This film documents the Progress Educational Trust/Genomics England event 'What Next for Genomics? Providing Answers, Changing Lives, Transforming the NHS', which launched the Chief Medical Officer's report Generation Genome...
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 (defined as 81 percent or more per cycle) and 19 countries offer partial public funding (between one and 80 percent). The countries that provide partial or no public funding require substantial out-of-pocket payments from patients wishing to access treatment.
Over the last decade, more countries are providing public funding for assisted reproductive technologies (ART). Yet levels of funding have been reduced and patients are making more out-of-pocket payments. The number of cycles funded through public health services varies from country to country, from one cycle in Northern Ireland (see BioNews 922) to an unlimited number of cycles in Australia.
The European Society of Human Reproduction and Embryology (ESHRE) has looked at the issues of equity and access in cases of infertility. It concludes that fertility treatments should be at least partially reimbursed in relatively affluent countries, based on the impact of not being able to have a child on the quality of life of a person.
Equity and access in Ireland
Currently no public funding is available for fertility treatment in Ireland. Access to services is based on ability to pay, which openly discriminates against the less wealthy.
A draft of the Assisted Human Reproduction Bill was presented by Ireland's Minister for Health, Simon Harris, this month, with proposals of state funding for fertility treatment to follow by year-end (see BioNews 917)
The proposed legislation will not contain details of public financing for assisted reproductive services. However, a review of international funding of reproductive services by the Health Research Board, Ireland has been conducted at the request of the Minister for Health. This will guide decisions on accessibility in terms of public funding, clinical and social criteria.
Internationally, healthcare budgets are strained. Technological advances and expanding healthcare systems, as well as ageing populations and increasing prevalence of lifestyle related illnesses (such as obesity and diabetes), are leading to escalating costs.
The report recommends an overarching framework to optimise the contributions of each part of the healthcare system with the aim of optimising 'accountability, efficiency, governance and clinical care'. It emphasises the need to prioritise patient autonomy and equitable distribution of resources.
ESHRE argues that successful infertility treatment allows people to express their autonomy, by enabling their reproductive choices with the subsequent benefit of increased wellbeing and general health. Limiting access to treatment on the grounds of ability to pay is discriminatory and unacceptable if procreation is considered part of fundamental health.
An ESHRE taskforce has suggested that policymakers introduce regulation to set costs for fertility treatment cycles. Variability in the cost of IVF cycles is seen in England where different CCGs commission services from different clinics, contributing to a fertility service-funding crisis (see Bionews 913).
Healthcare rationing in the area of assisted reproduction is complex, not least because reproductive medicine does not lend itself to standard cost-effectiveness analysis in assessment of value. It is difficult to place a value on the generation of a human life, and on the improvement of the quality of life and general wellbeing of the parents.
Joseph Schenker, professor of obstetrics and gynaecology at the Hebrew University of Jerusalem, has a particular interest in the ethical aspects of reproduction and gynaecological medicine and works with the ethical committee of The International Federation of Fertility Societies.
In his book, 'Ethical Dilemmas in Assisted Reproductive Technology', he contends that different funding arrangements in countries '… Illustrate the intrinsic relationship between sociocultural and moral norms and the allocation of healthcare resources to ART treatment', and that 'Funding arrangements illustrate society's sensitivity to aspects of ethical and distributive justice with regard to ART.'
Schenker advocates single embryo transfer as the gold standard. He gives examples of Australia, Belgium and Sweden as countries achieving good standards of clinical practice, using single embryo transfer against a backdrop of public funding for assisted reproduction. He emphasises that policymakers need to be aware that inequity of access based on ability to pay impacts clinical management of women and babies' clinical outcomes.
There is a wealth of international funding data available from Ireland's Health Research Board's evidence review, 'Assisted reproductive technologies: International approaches to public funding mechanisms and criteria'.
This comprehensive review concludes that 'national policies are a hybrid of political, cultural and economic pressure combined with clinical evidence leading to a publicly acceptable or pragmatic approach to funding assisted reproductive technologies in each individual country examined'.
A regulated reproductive service in Ireland is long overdue. Maybe the extra time taken to reach this point will benefit the service in the long run, in that its future public funding structure can be informed by international experience as documented by HRB (Human Research Board) and ESHRE recommendations. These recommendations include at least partial public funding in relatively affluent countries, a funding structure that can enable efficient, safe and equitable treatments, and setting a fixed number of cycles for individuals and couples who meet the required clinical and social criteria. ESHRE also highlights that practitioners have an obligation to reduce the costs of treatment as far as is practical.
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...
Sleep duration is associated with sperm integrity, according to a recent study in China.
Researchers analysed sperm and sleep duration in 796 male volunteers from local colleges between 2013 to 2015.
'This is new information after our previous finding that sleep duration has an inverse U-shaped association with semen volume and total sperm count,' said Dr Jia Cao of Third Military Medical University (TMMU) in Chongqing, China, and co-author of the study.
Previous research in 2016 had shown a relationship between sleep duration and sperm count and semen volume, which were highest in volunteers that had between 7 – 7.5 hours of sleep per day. Participants who had longer or shorter sleep showed lower count and semen volume.
The latest study from TMMU used the same population of volunteers to observe the relationship between high DNA stainability (HDS) in sperm and sleep duration. HDS is used as an indicator for the maturity of sperm chromatin; a high HDS index indicates immature chromatin in sperm, which has previously been linked to low motility.
Volunteers answered a questionnaire on sleep duration of volunteers and provided semen samples.
HDS was highest in volunteers that had between 7 – 7.5 hours of sleep per day, meaning they had the highest proportion of chromatin-immature sperm. But volunteers who had over 9 hours of sleep, or 6.5 hours or less, showed a decrease in HDS of nearly 41 percent and 30.3 percent, respectively.
The researchers say their findings highlight the complex relationship between sleep duration and male reproductive health, and further research is needed to explore this relationship.
A ruling by the Supreme Court in Georgia, USA, has stated a child born following IVF has no legal father, potentially setting a precedent for other similar cases in the future.
The ruling comes after a three-year legal case between Dr Jocelyn Vanterpool and David Patton, which started in January 2014 when Patton filed for a divorce.
Despite the divorce, both parties agreed to enter into an agreement to allow Dr Vanterpool to undergo another round of IVF treatment following the couple's two previous attempts and three miscarriages. While Dr Vanterpool has said she did not want to receive child support from Patton, she claims that it was agreed that Patton would be listed as the father, in order for the children to receive health insurance.
In November 2014, Dr Vanterpool travelled to the Czech Republic to undergo IVF using a donor egg and donor sperm.
Four days later, the final judgment on the divorce was entered in the courts but it did not mention children as, at the time, it was not known that Dr Vanterpool was pregnant. Patton has subsequently refused to assist Dr Vanterpool and her daughter, who was born in June 2015 alongside a twin brother who died a few months later.
Dr Vanterpool therefore requested that the Superior Court set aside the divorce decree in an effort to include her daughter in the agreement. However, the motion was denied, leading her to file a paternity action against Patton, stating that he created an 'irrebuttable presumption of paternity' by signing the consent papers in front of a notary public.
As a result of her filed paternity action, the Superior Court ruled that Patton was legally the father. However, Patton appealed the finding, taking the case to the Supreme Court - the state's highest court.
Patton won leave to appeal the decision and in October 2017 the Supreme Court of Georgia stated Patton is not in fact the legal father, citing a law from 1964 which predates the invention of IVF.
In her written opinion, Justice Carol Hunstein wrote: '[the 1964 law] creates an 'irrebuttable presumption' of legitimacy with respect to "[all] children born within wedlock or within the usual period of gestation thereafter who [were] conceived by means of artificial insemination."...This appeal presents the question of whether that irrebuttable presumption applies to children so conceived by means of IVF. We conclude that it does not and reverse the judgment of the Superior Court.'
Dr Vanterpool is now calling for the law to be updated so that all forms of artificial conception, including IVF, are included, stating: 'Artificial insemination is just a simpler version of reproductive technology. It has evolved tremendously. So that advancement should be included - it's not something we should ignore.'
A surrogate from Queensland, Australia has had her parental rights removed after a judge decided it was in the baby's best interests.
Relations between the intended parents and the surrogate deteriorated during the pregnancy to such an extent that the surrogate threatened to have a termination. In the Family Court proceedings, it was claimed that the surrogate told her counsellor that she regretted the pregnancy and had thought 'of using a coat hanger to induce abortion'.
The disputes between the parties were mainly financial. The intended parents (who are the child's biological parents) claimed that the surrogate was using the unborn baby to 'extort money' and that she had complained to her counsellor that 'other surrogates are showered with gifts'. The surrogate, who is a relative of one of the couple, claimed that they were late with some agreed payments, and that other payments failed to arrive.
Commercial surrogacy is illegal in Queensland, but intended parents can pay a surrogate's 'reasonable expenses'. Surrogacy agreements are not legally binding: under Queensland law the birth mother is always the legal parent of the child. A Parentage Order needs to be made by a Court to transfer parental rights and responsibilities to the intended parents, and until this is issued either party may back out.
In his judgment, Justice Peter Tree said that the surrogate's erratic behaviour and desire to punish the intended parents led him to conclude that it was in the child's best interest for the intended parents to have shared parental responsibility, with sole responsibility 'for [his] daily care, welfare and development.'
Documents submitted to the court showed that the surrogate had instructed her solicitors to write to the couple two weeks before the birth in a way that 'implicitly threatened on behalf of the surrogate that she would neither hand over the child to the genetic parents after it was born, nor consent to a parenting order being made in their favour'.
The baby was born in April 2016 and taken to live with the intended parents. In August 2016 the surrogate's solicitors sought payment of $21,351.59 from the intended parents in order 'to move the matter to a parentage order.'
A surrogacy report compiled for the court case quoted the surrogate as saying 'even now I want to have [the child] back and put him up for adoption. [The intended parents'] behaviour has been really disgusting.' The surrogate also sent a text message to the report writer stating that she wanted shared custody of her legal son, and that she wanted to put him up for adoption.
A surrogate has refused to give her consent for the parents of twins to become the children's legal parents, even though she and her husband are not seeking any active involvement in the children's upbringing...
A parliamentary inquiry into surrogacy laws in Australia has just reported its recommendations, but they don't go far enough and the country is likely to remain the world's largest exporters of intended parents...
The US Food and Drug Administration (FDA) have approved the world's second gene therapy to target blood cancer.
The therapy, Yescarta, is intended for adult patients with large B-cell lymphoma for whom the conventional types of treatment have failed.
'Today marks another milestone in the development of a whole new scientific paradigm for the treatment of serious diseases,' said FDA commissioner Scott Gottlieb. 'Gene therapy has gone from being a promising concept to a practical solution to deadly and largely untreatable forms of cancer.'
Large B-cell lymphoma is the most common form of non-Hodgkin's lymphoma, which account for four percent of cancers in the US. Currently, up to half of all patients with large B-cell lymphoma relapse or become resistant to treatments, which may include chemotherapy and stem cell transplants.
The new gene therapy, Yescarta, is a 'living drug' made from the patient's own immune cells. Like the first gene therapy for blood cancer, Kymriah (see BioNews 916), creating Yescarta requires extracting the patient's T-cells and modifying them to include a gene coding for chimeric antigen receptor (CAR). The so-called CAR-T cells are transfused back into the patient where they are better able to target and destroy cancer cells.
The drug was originally developed at the National Cancer Institute by a team led by Dr Steven Rosenberg. Yescarta was acquired by Kite Pharma in 2012, which was bought by pharma giant Gilead in August.
The FDA reported that 100 patients treated with Yescarta had a 51 percent complete remission rate in a multicentre clinical trial.
However, like other CAR-T therapies (see BioNews 917), the treatment carries the risk of life-threatening side effects, including high fever, low blood pressure, lung congestion and neurological problems. As a result the FDA requires hospitals and clinics to have special certification to provide the therapy.
'We will soon release a comprehensive policy to address how we plan to support the development of cell-based regenerative medicine. That policy will also clarify how we will apply our expedited programs to breakthrough products that use CAR-T cells and other gene therapies,' said Gottlieb.
The New York Times reported the treatment takes about 17 days overall to be developed and available for a patient.
'I believe this treatment approach brings hope to many patients, but one thing to consider is cost,' said Dr Michaela Almgren of the University of South Carolina College of Pharmacy.
Gilead have priced Yescarta at $373,000 for a one-time dose.
Researchers from the Wellcome Trust Sanger Institute developed a novel evolution-based method to assess how many of the thousands of mutations found in cancer cells are necessary to drive cancer development.
'We have addressed a long-standing question in cancer research that has been debated since the 1950s: how many mutations are needed for a normal cell to turn into a cancer cell? The answer is – a small handful,' explained Dr Peter Campbell of the Wellcome Trust Sanger Institute, and lead author of the study.
The idea behind the study, published in Cell, was that cancer cells are subject to evolutionary pressures, including positive selection. This means that mutations providing an advantage for the survival of the cancer cell should be found more often in tumours than 'neutral' mutations, which do not influence the cancer cells' survival.
In the study, the researchers analysed mutations in over 7600 tumours from 29 different types of cancers. They found that the number of so-called 'driver mutations' that lead to the development of a cancerous cell varied widely between different types of cancer.
Nearly all coding mutations found in cancer cells – around 99 percent - were actually harmless and can be tolerated by the cell without affecting its survival. Yet just a few specific mutations could drive cancer.
'For example, about four mutations per patient on average drive liver cancers, whereas colorectal cancers typically require 10 or so driver mutations,' said Dr Campbell.
In addition to this, around half of the identified driver mutations were found in genes that had not previously been implicated in cancer development, highlighting the need for wider research into the genetic basis of cancer.
The researchers hope their findings may lead to the development of a more personalised approach to cancer treatment in the future, depending on which mutations are present in the patient’s tumour.
Speaking to the BBC, Dr Nicholas McGranahan from Cancer Research UK and UCL Cancer Institute called the approach 'elegant', but cautioned: 'This study focuses on one part of cancer evolution, it can only give us insight into part of the puzzle. Other components such as how DNA is packaged into chromosomes are also key in how a tumour progresses and will need to be looked at to give us a clearer picture of how cancer evolves.'
Weight loss, education, giving up smoking, and being open to new experiences have all been linked to longer life.
By combining genetic, lifestyle and family data from 600,000 people, researchers have been able to calculate the effect of specific factors on life expectancy.
'You can look directly at the effect of weight, in isolation, on lifespan,' explained author Dr Peter Joshi of the University of Edinburgh's Usher Institute.
Certain lifestyle choices, such as smoking, are known to affect health and life expectancy. Furthermore, certain genes are known to affect lifestyle behaviours and choices - such as a mutation linked to feelings of increased appetite. By comparing people who have such known mutations to those who do not, researchers at the University of Edinburgh were able to investigate the impact of genetic traits which affect lifestyle and disease on overall lifespan.
The researchers used data from 25 separate population studies from Europe, including the UK BioBank, and from Australia and North America. They combined the participants’ genetic data with records of their parents’ lifespan. As each participant shares half their genetic information with each of their parents, they could assess the impact of different gene variants on life expectancy.
Their findings suggested every year spent in education could add an average of 11 months to people’s lifespan, and openness to new experience also increased life expectancy.
For every kilogram that a person was overweight, their lifespan was decreased by two months. The researchers also discovered a mutation that made smoking more appealing could cut lives by five months.
The researchers also discovered two new gene variants which affected lifespan, including one which increased levels of bad cholesterol in the blood and reduced lifespan by around eight months. The other, in a gene linked to the immune system, added around half a year to life expectancy.
‘We hope to discover novel genes affecting lifespan to give us new information about ageing and construct therapeutic interventions for ageing,’ said Dr Joshi to the BBC, saying that 20 percent of variation in lifespans may be inherited, but only one percent of such mutations have been found so far.
‘This is a large and important study, which confirms a lot of recent work in this area,’ said Professor David Melzer of University of Exeter Medical School, who was not involved in the study. He cautioned however that the analysis was mainly based on the lifespans of parents of middle-aged volunteers who took part in UK Biobank from 2006 to 2010.
‘Therefore the estimates of effect may not be relevant to our population now: an extra year of education then may have been much more important than it is now,' he said, also pointing out that people would not have had modern treatments for conditions such as high cholesterol.
A US study proclaiming the health benefits of stress management, gentle exercise and a 'plant-based' diet grabbed the attention of the world's media last week, but what was novel about the findings, and are the life-extending claims justified?...
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