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Issue 922 (16 October 2017)


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




Human embryos donated for research: a gift that goes on giving

16 October 2017

By Dr Kay Elder

Kay Elder is senior research scientist at Bourn Hall Clinic

Appeared in BioNews 922

Successful IVF treatment crucially depends on the culture systems used, which must provide an optimal environment for healthy embryo development; yet most embryos arrest in culture or fail to continue development after implantation. Human embryo culture has long been based upon research into animal systems, the mouse model in particular. While culture systems have been refined over the past 30 years through clinical experience with human IVF embryos, many quality control protocols still involve testing materials in a mouse embryo culture system.

During the past decade, significant advances in biological techniques have provided increasingly sophisticated analysis of the molecular and genetic mechanisms regulating the health of gametes and embryos: a window has been opened onto previously inaccessible pathways of embryonic development. Over the past five years, experiments carried out using cryopreserved human embryos donated for research have revealed clear differences in early development between mouse and human embryos (Kujik et al. 2012; Niakan et al. 2012; Roode et al. 2013; Niakan & Eggan 2013; Huntriss et al. 2013; Menezo et al., 2013; Holubcova et al., 2015; Blakely et al., 2015; Boroviak et al. 2015; Petropoulos et al. 2016; Fogarty et al., 2017).

Every embryo generated during an IVF treatment cycle is used first and foremost for treatment; after fresh embryo transfer, surplus healthy embryos are frozen for future treatment. If these are no longer required, due to completion of family or other reasons, they can be donated for approved research projects. These surplus embryos are an immensely valuable and unique resource.

Further detailed research could potentially improve clinical IVF success rates, ultimately helping more patients to achieve their goal of giving birth to a healthy baby. However, such research requires specialised facilities and cutting-edge technology in academic centres with dedicated research staff – a situation that is beyond the scope of the majority of clinical IVF services.

At Bourn Hall Clinic in Cambridge, surplus embryos are cryopreserved in 40-50 percent of fresh cycles. On each anniversary of the date of freezing, patients are asked to inform the Clinic regarding their options for these embryos. Couples can choose to continue storage for future treatment, donate them to other couples trying to conceive (subject to strict criteria), ask the clinic to dispose of them (allow to perish: ATP), or donate them for research into early embryo development. In order to offer the option for research, we have established close collaborations with several university departments, and the Francis Crick Institute (FCI) in London, a biomedical facility dedicated to understanding the fundamental biology underlying health and disease. The research potential of these donated embryos is maximised in projects at these institutions.

At the end of every month, an average of 80-100 letters are sent to patients with embryos in storage, with an annual storage consent form that must be signed to confirm the patients' wishes regarding their embryos. Approximately 80 percent of the returned forms request continued storage; 10 percent indicate 'ATP', and another 10 percent choose the option of donating their embryos to research. Over 90 percent of patients who are sent research information return a signed consent form, and 80-91 percent of these patients have at least one healthy child. Around 25 percent have two or even three healthy children (twins plus singleton, or three singletons). Surplus embryos which resulted from these successful cycles have very high viability potential, and are particularly valuable for research.

Having completed their family, couples are often grateful for the opportunity to 'give something back'. They often comment that they recognise the importance of continued fundamental research to improve IVF techniques for other couples undergoing treatment in the future. Patients who have suffered the distress of repeated failure, or early or late miscarriages sometimes also choose to discontinue treatment and donate their remaining embryos to research.

Couples receive information about accessing our counselling services, about research into 'Understanding the biology of human preimplantation embryos, gametes and stem cells', and a comprehensive consent form to be signed by both partners. The research information and consent form were carefully composed by a multi-disciplinary team including policy and legal advisers, and extensively reviewed by ethics committees and the HFEA, Human Fertilisation and Embryology Authority. In addition to signing the consent document, several different paragraphs in the form must be acknowledged with both partners' initials, and the documents also confirm that all donated embryos will be used only in projects licensed by the HFEA, with strict regulatory oversight and review.

Every embryo donated for research makes an immensely valuable contribution to medical science, and is greatly appreciated. The information gained from the scientific studies will not only lead to optimisation of human embryo culture systems to improve fertility treatment, but also help in understanding the origin of defects and to avoid miscarriage. There is also the potential for developing new research tools that can lead to cures for many serious disorders.

The current landscape of scientific research is such that tremendous advances in the understanding of early development and disease processes are now a realistic possibility. In the UK, we are fortunate to have the HFEA as a governing body to ensure human embryos can be donated to research projects that have been approved and licensed after full ethical and legal consideration and review. The majority of UK IVF clinics will inevitably have embryos surplus to treatment in frozen storage. Giving patients the option of donating their surplus embryos to research projects transforms our understanding of human biology.

Development | 2015
Developmental Cell | 2015
Nature | 2017
Science | 2015
European Journal of Human Genetics | 2013
Development | 2012
Journal of Assisted Reproductive Genetics | 2013
Developmental Biology | 2013
Development | 2012
Cell | 2016
Developmental Biology | 2013


11 December 2017 - by Hane Maung 
Infertility affects one in seven couples in the United Kingdom. Currently in England, state-funded treatment for infertility is available under the NHS, although availability varies across different local clinical commissioning groups. Depending on the kind of infertility, treatment may include medical interventions, surgical procedures, and assisted reproductive technologies...
06 November 2017 - by Dr Lucy Frith, Dr Steve Lui and Professor Eric Blyth 
Once a couple or individual has finished their fertility treatment, the question of what to do with any remaining frozen embryos is often perceived as a difficult decision. There are, broadly, four options to choose from...
06 November 2017 - by Eleanor Taylor 
As a 33-year-old single woman, who also happens to work in a fertility clinic, babies are unsurprisingly never far from my mind. I spend a lot of time wondering whether I should freeze my eggs. A lot...

13 March 2017 - by Dr Dusko Ilic 
The regulatory mechanisms governing organ development are, in general, poorly defined. To recreate the complex processes involved in organ growth and maturation, scientists have started fiddling with three-dimensional (3D) cell culture...
30 August 2016 - by Helen Robertson 
A study comparing two common IVF media used by fertility clinics has found different outcomes in implantation success rates and birth weight...
06 June 2016 - by Anneesa Amjad 
The Dutch government is planning to change the law to allow for the creation of human embryos for research...
04 April 2016 - by Helen Robertson 
The presence of genetic abnormalities in cells taken from the placenta at the early stages of pregnancy does not necessarily mean that a baby will be born with a genetic disorder, a study in mice suggests....


FDA advisors back gene therapy for rare inherited blindness

16 October 2017

By Rikita Patel

Appeared in BioNews 922

The US Food Drug and Administration (FDA) advisory committee has backed the use of gene therapy to treat a hereditary disease for the first time.

Luxturna has been tested to treat patients who have inherited retinal dystrophy, a disease caused when both copies of the RPE65 gene carry a mutation. The eyes' ability to respond to light is increasingly impaired and patients eventually become blind.

'This would be the first approved treatment of any sort for this condition and the first approved gene therapy treatment for the eye, in general,' Dr Paul Yang of Oregon Health and Science University told National Public Radio. 'So, on multiple fronts, it's a first and ushers in a new era of gene therapy', he added.

In a clinical trial of 31 people, sponsored by Spark Therapeutics and led by Professor Albert Maguire of the University of Pennsylvania, Luxturna significantly improved the visual outcome in people aged between four to 44 years old who received the drug as a one-time sub-retinal injection, compared to a control group.

The injection consisted of a genetically engineered adeno-associated viral vector, which contained the normal copy of the RPE65 gene. When injected into the retinal cells, the gene expressed the RPE65 protein: a vital enzyme for normal retinal function.

The effectiveness of the therapy was determined by using a novel approach: multi-luminance mobility testing, which assesses how well a person is able to navigate and move under different light levels. At one year post-treatment, those who had received treatment showed improved visual acuity, compared to the control group.

However, there were a few complications, including events related to the procedure and permanent retinal damage caused by use of prednisone medication. Taking into consideration, all 16 members of The Cellular, Tissue, and Gene Therapies Advisory Committee (CTGTAC) decided the efficacy data outweighed the safety risks, and gave favourable recommendation to the FDA to approve Luxturna.

In most cases, the FDA follows the recommendations set by advisory committee but there is currently a series of unanswered questions, as outlined in the FDA briefing document. These include: 'what additional data, if any, would be necessary to support such repeat administration?' and, 'at what stage of clinical presentation do the benefits of therapy outweigh the risks?'

Furthermore, the long-term effects of the treatment are unknown. Speaking to NatureProfessor Mark Kay, a geneticist at Stanford University, California, said: 'I think we still need to have major improvements in the technology before we're going to be able to cure these diseases, but along the way there may be treatments that help make improvements'.

A decision from the FDA on Luxturna is expected by early next year.


27 November 2017 - by Theofanis Michailidis 
The US Food and Drug Administration (FDA) is taking an active stance against the use of 'do it yourself' gene therapy kits...
20 November 2017 - by Martha Henriques 
The US Food and Drug Administration has announced a fast-track review process for gene therapies and other regenerative medicine treatments...
19 October 2017 - by Jennifer Willows 
The US Food and Drug Administration have approved the world’s second gene therapy to target blood cancer...

09 October 2017 - by Dr Kimberley Bryon-Dodd 
Gene therapy has restored some vision in mice blinded by retinitis pigmentosa, an inherited degenerative eye disease...
03 May 2016 - by Sarah Gregory 
A trial of gene therapy for choroideremia, a rare form of inherited blindness, has partially restored the vision of several patients...
24 August 2015 - by Antony Blackburn-Starza 
An experimental form of gene therapy to treat blindness has been showed to restore some vision in mice....
15 December 2014 - by Dr Rosie Gilchrist 
Scientists have used gene therapy to restore some sight to animals with visual impairment similar to retinosa pigmentosa, a type of human blindness...


'Fertility' prediction tests for women do not work

16 October 2017

By Shaoni Bhattacharya

Appeared in BioNews 922

Tests which assess how many eggs a woman has in her ovaries do not accurately predict fertility, finds a new study.

So-called 'fertility MoT' tests gauge a women's ovarian reserve – how many eggs she has in her ovaries – by measuring biomarkers in blood or urine. But a new study of 750 women aged 30 to 44 suggests that the number of eggs a women has does not reflect how likely or easily she will get pregnant, at least in the short-term.

'Women are already using these as fertility tests. Over the years, they've worked their way into being in the mainstream without evidence,' study author Dr Anne Steiner at the University of North Carolina in Chapel Hill told STAT.

The study followed older women, with no history of infertility, who had been trying to get pregnant for at least three months. Women with biomarker levels of inhibin B, anti-Müllerian hormone (AMH) and follicle stimulating hormone, indicating low egg reserves, were no more or less likely to get pregnant than those with results suggesting normal egg reserves, six months and 12 months later.

Many fertility clinics routinely offer AMH tests on the assumption that 'women with a lower ovarian reserve would be less likely to respond to treatment', according to a statement from the US National Institutes of Health, which funded the study. The work was published in JAMA.

'Many more women are concerned about having their first child when older than was the case for previous generations, leading to pressure to seek "fertility tests",' said Professor Richard Anderson of the University of Edinburgh. 'This paper, confirming smaller earlier studies, shows that we do not have such a thing.'

He added: 'The most important test is whether a woman is ovulating, i.e. whether she is releasing an egg every month, rather than how many eggs she might have in reserve.'

Other experts agreed; Dr Channa Jayasena of Imperial College London told the UK newspaper the Daily Telegraph: 'Hormone levels change with time, so taking a snapshot today tells us very little about what women's fertility will be like tomorrow.'

He added: 'This study tells us that measuring these hormones to predict fertility in potentially worried and vulnerable women is wrong, and should be stopped.'

Dr Steiner concurred, telling STAT: 'Women with low values [for their ovarian reserves] are going to have unnecessary anxiety, and women with high values may be incorrectly reassured.'

She also noted that women should not use such tests to decide whether or not to freeze their eggs.


02 October 2017 - by Julianna Photopoulos 
A complaint about radio and internet advertisements for a major IVF clinic in Ireland has been upheld by the Advertising Standards Authority for Ireland...
04 April 2016 - by Dr Geeta Nargund 
Complete reproductive education, including regarding fertility issues, is the right of all our young people...
21 December 2015 - by Dr Rachel Brown 
An Australian study has found that a popular fertility test, available until 2013, significantly underestimated egg reserves...
12 November 2012 - by Joseph Jebelli 
A woman's fertility may be strongly linked to the age her mother was at menopause, according to research...
28 June 2010 - by Dr Gabrielle Samuel 
Women could soon find out how long they have left to start a family thanks to a blood test that determines when they will go through menopause....


Act now to investigate male infertility, urges expert

16 October 2017

By Annabel Slater

Appeared in BioNews 922

An expert in male fertility has called for urgent research into the stark decline reported in Western sperm counts (see BioNews 911).

Lifestyle factors, exposure to hormone-disrupting chemicals, disruption of fetal testes development, and trends in testicular cancer are four potential areas of research, said the expert in an editorial to the BMJ.

'Medical researchers cannot do it alone,' said Niels Skakkebaek, a professor of paediatric endrocrinology and andrology at the University of Copenhagen, and author of the editorial. 'We need health and research authorities that can see the urgent need for research in reproductive medicine, not just more infertility treatments, which are a short term solution for individuals not for the fertility of future generations.'

Earlier this year, a meta-analysis concluded that Western sperm counts had fallen by 52 percent between 1973 and 2011.

'Simple research questions urgently need answers,' the professor said.

He suggested the decline in sperm counts should be compared to trends in testicular cancer, as countries with a high incidence of this cancer also appear to report lower semen quality. Saying that rates in testicular cancer have more than doubled in recent decades, and increasingly in young men of reproductive age, this 'leaves little doubt that we should look into environmental causes – including lifestyle effects. Alterations in our genome cannot explain the observations as changes have occurred over just a couple of generations.'

Professor Skakkebaek also called for research into the impact of hormone-disrupting chemicals, such as pesticides, and maternal exposure could be linked to testicular dysgenesis syndrome, a male reproductive condition caused by disrupted testes development in the fetus. The professor first described this condition in 2001. Finally, he also questioned if decline in sperm could be correlated to lifestyle factors, including recreational drug use.

'Should we be worried about our future ability to reproduce ourselves, as some media coverage has claimed?' he asked.

'This inconvenient question makes sense when we look at what is going on in fertility clinics all over the world - more and more children are now born after in vitro fertilisation, intracytoplasmic sperm injection (ICSI), and insemination with partner or donor sperm.'

Professor Skakkebaek pointed out that despite the increase in live births from fertility treatment, fertility rates in many countries including Germany, Japan and Singapore remain well below the average of 2.1 children per woman. He also suggested use of ICSI may produce new generations with lower sperm counts (see BioNews 872).

Professor Allan Pacey of the University of Sheffield disagreed that increased use of assisted reproduction facilities or donor sperm were indicators of a male reproductive health problem, saying instead ‘this simply reflects changes in society brought about through economic development and social choice by couples about how many children to have and when to have them.'

However, he agreed that the increase in rates of testicular cancer as 'worthy of further investigation and is the most convincing argument I have heard for why we should be concerned.'

'These are indications of serious threats to male health in terms of infertility and male cancers. We must take notice and act to source the dangers and safeguard our mens' health,' said Sheena Lewis, emeritus professor of reproductive medicine at Queen’s University Belfast.

West Sussex County Times | 11 October 2017
Medical Xpress | 10 October 2017
Medpage Today | 10 October 2017
BMJ | 10 October 2017
Medscape | 10 October 2017


06 November 2017 - by Lea Goetz 
Men with infertility experience stigmatisation and a lack of support, a first survey on the subject found...
23 October 2017 - by Taqdeer Sidhu 
Sleep duration is associated with sperm integrity, according to a recent study in China...

25 September 2017 - by Shaoni Bhattacharya 
Men with obesity are more likely to have a poorer quality and quantity of sperm than men of a healthier weight, suggests a new study...
18 September 2017 - by Dr Kimberley Bryon-Dodd 
A type of chemical found in various personal beauty products and plastics may affect sperm and lower reproductive success, according to a new study...
14 August 2017 - by Professor Allan Pacey 
Twenty-five years ago, I recall sitting in a journal club in which the collective minds tore apart the then recently published (and still much quoted) meta-analysis by Elizabeth Carlsen, 'Evidence for decreasing quality of semen during past 50 years'. This BMJ paper made the headlines in 1992...
31 July 2017 - by Dr Katie Howe 
Sperm counts of men in developed nations have fallen by 52 percent in the last 40 years...


Over 50 new hearing genes found

16 October 2017

By Dr Greg Ball

Appeared in BioNews 922

Researchers have discovered 52 new genes essential for hearing in mice.

The discovery may help scientists understand the genetic component of hearing loss in humans, as well as providing new avenues of research for understanding the mammalian hearing system.

Importantly, the large number of hearing loss genes identified in this study demonstrates that there are many more genes involved in deafness in mouse and human genomes than we had previously realised,' said Professor Steve Brown, director of the Medical Research Council (MRC) in Harwell and senior investigator for this study.

The MRC Harwell forms part of the International Mouse Phenotyping Consortium (IMPC). The IMPC aims to identify the function of each gene in the mouse genome by generating 'knockout' mice, in which a single gene is inactivated and the impact on the mouse's health is assessed.

Over 3000 strains of knockout mice were screened and, of the 67 strains found to have impaired hearing, 52 arose from the inactivation of genes not previously associated with hearing.

'These increase our knowledge of the many genes and molecular mechanisms required for hearing and also provide a shortlist of new genes to investigate to discover the genetic basis of many human hearing loss syndromes,' said Professor Brown.

To assess hearing in mice, the scientists used the auditory brainstem response (ABR) test. This test uses electrodes positioned on the head to measure neural activity in response to sound, and can also be used to assess hearing in humans. Five different sound frequencies were tested, with the volume at which a neural signal is detected defining the hearing threshold at a particular frequency. The test enabled the scientists to identify mild or severe hearing impairments, as well as conditions which affected reduced hearing at only high or low frequencies.

The IMPC intends to produce a knockout mouse strain for each of the roughly 20,000 genes in the mouse genome. Following this latest study, it is expected that at least 450 genes will play a role in hearing.

Professor Brown also highlighted some of the more immediate clinical implications of the work. 'Testing these genes in people with hearing loss may help to improve diagnosis and counselling of patients,' he said.

The study was published in Nature Communications.

Nature Communications | 12 October 2017
The New Indian Express | 12 October 2017
Science Daily | 12 October 2017
Genetic Engineering & Biotechnology News | 12 October 2017


27 February 2017 - by Caroline Casey 
Scientists have developed a way of growing thousands of human hair cells – sensors in the inner ear that detect sound – from stem cells...
13 February 2017 - by Jamie Rickman 
An improved gene-therapy technique using a synthetic virus has restored the hearing of deaf mice up to the level of a whisper...
06 February 2017 - by Caroline Casey 
A novel gene therapy technique has partially restored hearing and balance in deaf mice...
13 July 2015 - by Dr Greg Ball 
A technique that delivers genes into the inner ears of mice has been used to restore hearing, marking the first time that gene therapy has been successfully used to treat deafness...


Skin colour genes study gives evolutionary insights

16 October 2017

By Hannah Tippett Simpson

Appeared in BioNews 922

Some dark skin tones have evolved relatively recently from paler genetic variants.

A study of genetic variation and skin colour in African populations has illuminated a number of gene variants that affect the levels of pigmentation expressed in the skin, and their likely evolutionary basis.

'People have thought it was just light skin that has been evolving,' said Dr Tishkoff to New Scientist. 'I think dark skin continues to evolve as well.'

A team of researchers lead by Dr Sarah Tishkoff of the University of Pennsylvania, Philadelphia, genotyped nearly 1600 volunteers from ethnically and genetically diverse African populations. Using a measure of light reflectance from their skin as a proxy for pigmentation levels, the team conducted a genome-wide association study (GWAS). Their results identified four genomic regions associated with skin colour, accounting for approximately 30 percent of the variation in skin pigmentation between the volunteers.

Previous work focusing on the MC1R gene had lead to the general belief that dark skin colour was a consistent phenotype throughout Africa – largely due to its ability to protect against harmful levels of UV radiation.

'They thought [MC1R] shows that there has been selection for dark skin in Africa and therefore there’s no variation,' Dr Tishkoff told New Scientist.

This new work identified mutations in the gene MFSD12 which lead to reduced pigment expression, variations of which are more frequently observed in darker skinned individuals. These variations are thought to have emerged more than 300,000 years ago suggesting that ancestral humans had moderate pigmentation, instead of the very dark skin tones seen in populations such as the Dinka in South Sudan.

In addition, many of the other variants examined in the study also appeared before the emergence of modern humans. In many cases the older variants were associated with less pigmentation and hence lighter skin. This could suggest that darker skin tones have evolved from a lighter-skinned ancestral state.

'Many of the gene variants that cause light skin in Europe have origins in Africa,' Dr Tishkoff told Science Magazine.

The study also belies the idea of distinct biological races. Dr Tishkoff said: 'There is so much diversity in Africa that's not often appreciated. There's no such thing as an African race.'

The study was published in Science.


13 March 2017 - by Lone Hørlyck 
A gene variant resulting in red hair and fair skin, already known to increase the risk of melanoma, may also predispose carriers to the development of Parkinson's disease, a recent study conducted in mice has found...
11 April 2016 - by Rikita Patel 
The gene responsible for red hair raises the risk of melanoma whether or not people spend a long time in the sun, a study says...
09 June 2014 - by Dr Lucy Freem 
Research on mouse fur colour has shown that a single-letter DNA change – the smallest possible change in DNA – can account for the variation in hair colour that produces blonde hair in humans...


Northern Ireland U-turn on proposed fertility funding cuts

16 October 2017

By Jennifer Willows

Appeared in BioNews 922

IVF services in Northern Ireland have had a reprieve, but cuts will go ahead in parts of Hertfordshire.

The Northern Ireland Department of Finance has used devolved powers to reallocate unspent funds including £40 million to the health service, averting planned cuts to fertility services.

In part due to the political deadlock at Stormont, health services in the region were facing a £70 million shortfall. A number of cuts had been proposed (see BioNews 918), including effectively removing funding for the one cycle of IVF per couple currently offered in Northern Ireland by deferring all referrals to the regional fertility centre until April 2018.

Belfast Health and Social Care Trust said that the reallocated funds 'will allow us to stand down almost all of our major and controversial proposals'.

Meanwhile in Hertfordshire, East and North Hertfordshire Clinical Commissioning Group (CCG) has reduced its offer from three cycles on the NHS per couple (as recommended by NICE) to one, as part of a package of money-saving measures.

Dr Nicky Williams of the North Hertfordshire CCG said: 'Most people in the East and North Hertfordshire CCG area who responded to our consultation told us that they wanted to retain some NHS funding for IVF and specialist fertility services, so I am pleased that our CCG has been able to do this, although provision has been reduced to one cycle.'

Neighbouring Herts Valleys CCG, which previously offered one cycle, has decided to remove IVF funding entirely for at least a year.

GP Corina Ciobanu, a member of Herts Valley CCG, said to the Welwyn Hatfield Times: 'We debated this at great length. We are in a dire financial situation and we are in danger of having to stop really basic services. The GPs have taken pay cuts, the acting staff, everybody, we are really squeezed to the limit.'

Herts Valley's chairman, Dr Nicholas Small, told the Watford Observer: 'Proposals on IVF services in particular generated strong feelings and it was an especially difficult decision.'


23 October 2017 - by Dr Michelle Rodgers 
Equity and access are among the most urgent issues for medically assisted reproduction. According to Ireland's Health Research Board, across Europe six countries offer full public funding, and 19 countries offer partial public funding...

18 September 2017 - by Dr Michelle Rodgers 
In 1948, UK health secretary Aneurin Bevan spearheaded the creation of the National Health Service with the aim of providing healthcare access to all, irrespective of a patient's financial situation. The NHS has since become the world's largest publicly funded health service...
14 August 2017 - by Dr Kimberley Bryon-Dodd 
Funding cuts by the UK's National Health Service has meant that 13 areas in England have restricted or halted IVF treatment since the start of 2017, according to Fertility Network UK...
27 March 2017 - by Rikita Patel 
New patients referred for infertility treatment by their doctors will now have access to three cycles of IVF on the NHS in Scotland...
12 December 2016 - by Dr Rachel Brown 
Only 16 percent of Clinical Commissioning Groups in England follow the national guidance on access to NHS fertility treatment, according to an audit by campaign group Fertility Fairness...


Gene test could improve prediction of breast cancer risk

16 October 2017

By Hannah Somers

Appeared in BioNews 922

A new genetic test to accurately predict an individual's risk of developing breast cancer will soon be rolled out at two hospital clinics in Manchester.

The research team believe the test could reduce the number of women opting for pre-emptive mastectomy by as much as one-third in those with a BRCA mutation, and give breast cancer patients the chance to make more informed decisions.

'With more accurate genetic testing, we can better predict a woman's risk of developing the disease and therefore offer the appropriate advice and support, rather than a "one size fits all" approach,' said Lester Barr, chairman of Prevent Breast Cancer, a UK charity based in Manchester which part-funded the research.

Breast cancer has been shown to be linked to mutations in the BRCA1 and BRCA2 genes, however mutations in these genes only account for 15-20 per cent of cases of hereditary cancer.

The new test assesses an individual's risk of developing breast cancer by analysing genetic variations at 18 positions within their DNA code. These variants are known as SNP (single nucleotide polymorphism) and have been shown to be indicative of breast cancer risk in women who do not carry BRCA mutations. While they showed minimal effects individually, when data on the SNPs was combined together, it affected a person's risk considerably.

The case-control study group consisted of 451 women with a family history of breast cancer, who had also developed breast cancer. Of these, 112 carried BRCA mutations. The researchers compared genetic profiles of these women against a control group of 1605 women (691 of whom carried BRCA mutations).

Researchers also took into account other factors when calculating risk, including age at first assessment, height and weight, and family history of breast cancer.

Many women who had previously been classified as high risk (with a 30 percent chance or higher of developing the disease during their lifetimes) were reclassified as lower risk, a group in which mastectomy is not recommended. 

The predictions devised during this research have been confirmed by Prevent Breast Cancer's 'Predicting Risk of Cancer at Screening' (PROCAS) study, in which 10,000 women underwent SNP testing, and 455 then went on to be diagnosed with breast cancer.

Initially this new test will only be available at St Mary's and Wythenshawe hospitals in Manchester, however Prevent Breast Cancer is hopeful this will be available to the whole population 'in the next one to two years'.

'This new test will help women at risk of familial breast cancer to make more informed decisions about their care,' said Professor Gareth Evans, at the University of Manchester and St Mary's Hospital, who led the study.

'BRCA1 and BRCA2 are just part of what we should be looking for when assessing risk and in Manchester we plan to incorporate screening for these new genetic markers in clinical practice within the next six months,' he added.


13 November 2017 - by Dr Loredana Guglielmi 
Researchers have introduced new criteria to screen for BRCA gene mutations that could prevent more than 10,000 cases of cancer and save more than 2000 lives in the next decade...
30 October 2017 - by Annabel Slater 
Two studies have discovered 72 new genetic variants associated with the risk of developing breast cancer...

13 February 2017 - by Hannah Somers 
A study has indicated that US doctors may not be recommending genetic testing to a sufficient number of high-risk breast cancer patients...
16 January 2017 - by Annabel Slater 
Canadian scientists have identified a genetic fingerprint that indicates which prostate cancer tumours may develop into a more aggressive form of the disease after treatment...
19 December 2016 - by Anastassia Bolotkova 
Angelina Jolie's 2013 public announcement that she has the BRCA1</i> breast cancer gene led to a 64 percent increase in women seeking genetic testing for breast cancer...
11 July 2016 - by Antony Blackburn-Starza 
Genetic mutations on several genes including BRCA2 have been associated with prostate cancer; while in a separate study, a BRCA1 mutation has been linked to a particular form of uterine cancer...


Most versatile stem cells yet created

16 October 2017

By Helen Robertson

Appeared in BioNews 922

Scientists have created the most versatile stem cells to date, which could boost research into the reasons behind failed early pregnancies.

Unlike any other stem cell types that are current used in research, the so-called Expanded Potential Stem Cells (ESPCs) retain the features of very early embryonic cells, and can develop into any type of cell.

'This new method of producing stem cells could be enormously helpful for studying development, more efficiently generating functional human cells, and researching treatments for pregnancy problems such as pre-eclampsia and miscarriages,' said Dr Jian Yang of the Wellcome Sanger Institute, and one of the first authors on the paper, published in Nature.

Embryonic stem cells (ES) and induced pluripotent stem cells (iPS) are commonly used to investigate developmental disorders and diseases. Yet ES cells are normally taken from blastocysts made of around 100 cells, and iPS cells can be created from adult cells. This means they are already set on certain developmental pathways and cannot become certain cell types.

In the study, researchers took cells from mouse embryos at much earlier stages of development, and treated them with a cocktail of chemicals that stopped them from developing any further. The ESPCs retained the genetic features of these very early embryonic cells.

'The earliest cell is like a blank piece of paper, in theory it should have the greatest development potential. This is the first time that stable stem cell lines of these earliest mouse cells have been possible, and we see that they do indeed keep the molecular features of the 4-8 cell embryo and can develop into any cell type,' said Dr Pentao Liu, principal investigator at the Wellcome Trust Sanger Institute and lead author.

Importantly, these cells even retain the capacity to form the placental or yolk sac cells that are necessary to support pregnancy and embryonic development. As many pregnancies fail at an early stage due to problems with these tissues, it is hoped that ESPCs could be used to investigate the genetic causes behind early miscarriages.

The scientists also found that the chemical growth conditions used to induce ESPCs were able to reprogram existing mouse ES cells and iPS cells, taking them back to an earlier developmental state. The team says its methods could be used to produce similar stem cells from humans and other species where stem cell lines are not yet available.

'The research also has great implications for human regenerative medicine as stem cells with improved development potential open up new opportunities. Further research in this area is vital, so that we can properly explore the potential of these cells,' said co-author Professor Hiro Nakauchi of Stanford University.


13 November 2017 - by Paul Waldron 
A boy with a rare skin disease has been successfully treated by replacing most of his skin with grafts of stem cells modified by gene therapy.

27 March 2017 - by Dr Rachel Huddart 
Rapid advances in stem cell and embryo research are in danger of outstripping current ethical guidelines and new regulations are urgently needed, warn scientists in a report published this week...
06 March 2017 - by Anna Leida 
Stem cells from an adult mouse have been used to grow a structure resembling a mouse embryo in vitro for the first time...
23 January 2017 - by Dr Loredana Guglielmi 
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Book Review: Bioinformation

16 October 2017

By Ryan Ross

Appeared in BioNews 922


By Dr Beth Greenhough and Professor Bronwyn Parry

Published by Polity Press

ISBN-10: 1509505466, ISBN-13: 978-1509505463

Buy this book from Amazon UK

Since 2011, Polity Books has published a number of books in its 'Resources Series', which have focused on subjects like diamonds, oil and timber. Yet its forthcoming volume marks something of a shift, for its focus is bioinformation – that is, data from or about biological organisms, created for a variety of functions (e.g., to identify particular genes or people), and which includes medical records and DNA databases, along with archived pathological samples and the results of clinical trials.

As is suggested by the volume’s authors, Professor Bronwyn Parry and Dr Beth Greenhough, the inclusion of Bioinformation within the series is, at first glance, somewhat incongruous: after all, unlike diamonds, oil and timber, bioinformation is not a finite resource. Neither is bioinformation unitary, tangible or easy to identify. Yet, as Professor Parry and Dr Greenhough compellingly show, bioinformation is subject to just as much contention over ownership and extraction as other resources. This, the authors argue, is because bioinformation is not mere data to be extracted from an organism, but is created through the process of extraction – it progresses through so many processes that the data becomes technical inventions. The central focus of Bioinformation is the political and ethical issues that arise from this process of creation and, later, commercialisation.

Professor Parry and Dr Greenhough – of King’s College, London and the University of Oxford, respectively – develop their discussion with recourse to case studies. The first focuses on those who donate to biobanks and their reasons why. Biobanks have, after all, grown rapidly in the past few decades; notable examples include forensic databases such as the UK National DNA Database and personal biobanks (where consumers donate their genetic material to companies in order to trace their ancestral roots). Worryingly, however, Professor Parry and Dr Greenhough draw attention to discordant understandings between those collecting and those donating bioinformation. The former, for instance, often assume that samples are donated altruistically. Meanwhile, the authors point to research, commissioned by the Progress Educational Trust (which publishes BioNews), that suggests that some donors think of personal biobanking as an informal health-check – this despite how rarely biobanks provide feedback.

Protections for donors are also light, according to Professor Parry and Dr Greenhough: the donation of genetic material may implicate close family members, and the increasing ease with which data can be cross-referenced renders anonymisation redundant. Furthermore, there are serious questions as to whether a donor's consent can ever be truly informed (for how do they know how their data will be used ten, twenty or thirty years from now?). Admittedly, as Bioinformation documents, donor data may be protected through academic practices: for example, some journals refuse to publish research produced without the donor's informed consent. Yet such protections do not apply to commercial settings and, as Professor Parry and Dr Greenhough also show, some biobanks have effectively grown through a process of 'mission creep', of increasing the remit of the biobank to the point that it includes much more data than was originally envisaged: the UK National DNA Database, for example, was originally meant to hold samples from only those convicted of crimes, but was then later permitted to retain data from the innocent, too.

Discordant lay and medical approaches towards clinical data echo throughout the early chapters of Bioinformation. For example, the authors document the means through which courts came to recognise human tissue – formerly believed to be unpatentable – as capable of being human property. By blending human tissue with the labour through which that tissue was identified, extracted and translated, the law has over the past three decades came to recognise the proprietary rights of those who collect bioinformation. Yet, as the authors show, lay understandings of ownership have not followed suit. Hence why researchers and commercial organisations have been accused of extracting valuable bioinformation from socially-deprived groups or populations, without then sharing that research (or the proceeds of it) with donors.

In the early chapters of Bioinformation, Professor Parry and Dr Greenhough adopt a curiously neutral tone, documenting what they perceive to be the inequities that have attended the accumulation and use of personal data, but otherwise leaving their own views out of the discussion. Granted, they offer suggestions here-and-there for re-tilting the balance in favour of donors – better education, an end to a culture of scientific entitlement, greater use of genetics-counselling – but the first two-thirds of Bioinformation remains more expository than argumentative. The effect is a highly readable if somewhat unmemorable book, only slightly marred by what feels like excessive use of signposting (where themes are frequently introduced then fuller discussion is deferred until a later chapter).

Where Bioinformation hits its stride is in the final one-third of the text. Parry and Greenhough are caustic about the recent imbrication of bioinformation with so-called 'big data'. They iterate their earlier comments about the relative ignorance of donors, while also seeming to imply that some ought to know better (e.g. what do people think happens to the information they share on social media or upload to fitness apps?). But Bioinformation reserves its sharpest criticisms for the use of large-scale data-sets to try and identify genetic markers or other identifiers of diseases. They have skewed medical thinking, the authors argue, blurring causation and correlation, and have unintentionally gifted insurance-companies and other organisations with fresh groups to extort.

It is the final chapter of Bioinformation where Professor Parry and Dr Greenhough develop their argument in a more novel direction. The authors promote a profound re-thinking of how data is shared via open commons, while advocating for a new model for owning bioinformation – one in which the holders of the data act as custodians, and where biobanks are constituted as charitable trusts. Furthermore, and as a consequence of miscarriages of justice from lab mix-ups, Bioinformation also encourages the creation of a system by which donors can challenge the use of their data.

The most radical idea advanced by Professor Parry and Dr Greenhough, however, is reserved for the very end of the book. Here, it is argued that one of the most effective ways of correcting the imbalances produced by the accumulation of large swathes of data would be taxation. Whether any revenue is raised is immaterial. Rather, the importance of taxation lies in the creation of paper-trails – documents that chart the why, when and where of bioinformation, and ensuring the donors have some mechanism by which they can trace who owns what is a highly valuable resource. It is a pity that such a bold agenda is reserved for the final ten pages. Nevertheless, Bioinformation offers an interesting, readable introduction to its subject matter, while suggesting promising avenues that future research might explore.

Buy Bioinformation from Amazon UK.



18 September 2017 - by Professor Becki Bennett 
A public event held on 11 September 2017, Manchester by the Progress Educational Trust...
22 May 2017 - by Jennifer Willows 
Customers of Ancestry's consumer DNA tests may be unaware of what they have signed away, a US lawyer has suggested...
25 July 2016 - by Anneesa Amjad 
A British biotech company has purchased a biobank containing the genetic information of almost 13,000 genealogically linked residents from the region of Ogliastre in Sardinia...
12 December 2013 - by Dr Ruth Stirton 
23andMe and UK Biobank are both large genetic databases: big enough to engage in serious population genetic research. But 23andMe has not undergone any ethical approval processes - think what they could do if they sold their database...



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