The video features Sally Cheshire, Chair of the Human Fertilisation and Embryology Authority (who this month was awarded a CBE for services to the NHS and fertility patients). She addresses controversies surrounding IVF 'add-ons', and argues that the fertility sector should be innovating responsibly.
The video was produced by Annabel Slater, Genetics Editor at PET and BioNews.
The HFEA is currently working with the charity Fertility Network UK to find out what current and former fertility patients think about add-ons.
The controversial issue of IVF 'add-ons' – techniques and treatments offered to fertility patients on top of standard IVF – has been the subject of intense debate and media attention since last November's BBC Panorama's documentary, which claimed that many techniques advertised on fertility clinics websites were not backed up by good scientific evidence of success...
For decades, Germany has been nationally and internationally regarded as a country with little regulation regarding third-party reproduction: treatment with donor sperm and donor embryos (egg donation is forbidden). Recently however, the German government has passed a law that will regulate the right of offspring conceived by donor insemination (DI) to access their biological origins.
In Germany, as in many countries, it has been difficult for donor conceived people to obtain information about their donor from clinics. In many cases, children conceived through sperm donation had to take legal action, as legislation clarifying the documentation period was only introduced in 2007. Prior to this, there was no legislation mandating a minimum period of documentation storage, and many clinics only kept records for 10 years.
In 2018, the Sperm Donor Register Act (SaRegG - Samenspenderregistergesetz) will be introduced. As a result of this Act, clinics will have to ensure that the data about the donor and the mother is supplied to a central register and documented for a minimum of 110 years.
Alongside SaRegG, the German Civil Code will be adapted. In §1600 d (4) of the Civil Code, it will be regulated that in the case of medically assisted donor insemination, the 'sperm donor cannot become the legal father of the resulting child'. This had been an area in which Germany's position differed from many other nations: in the regulatory vacuum, the sperm donor faced the risk of becoming a legal parent of the child conceived with his donated semen.
In other countries, the exclusion of the donor as a legal parent may have been considered necessary so that men are willing to donate. In Germany, this important step was long disputed. Many constitutional concerns were expressed that these offspring could be – in contrast to other children – hindered in determining their genitor as their legal father.
The new Act is in itself a major step forward. However, some aspects can also be regarded as particularly progressive from an international perspective:
No minimum age to access data
While donor offspring have a right to access information about their donor from 16 years of age, the parents as their legal guardians can access this information any time earlier – theoretically from immediately after birth.
In addition to donor identity, the sperm donor is invited to leave supplemental information for the child. The scope of his information was not limited by the legislature and can include a short bio, more detailed information about his motivation to donate, a photo or any other information the donor chooses to provide.
Retrospective data regulation for offspring conceived prior to the Act
The central register is only for data relating to offspring conceived after the new Act comes into force. For reasons of data protection, it was considered impossible to include data collected before. However, as a result of controversial debates during the last few weeks, the Act now stipulates that all data prior to 2018 will have to be documented by the clinics for an equally long period (110 years). Thus, any destruction of data currently available is prohibited.
The influence and the ongoing oral and written submissions of German lobby associations such as the DI-NETZ, BKiD and Spenderkinder (an organisation of adult offspring), have played a significant role in these debates.
There are some issues that we believe will require more debate and convincing, and will hopefully be addressed once the Act has been adopted. These include:
An additional voluntary register for contacting donor siblings.
The inclusion of data resulting from embryo donation.
The provision of psychosocial support prior to and post contacting the donor and/or half-siblings.
Limiting the number of offspring or families per donor.
The implementation of ongoing research in this area, including an evaluation of the donor data for Germany. Currently, there is no knowledge how many cases of DI are carried out in Germany, nor how many children are conceived this way abroad.
It should be possible for clinics to transfer their data to the central register once donors and families have consented, to provide a unified path to all offspring seeking information.
We have worked in the field of Assisted Reproductive Technologies in Germany for over 15 years. Although this Act is not as comprehensive as it could be, it is with great joy and relief that we can finally welcome legislation clarifying the most essential aspects of donor insemination.
From November 2017, patients will no longer be able to receive IVF at the Bristol Centre for Reproductive Medicine (BCRM), Southmead Hospital.
North Bristol NHS Trust has decided to end the provision of IVF treatment, though patients will still have access to fertility assessments, investigations and surgery. A consultation about the recommissioning of assisted conception services, and the service specifications will run until 30 June 2017.
'Following a strategic review in 2016, the Trust has decided to stop providing specialist licensed fertility services from November 2017 in order to focus on its core activity of providing acute NHS services. General infertility services including diagnosis and investigation will however continue to be provided by the Trust as normal,' read a statement from the South Gloucestershire Clinical Commissioning Group (CCG).
North Bristol NHS Trust says that the change is due to a rise in the number of couples paying for their own IVF treatment, with a reduction in the number of patients at the clinic receiving their treatment on the NHS. These changes have resulted from the reduction in numbers of funded cycles and restrictions on eligibility by local CCGs.
This decision to close the clinic may mean that patients need to travel considerable distances to receive IVF treatment. However, according to the BBC, the Bristol, North Somerset and South Gloucestershire CCGs deny claims that patients would need to travel outside the region. A spokesperson said: 'The proposed location of services will be taken into account when assessing bids by prospective providers as we would not want patients to travel any further than is necessary for treatment.'
The BCRM has provided fertility treatment to couples since 2008. The CCG has confirmed that fertility services at the BCRM will be transferred to a new provider from December 2017.
BCRM patients who are currently undergoing treatment, or in the treatment planning stage, will still be able to complete their cycles. gametes and embryos currently in storage at this facility will continue to be stored by a licensed regulated provider.
Preeclampsia – a dangerous rise in blood pressure in pregnant women – has been linked to a genetic variant found in the baby, instead of the mother.
'Over the years, people have looked at mothers' genes', said lead author Dr Linda Morgan of the University of Nottingham. 'This is the first large study to look at babies' genes'.
The study, published in Nature Genetics, carried out a genome-wide association study (GWAS) to compare 4380 mothers and children affected by preeclampsia with over 300,000 pairs who were not, in England, Iceland, Norway and Finland. It identified DNA variations near the geneFLT1 as being linked to increased risk of preeclampsia. FLT1 is involved in blood vessel formation and had been previously linked to preeclampsia.
The study is the first to show an effect of fetal DNA on the health of a mother.
Identifying FLT1 in the child 'makes a lot of sense', says Dr Ananth Karumanchi, a vascular biologist at Beth Israel Deaconess Medical Centre in Boston, who was not involved in the study. Preeclampsia is thought to start in the placenta, which mainly consists of cells from the fetus.
The gene variant was only associated with one subtype of preeclampsia: late-onset preeclampsia, which develops after 34 weeks of gestation. A baby carrying one copy of the gene variant would increase the mother's risk of preeclampsia by about 20 percent.
Although the finding might lead to better treatment in the future, Dr Morgan is cautious: 'The importance of these findings lies in the insights which they give to the underlying mechanisms that lead to pre-eclampsia'. She added that other risk factors are known to be much stronger, including previous high blood pressure or carrying twins.
Preeclampsia affects about one in 20 women during the second half of their pregnancy and is marked by high blood pressure and proteins in the mother's urine. If left untreated, it can lead to seizures in the mother which can be fatal to her or the fetus.
'Because pre-eclampsia has its origins in the very early stages of pregnancy, during the formation of the placenta, research into the causes and processes of the disease has always been challenging,' said Dr Morgan. 'Now modern genome wide screening and its data analysis allows us to look for clues in the mother's, father's and their baby's DNA.'
The team are currently testing the DNA of a further 4220 babies from Kazakhstan and Uzbekistan for the same genetic variant.
Eliminating the faulty protein that causes Huntington's disease goes some way to reversing disease progression in mice, a study has found.
Scientists used the genome editing technique CRISPR/Cas9 to 'switch off' the disease-causing gene in mice brains, alleviating many associated symptoms, though not to the level of healthy mice.
'The findings open up an avenue for treating Huntington's as well as other inherited neurodegenerative diseases, although more testing of safety and long-term effects is needed,' said Professor Xiao-Jiang Li at Emory University School of Medicine, USA, and senior study author. The work was published in Journal of Clinical Investigation.
Huntington’s disease is a genetic condition caused by a mutant form of the huntingtin gene (mHTT). It produces a toxic protein that accumulates in brain cells and causes progressive cognitive and motor decline, typically in mid-life, eventually leading to death.
The team of researchers used adult mice that contained the human form of the mutant gene, and were already showing signs of the disease. Using CRISPR/Cas9, they introduced genetic changes in an afflicted region of the brain that prevented further production of faulty protein. After three weeks, the mouse brains showed a reduction in the build-up of the mutant protein, and a concomitant improvement in their physical functions - although not to the levels of the control mice.
These observations highlight the ability of brain cells to repair themselves, the researchers believe.
Extending the results to human patients, the authors wrote: 'Thus, reducing mHTT expression in the brains of elder HD patients might still be effective in alleviating neurological symptoms.'
The scientists also sequenced the entire genome of the mice brain cells, which showed that genetic changes had predominantly occurred in the targeted gene. These results follow concerns about the safety and specificity of CRISPR/Cas9 genome editing raised recently, particularly incidences of unwanted mutations and changes in unintended parts of the genome (see BioNews 903).
The fourth session of the Progress Educational Trust's annual conference 'Rethinking the Ethics of Embryo Research: Genome Editing, 14 Days and Beyond' delved into the new genome-editing technique CRISPR/Cas9 and what it means for embryo research...
A study of almost 10,000 women carryingBRCA mutations has revealed the best estimate yet of their risk in developing breast and ovarian cancer.
The scientists say the findings could help clinicians decide on cancer screening timelines and prevention strategies for BRCA mutation carriers.
'This is the largest and most scientifically rigorous study to date without question,' said Professor Kelly-Anne Phillips of the Peter Mac Breast and Ovarian Cancer Risk Management Clinic. 'We used data from a large number of studies running internationally'.
BRCA1 and BRCA2mutations can increase the risk of breast cancer five-fold and ovarian cancer up to 30 fold, depending on the exact type of the mutation and its location within the gene. However previous studies have produced a wide variation in cumulative risk estimates for breast and ovarian cancer, and most studies have only looked at carriers who have already developed cancer.
The new study, led by the University of Melbourne and Cancer Council Victoria, Australia, recruited almost 10,000 women from Europe, the United States, Canada, Australia and New Zealand through three consortia. Of the 6036 women carrying the BRCA1 and 3820 women carrying the BRCA2 mutation, almost half had breast or ovarian cancer or both at study's onset. The researchers established each participant's family history of cancer and the exact location of their mutation before following them for an average of five years.
They found that BRCA1 carriers were most likely to develop breast cancer in their 30s and BRCA2 carriers in their 40s. The lifetime breast cancer risk was 72 percent for BRCA1 and 69 for BRCA2 carriers, with risks remaining high until age 80. This finding contradicts previous thinking that risk is reduced if a carrier reaches 60 without a cancer diagnosis.
For ovarian cancer the risk was 44 percent for BRCA1 and 17 percent for BRCA2 carriers.
Other key findings included the discovery that carriers were at higher risk of both cancers if they had first- and second-degree relatives with breast cancer. The risk could also be doubled if the mutations were in specific regions of the BRCA1 or BRCA2genes.
Women who have had cancer in one of their breasts had a cumulative risk of 40 percent for BRCA1 and 26 percent for BRCA2 of developing cancer in the other breast after 20 years.
'We have been able to provide the most precise estimates of age-specific risks to date,' said lead author Dr Antonis Antoniou of the University of Cambridge. 'These should provide more confidence in the counselling and clinical management of women with faults in the BRCA1 and BRCA2 genes.'
The researchers caution however that they did not distinguish between different breast and ovarian cancer tumourphenotype in their study, or the effect of certain medications to reduce risk of breast cancer. Furthermore, the study participants were not identified through population screening of unaffected women, and so the risk estimates are not representative for all women.
The 'liquid biopsy' can be used to choose effective drug treatment options for men with advanced prostate cancer, as well as to monitor drug resistance, according to the study published in Cancer Discovery.
'Our study identifies, for the first time, genetic changes that allow prostate cancer cells to become resistant to the precision medicine olaparib,' said Professor Johann de Bono, from the Institute of Cancer Research (ICR), London. 'From these findings, we were able to develop a powerful, three-in-one test that could in future be used to help doctors select treatment, check whether it is working and monitor the cancer in the longer term.'
The scientists monitored DNA released by prostate cancer cells in regular blood samples taken from 49 men with advanced prostate cancer. The men were enrolled in a clinical trial of the targeted cancer drug, olaparib.
After eight weeks of treatment, tumour DNA levels had halved in the blood of patients who responded to olaparib. In contrast, DNA levels rose by two percent on average in those who did not respond to the drug. Men who had a greater than 50 percent drop in tumour DNA after eight weeks of treatment also survived longer.
Dr Áine McCarthy at Cancer Research UK said the blood test was an important development with the 'potential to greatly improve survival for the disease'.
The researchers also investigated why some men stopped responding to olaparib. It belongs to a class of drugs called PARP-inhibitors that help kill cancer cells with mutation in genes involved in DNA repair, such as BRCA1and BRCA2. By closely analysing the tumour DNA, they found new genetic changes that cancelled out the original mutations, causing the drug to become ineffective.
Professor Paul Workman, chief executive and president of ICR, said that the test could 'usher in a new era of precision medicine for prostate cancer' and that 'blood tests for cancer promise to be truly revolutionary'. He added that because the tests are cheap, simple to use and non-invasive they could potentially be used to monitor patients early on in treatment.
The blood test is still in early clinical trials involving small numbers of patients, but the researchers are hopeful that the test will help provide greater targeted treatment for patients with fewer side effects.
'Not only could the test have a major impact on treatment of prostate cancer, but it could also be adapted to open up the possibility of precision medicine to patients with other types of cancer as well, ' Professor de Bono concluded.
The first genes linked to Tourette's syndrome have been identified in the biggest study of the disorder to date.
An international team of researchers scanned the genomes of nearly 6500 people and identified two genes which significantly raise the risk of developing the syndrome.
'We know that Tourette syndrome runs in families, but over the course of the last 25 years it’s been incredibly difficult to identify any genes definitively,' said Dr Jeremiah Scharf of Massachusetts General Hospital and co-leader of the research effort to the Boston Herald. 'This is really setting the stage for how this might be treated in the future.'
Tourette's syndrome is a neurological disorder characterised by involuntary movements and verbal outbursts, which affects around one in 100 people. Multiple genes contribute to the development of the disorder but these can differ between individuals, many of whom frequently exhibit other neurological disorders including attention deficit disorder and obsessive compulsive disorder. These factors have made it difficult to identify genes specifically associated with the development of Tourette's syndrome.
The study, published in Neuron, was conducted by 57 researchers from 11 countries, who analysed the genomes of 2434 people with Tourette's syndrome and of 4093 healthy controls. Instead of looking for a mutation in a specific gene, the scientists looked for copy number variations, which are repeats of sections of DNA.
'These variations may involve a large part of the DNA sequence and may even include whole genes. We have only very recently begun to understand how copy number variation may relate to disease,' said Dr Peristera Paschou of Purdue University, co-leader of the study.
They identified rare mutations in two genes, NRXN1 and CNTN6, as being associated with an increased risk of developing Tourette's syndrome. Approximately one percent of individuals with Tourette's syndrome were shown to carry one of these mutations.
'While [one percent] may sound like a small number, for a complex trait like Tourette, it’s significant,' said Dr Scharf.
These genes are involved in brain development and produce substances that enable brain cells to form connections. CNTN6, in particular, is associated with neuronal connections involved in the control of movement, and this is the first time copy number variants in this gene have been linked to a disease.
The scientists plan to pinpoint which brain cells are not functioning correctly in people with Tourette's syndrome using animal and cellular models to investigate these genes. They are also planning a larger study of 12,000 patients.
US scientists have identified gene mutations linked to Tourette's syndrome, a disorder characterised by involuntary tics and outbursts. The team, based at Yale University in Connecticut, found that some people with the condition have a mutated version of a gene called SLITRK1. The discovery should pave the way for a...
Several leading figures involved in the science, medicine and regulation of genetics and fertility have received awards in the Queen's Birthday Honours List. Foremost among them is Professor Sir John Sulston, who has been made a Companion of Honour. Professor Sulston's pioneering work on the development and genetics of nematode worms earned him a Nobel Prize and he went on to play a central role in the Human Genome Project, leading the UK's participation and founding the Wellcome Trust Sanger Institute.
GBEs were awarded to Professor Sir David Weatherall and Professor Sir Michael Rawlins. Professor Weatherall is a haematologist and genetics researcher who established the UK's first Institute of Molecular Medicine (at the University of Oxford), and who has played a leading role in the World Health Organisation's work on genomics. Professor Rawlins is a physician and pharmacologist who was the founding chair of the National Institute of Clinical Excellence (now the National Institute for Health and Care Excellence - NICE), and who currently chairs both UK Biobank and the Medicines and Healthcare Products Regulatory Agency.
A CBE was awarded to Sally Cheshire, who chairs the UK's fertility regulator - the Human Fertilisation and Embryology Authority (HFEA) - and who is also chair of Health Education England (North). An OBE was awarded to Emily Jackson, Professor of Law at the London School of Economics and Political Science, who was previously Deputy Chair of the HFEA and who has served in many other biomedical and public bodies and their ethics committees.
OBEs were also awarded to Professor Graeme Black (strategic director of the Manchester Centre for Genomic Medicine), Professor Erica Haimes (founding executive director of the Policy, Ethics and Life Sciences Research Centre at Newcastle University) and Jacquie Westwood (director of the UK Genetic Testing Network). An MBE was awarded to Dr Rachel Butler (head of the All Wales Genetic Laboratory).
Patron of the Progress Educational Trust, Baroness Mary Warnock, has been awarded the highest honour in the New Year's Honours list 2017, having been made a Companion of Honour for her 'services to charity and children with special educational needs'...
New technologies, procedures, and developments in reproductive science such as egg freezing, mitochondrial donation and genome editing have occupied many column inches, as well as much public and academic discussion in recent years. However, as evidenced by the fervent response to an article by Professor Guido Pennings recently published in BioNews 900, the topic of gamete donation remains an area of interest and continued site of controversy.
The focus of many studies on donor conception, including those at the Centre for Family Research, has been to assess the psychological wellbeing and adjustment of donor conceived individuals. This includes examining family functioning, or intentions regarding disclosure. However, over the last six years and under the direction of Professor Susan Golombok, Dr Zadeh has undertaken a longitudinal study of solo mother families realised by sperm donation. In particular, her research has examined the way the media constructs and represents this group of women, and has explored the perspectives and experiences of mothers and children in families formed via sperm donation.
In her lecture, Dr Zadeh reflexively drew on the findings and perceived 'issues' borne out of the data collection in the first phase of the research (2011-2014) when situating her new line of enquiry. Presenting the audience with an image of a drawing task from the first phase of her research, Dr Zadeh explained that the child had been asked to fill in a family map placing himself in the centre, and to draw those he felt closest to in the nearest concentric circles, working outwards. She showed how the child had represented their mother and other close family members, but had also clearly presented another differently shaped and oriented figure in an additional ring: the donor. The child completing the family map was four years of age, which Dr Zadeh noted was far younger than the seven years of age at which most studies suggested a child is able to comprehend the role of the donor. Dr Zadeh explained how this and other findings of the first phase of the research led her to look more holistically in the second phase, at how mothers and children in solo mother families think and feel about the sperm donors responsible for their family creation; specifically, examining how those in middle childhood think and feel about their families, their donor conception, and the donor.
Following interviews with 19 children aged between seven and 13, Dr Zadeh identified four different ways in which the donor was perceived: as a stranger (42 percent), as a biological father (21 percent), as a biological and social parent (16 percent) or ambivalently (21 percent). Given the variation identified in donor perceptions within the sample, Dr Zadeh also sought to explore how the perceptions of the donor might relate to patterns of attachment to the primary carer. Similar to studies examining adolescents (Slutsky et al, 2016), Dr Zadeh identified that children who had more secure and positive relationships with their mother also had more positive perceptions of the donor, whereas those with less secure attachments were more likely to hold negative perceptions (Zadeh, 2017).
In her exploration of how mothers communicated to their children about the donor, Dr Zadeh reported no linear relationship between how mothers said they were representing the donor with how children perceived and discussed the donor in interviews. Thus, whilst informed by a small sample, Dr Zadeh's work suggests that the quality of the mother-child relationship may more significantly affect a child's perception of the donor than a mother's representation of the donor. Dr Zadeh concluded that those working with donor conceived families should consider the family context when advising parents about whether and what to tell a child about donor conception.
This session was part of an ongoing seminar series run by the Centre for Reproduction Research.
05 June 2017 - by Professor Vardit Ravitsky, Dr Juliet Guichon, Marie-Eve Lemoine, and Professor Michelle Giroux
In his commentary, Professor Guido Pennings argues there is no empirical evidence to support the assumption that it is in the best interests of children to know that they are donor conceived. We would like to add another layer to the critique, by focusing on the conceptual foundation underlying the right of donor-conceived people to know their genetic origins...
30 May 2017 - by Professor Eric Blyth, Dr Marilyn Crawshaw, Iolanda Rodino, and Dr Petra Thorn
Professor Guido Pennings' provocatively entitled BioNews commentary 'Donor children do not benefit from being told about their conception' purports to highlight the shortcomings of existing research supporting a pro-disclosure agenda and castigates counsellors and researchers who advocate parental disclosure...
For some years now, counsellors and psychologists have been spreading the message that it's in the best interest of children to know if they are donor conceived. However, my recent literature review has shown that there is in fact very little empirical evidence to support this position...
27 March 2017 - by Dr Petra Nordqvist and Hazel Burke
Until twelve years ago, most people donating eggs or sperm via a UK clinic would be anonymous. In the eyes of the law, this donation was a generous gift that was handed over without continuing responsibilities or ties for the donor. In fact, continued involvement of the donor was usually discouraged...
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