw that the mutations were in the Wnt pathway. This is a network of proteins known for their role in cancer development and progress, which could help future research into why some prostate cancers are resistant to drugs.

Co-author Dr Jay Shendure said: 'The mutations underlying the progression of prostate cancer to an advanced state have been understudied to date. Although further work is necessary, our hope is that identifying the genes in which these mutations occur will facilitate biological insights and the development of new therapeutic strategies'.

PNAS | 26 September 2011
Genetic enginnering and biotechnology news | 27 September 2011
Daily Mail | 26 September 2011
Research finds hypermutated cancers
Press Association | 27 September 2011
Science Daily | 27 September 2011


13 May 2013 - by Daryl Ramai 
A genetic test released in the USA claims to be able to score the aggressiveness of prostate cancer before medical intervention, helping men with the condition decide if and when to start receiving treatment....
16 January 2012 - by Dr Linda Wijlaars 
A rare gene variant that could increase the risk of prostate cancer has been identified by researchers in the USA. Although the variant accounts for only a small fraction of all prostate cancers, the study found it was more common in men with an inherited form of the cancer and in those who are diagnosed before the age of 55...
10 October 2011 - by Dr Rebecca Robey 
The winners of the Nobel Prize in Physiology or Medicine 2011 were announced on 3 October with an unusual twist – for the first time the accolade has been bestowed on someone posthumously. This is normally against the Nobel Assembly's rules, but Professor Ralph Steinman's untimely death on 30 September occurred after messages had been sent to him informing him of his success...

22 August 2011 - by Sarah Pritchard 
US researchers have made a discovery that might help doctors distinguish between benign and more aggressive forms of prostate cancer. The team reports that a difference in the genetic make-up of prostate tumours could indicate which are likely to metastasize and spread through the body, and which will be slow-growing and non-fatal...
01 August 2011 - by Dr Charlotte Maden 
Two new initiatives have been launched by Cancer Research UK, aiming to increase the understanding of prostate and oesophageal cancers which will speed up the development of personalised treatments for patients....
16 May 2011 - by Dr Kimberley Bryon-Dodd 
Screening for breast and prostate cancer based on genetic risk factors as well as age could reduce the number of people screened without a significant reduction in the number of cancers detected, a new study suggests....
14 February 2011 - by Dr Lucy Freem 
US researchers have sequenced the genomes of several prostate tumours providing new information that may help doctors to identify aggressive forms of the cancer and prioritise treatment...
28 September 2009 - by Dr Charlotte Maden 
Four genetic studies into prostate cancer have uncovered new genetic variations associated with the disease. The information may be used to provide a more reliable indication of the risk a man has of developing prostate cancer....


Book Review: My Beautiful Genome - Exposing Our Genetic Future One Quirk at a Time

03 October 2011

By Emma King

Postgraduate student at the ESRC Innogen Centre, University of Edinburgh

Appeared in BioNews 627

My Beautiful Genome: Exposing Our Genetic Future One Quirk at a Time

By Dr Lone Frank

Published by Oneworld Publications

ISBN-10: 1851688331, ISBN-13: 978-1851688333

Buy this book from Amazon UK

'My Beautiful Genome: Exposing Our Genetic Future One Quirk at a Time' by Dr Lone Frank

My Beautiful Genome is the story of DNA told through one woman's quest to find out if the secret to her depression lies in her genes.

Lone Frank can look in the mirror and see her genetic heritage, her pronounced nose and thin frame from her mother's side; the elongated face and narrow lips from her father's. But what of her sarcasm? Or the way she can occasionally hear her father's voice coming from her mouth? As somebody prone to depression, she sets out to see if the answer lies in her DNA and if her personality is as much genetic as environmental.

Her trip takes her to meet Dr James Watson and his work on the genetic causes of neurological disorders. The first-hand experience of bringing up a son with schizophrenia has motivated him to find out more about the genetic causes of such diseases.

His view is the answer lies in random mutations, leading two healthy parents to produce a child with a genetic predisposition for mental illness. This observation flows seamlessly into a basic introduction to genes and the consequences of mutations, and the data that could be gained by sequencing an ever-growing number of full genomes.

The tale moves on to the relationship between genetics and kinship, exploring paternity testing and the trend for using genetic testing to find where our ancestors are from. Frank explores the different tests available and the ancestry they promise to discover - a goldmine for 'genetic genealogists'.

Frank next finds out what our genes can tell us about our health, starting with a trip to deCODE Genetics to discover her own risk profile. Confronted with a list of statistics for a selection of diseases, she explores what it means to know you have a lower or higher than average risk for a condition, and the databases that allow people to search their genetic information for links to behaviour and medical conditions. .

Some genetic associations, like the link between coffee drinking and breast size, seem trivial. Others, like the BRCA genes linked to breast cancer, are not. Franks'family history of breast cancer prompts her to push for a BRCA test, but she is refused because there are not enough incidences in her family. This reminds us why regular screening can be better than genetic testing.

The remainder of the book is devoted to examining the effects our genes have on 'us' - our personality. Whether we are thrill seeking, how aggressive we are and our chance of developing schizophrenia are all explored, along with work on the 'gay gene'.

Frank's experiences of depression lead her to investigate depressive and psychiatric illnesses and speak to those seeking to find out more about their heritability. She subjects herself to yet another test - this time to find out more about her own character through the 'five factor model' that categorises personality traits. More interesting to Frank is her genetic analysis, especially the gene variants thought to render an individual more vulnerable to depression.

Moving away from the brain, the final chapter explores how our genes influence our choice of partner - from favouring the smell of those with different HLA (human leukocyte antigen) genes from us to the gene for infidelity. She also investigates the successful programs set up to test for recessive diseases, such as the one available to Ashkenazi Jews. The chapter touches on bioethics, and whether choosing the best genes is good sense or eugenics, and the effects genetic testing has on our sense of identity.

Even though the genetics may be a little basic for somebody with experience, this book manages to do something textbooks miss - to bring home the connection between our genes and our identities. This is not just a clinical world of data and statistics, but also one person's journey with her reactions to her discoveries. A must-read for anyone considering taking a genetic test.

Buy My Beautiful Genome: Exposing Our Genetic Future One Quirk at a Time from Amazon UK.



04 March 2013 - by Reuben Harwood 
If asked to describe Eddie Izzard, your reply may include the words actor, comedian, transvestite and marathon runner. Well, now you can add 'part Neanderthal' to the list...
28 January 2013 - by Professor Sandy Raeburn 
Forty years ago I began to realise that the most interesting work in medicine lay at the interface of different specialties. Researchers who straddle such boundaries gain important insights but the experience can be daunting...
11 May 2012 - by Heidi Colleran 
'Don't use autobiography to justify past actions or motivations', says James Watson, famed for his part in the discovery of the structure of DNA, in the book he wrote about his life as a scientist...
03 October 2011 - by Dr Vivienne Raper and Ruth Saunders 
'We are not our genomes'. Lone Frank, the author of 'My Beautiful Genome – Exposing our Genetic Quirks, One Genome at a Time' spoke to BioNews about her latest book, the recent surge in direct-to-consumer genetic tests, the ethical dilemmas they could pose and what we can understand from such tests. As he says, 'genetics is a work in progress'...

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...
11 July 2011 - by Daniel Malynn 
Adam Wishart's documentary charted his personal journey to discover the secrets hidden in his genes. After his mother's death from breast cancer, Adam wanted to discover whether he too is genetically at risk of developing the disease. Looking at his immediate family history, he found seven of his mother's 14 brothers, sister and cousins died from cancer. Adam's mother, aunt and grandmother all had breast cancer...
27 June 2011 - by Antony Blackburn-Starza 
A genetic mutation has been associated with a rare and potentially serious heart condition called peripartum cardiomyopathy (PPCM) that can affect woman before, during or shortly after childbirth. Researchers say the findings could lead to the development of diagnostic tests for PPCM....


Event Review: Human Embryo Research - Law, Ethics and Public Policy

03 October 2011

By MacKenna Roberts

Appeared in BioNews 627

Human Embryo Research: Law, Ethics and Public Policy

Organised by the Anscombe Bioethics Centre

Corpus Christi College, Merton Street, Oxford OX1 4JF, UK

Thursday 8 September 2011

'Human Embryo Research: Law, Ethics and Public Policy', organised by the Anscombe Bioethics Centre, Thursday 8 September 2011

On 8 September 2011 the Anscombe Bioethics Centre (a Roman Catholic organisation named after the philosopher Elizabeth Anscombe) organised the conference 'Human Embryo Research: Law, Ethics and Public Policy'. This was topical, in a month when it was announced that Europe's first clinical trials using human embryonic stem cells to treat Stargardt's macular degeneration (an incurable disease causing blindness in youth) would take place in the UK.

Broadly speaking, there are three positions in respect of human embryo research: an absolute prohibition, ascribing the highest moral value of personhood to embryos; a gradualist compromise, ascribing some intermediary special value to embryos; and no prohibition, with the embryo akin to human tissue with no special moral value. Variations in different countries' policies depend largely on the way these perspectives clash.

The morning speakers at the conference presented the different conservative legal rationales that form the basis of laws governing embryo research in France, Germany, Ireland and Italy. France, Germany and Italy all placed an initial ban on the 'instrumentalisation' of embryos for research purposes, and have all since reviewed and slightly relaxed this ban. Ireland, by contrast, amended its constitution to expressly ascribe legal rights to the 'unborn', but then relied upon judicial interpretation to determine its policy.

In considering the constitutionality of embryo destruction in Roche vs Roche, the Irish Supreme Court shifted its focus onto implantation as the necessary step to determine an embryo's viability. It held that only when a willing mother has an embryo implanted in her womb is an embryo an 'unborn child' with legal rights, effectively placing in vitro embryos as an anomalous class of embryos outside the law. William Binchley, Regius Professor of Laws at Trinity College Dublin, disagreed with the Irish Supreme Court's conclusions. He criticised the court for not fulfilling its role in philosophical jurisprudence, and leaving several key 'areas of uncertainties in its wake', including if embryos are therefore equivalent to personal property.

On BioNews, I recently criticised the Catholic objection to human embryonic stem cell research as misplaced, when it should be directed at fertility treatments. Even if research is prevented, embryos will still be destroyed when discarded by the fertility clinics, because they are unwanted for the potential reproductive purposes for which they were created. Why ban embryology when the embryos will still be destroyed? The controversy in Germany, Italy and France focused on whether using unwanted IVF embryos in research is a justified exception.

Laura Palazzani, Professor of Philosophy of Law at Lumsa University in Rome, described a rather surprising tension in the Italian constitution which protects both human dignity (Article 3) and the freedom of research (Article 2). Italian jurisprudence, according to Professor Palazzani, tends to distinguish the protection of the embryo for scientific purposes from the protection of the embryo for reproductive purposes, but is unresolved when the two collide.

The French policy, like its fashion, is elegant: 'the fruit of human conception cannot be reduced to materials'. Jean-René Binet, Professor of Private Law at the University of Franche-Comté, described heated parliamentary debates in 2004 and 2008 when deciding whether to modify this principle in light of human embryonic stem cell research. The debate in France concerned whether 'the fruit of human conception' can be considered differently in different situations.

Christian Hillgruber, Professor in Public Law at the Rheinische Friedrich-Wilhelms University in Bonn, uncompromisingly adopts a one-pronged moral rights interpretation that human dignity is inviolable and inalienable as a German constitutional right without exception: 'These embryos are…human beings whose life may never be taken merely because it will end soon anyway and could be put to good use beforehand'.

The afternoon sessions tackled the challenge of defining dignity and translating this concept into public policy. Michael Hauskeller, Associate Professor of Sociology and Philosophy at the University of Exeter, led a fascinating discussion of the conventional meaning of dignity and of Immanuel Kant's argument that dignity depends on autonomy – a quality that embryos lack. He concluded that it is unclear whether embryos have dignity, because it is not a factual question.

The Anscombe Bioethics Centre's Director, Professor David Albert Jones, gave a presentation that was the highlight of the conference, in which he described an endemic lack of transparency in UK policy and regulation concerning embryo research. He mounted a sophisticated argument that UK policy assumes the pretence of a gradualist approach, using 'special status' moral language to describe the embryo, in order to disguise the fact that it is utilitarian in practice and ascribes little or no special status to the embryo.

Professor Jones argued that a gradualist approach is 'radically ambiguous', without concrete criteria to enforce: 'How much respect should be shown at what stage?' He accused UK policy of sidestepping the moral status of the embryo, and instead focusing on how to appease those who object to embryo research or assisted conception. Consequently, UK policy is instrumentalist in its use of moral language and its treatment of embryos, in order to manage public concern.

While gradualism may be unclear, I wondered how Professor Jones would suggest we legislate for a dignity approach, given that we had spent a day hearing how ambiguous that concept is. I also disagreed with his assertion that embryos are not protected in the UK, and I support the legal compromise that prohibits embryo research after 14 days. It is worth noting that an embryo that is 15 or more days old is fully protected from research under English law. This cannot reflect there being no moral status ascribed to the embryo.

The definition of a gradualist approach is affording 'some' status. Nebulous this may be, but the 14-day rule – arbitrary or not – was created to anchor it. The fact that embryo research up to 14 days is heavily regulated, using licensing and quality standards as precautionary red tape, should not be disregarded and surely does not result from 'no status' utilitarian law. What Professor Jones appears to object to is a permissive gradualist approach rather than a restrictive gradualist approach. This is an ideological conflict, not a public deception.

Similarly, when Professor Jones criticised the Human Fertilisation and Embryology Authority for only ever having refused one research licence, he failed to consider that a miniscule number of such licences are applied for, and they are submitted by skilled specialists who have learned what criteria must be met in order to receive approval. As a lawyer, I am familiar with the regulatory hurdles these researchers must clear for licensing, and I know that these studies are not conducted with the ease which Dr Jones seems to imagine.

Despite my disagreements with Professor Jones, I did think that he raised some valid criticisms of underrepresentation and patronising attitudes in policy formulation. Catholic perspectives on the human embryo may be infamously uncompromising, but the intelligent and thought-provoking presentations at this conference allayed my concerns of bias, and demonstrated how taking account of the Catholic view can enrich and inform public debate and policy.



21 December 2015 - by Wendy Suffield 
At PET's recent conference, Professor Azim Surani claimed that permission to carry out experiments on embryos beyond the 14-day rule could make a huge difference to research. It may be time to review the ethical reasoning behind this time limit...
16 April 2012 - by George Frodsham 
A palace made out of children's teeth? It sounds like an idea taken straight from a horror story, and yet this is how Liverpool-based artist Gina Czarnecki hopes to raise awareness about stem cell research....
02 April 2012 - by Rosie Beauchamp 
Civil liberty groups in the USA have filed a legal challenge to the 'personhood' ballot initiative in Oklahoma, as a separate measure known as the Personhood Act progresses through the State legislature...
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...



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