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article.
14 October 2019 - by Jennifer Frosch
Developing post-traumatic stress disorder (PTSD) following traumatic events has a strong genetic component, a new study shows.
The large collaborative study, conducted by over 130 research institutions participating in the Psychiatric Genomics Consortium, has identified six distinct genetic loci that form a biological basis for PTSD similar to other psychiatric disorders.
 
'Based on these findings, we can say with certainty that there is just as much of a genetic component to PTSD risk as major depression and other mental illnesses,' said senior author Professor Karestan Koenen at Harvard University in Boston, Massachusetts.
'Our long-term goal is to develop tools that might help clinicians predict who is at greatest risk for PTSD and personalise their treatment approaches,' added the study's first author Dr Caroline Nievergelt from the University of California, San Diego.
Published in Nature Communications, it is the largest and most diverse genetic analysis of PTSD to date. Samples from more than 60 multi-ethnic groups of PTSD-affected and non-affected individuals from 12 countries were collected, including a UK BioBank dataset. Among the 200,000 subjects, over 30,000 PTSD cases were recorded, including a large fraction of people with European and African ancestry.
'Our study is distinguished by the fact that it's international and is highly diverse,' said Dr Nievergelt. 'There's greater representation here than in most studies to date.'
The study measured the effect of common genetic variants across the genome on someone's likelihood of developing PTSD. The heritability of PTSD was estimated between five and 20 percent, depending on sex, showing the disorder to be highly polygenic. Six genetic loci were strongly associated with PTSD risk and hint at the involvement of inflammatory and immune mechanisms. Furthermore, the genetic basis for PTSD significantly overlapped with 21 other disorders, behaviours and physical traits, including depression and schizophrenia.
Although not ready for clinical use, the authors used the findings to create a polygenic risk score for PTSD. This score is based on the effect of millions of genetic variations and could be used as a predictive measure for an individual's likelihood of developing PTSD after a traumatic event. The study concluded that larger studies with more diverse datasets are needed to develop more robust and accurate polygenic scores.
'This is a good start, but this needs to be a truly inclusive, large-scale, team-based scientific effort if we're going to continue to lay the groundwork for more effective interventions and treatments for the millions of people struggling with PTSD,' Professor Koenen said.

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14 October 2019 - by Bethany Muller
A €2.9m grant has been awarded to a consortium in the Netherlands to fund the development of an artificial womb to support premature babies.
'An artificial womb would be a gamechanger,' said one of the key researchers Professor Guid Oei at Eindhoven University of Technology. 'Our goal with the artificial womb is to help extremely premature babies get through the critical period of 24 to 28 weeks. With each day a fetus of 24 weeks continues to develop in an artificial womb, the chances of survival will increase.'
In 2017, researchers reported growing premature lambs in 'biobags' which supported their ongoing development (see BioNews 898). The consortium plans to make a significant advance on current technologies by creating an artificial womb that more closely resemble conditions in the womb, allowing premature babies to develop to term.
Professor Frans van de Vosse, project coordinator at Eindhoven University, explained: 'Premature babies are placed in a fluid-based environment, just like the natural womb... Oxygen and nutrients are provided via an umbilical cord using an artificial placenta. The system that makes this possible constantly monitors the baby's condition. Think of heart rate and oxygen supply, but also of brain and muscle activity. Smart computer models that simulate the baby's condition provide the doctor with immediate support in the decision-making process with regard to the artificial womb's settings.'
Over the next five years, further research and testing will be carried out to develop the prototype using 3D-printed replicas of human babies and sensors to recreate all aspects of the womb, even down to the maternal heartbeat. 'When they are in this environment, they just feel, and see, and smell, and hear the same sounds as when they are in the womb of the mother,' said Professor Oei.
Elizabeth Chloe Romanis, a lawyer at the University of Manchester who has explored the bioethics of artificial wombs,(see her comment piece in this week's BioNews) warned that the technology could raise questions.
'It is clear that the legal and ethical issues emerging from the technology must be talked about now, in advance of the artificial womb becoming a reality,' she told the Guardian.
Approximately one in 13 UK babies are born prematurely and globally over 1 million babies die each year as a consequence. Those that survive often suffer from organ complications such as chronic lung disease and have an increased risk of disability.
Click here to view SOURCES & REFERENCES and RELATED ARTICLES from the BIONEWS ARCHIVE or to leave a comment about this article.
Mini organs grown from tumours predict patient chemo response
14 October 2019 - by Dr Maria Botcharova
Structures grown from patient's tumour cells can help identify which patients will benefit from chemotherapy drugs, according to a new study.
Scientists at the Netherlands Cancer Institute were investigating the response of metastatic colorectal cancers to the chemotherapy drug irinotecan. Irinotecan can be lifesaving but causes severe side effects including hair loss, diarrhoea and fatigue, and not all patients derive any benefit. The researchers used organoids to predict which cancers would respond to the treatment.
'This means that organoids can help improve decision-making on the best treatment options,' said lead author Salo Ooft.
The researchers hypothesised that if the drug could kill cells in the organoid, this would be a good predictor of success in attacking cancer in the patient. They used cells biopsied from 61 patient tumours to grow the organoids in the lab and were successful in growing these 3D tissue cultures from 35 of the samples.   
After studying the response of the organoids to irinotecan, 80 percent of the predicted patient responses were correct. Importantly, they correctly predicted all the patients who would benefit from the drug.
'The latter is very important as you don't want to deny patients treatment that could have prolonged their life,' said Ooft.
The team's method for developing and screening organoids took only 21 days, compared with two to six months from earlier methodologies.
However, the technique had some limitations. The organoid technique was unsuccessful in predicting the patient's response to a combination therapy consisting of 5-fluorouracil and oxaliplatin. The team believes that this is because factors such as the patient's immune system play a role, which cannot be tested with an organoid.
Click here to view SOURCES & REFERENCES and RELATED ARTICLES from the BIONEWS ARCHIVE or to leave a comment about this article.

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Started by mensfe_admin - Last post by mensfe_admin
14 October 2019 - by Bethany Muller
A €2.9m grant has been awarded to a consortium in the Netherlands to fund the development of an artificial womb to support premature babies.
'An artificial womb would be a gamechanger,' said one of the key researchers Professor Guid Oei at Eindhoven University of Technology. 'Our goal with the artificial womb is to help extremely premature babies get through the critical period of 24 to 28 weeks. With each day a fetus of 24 weeks continues to develop in an artificial womb, the chances of survival will increase.'
In 2017, researchers reported growing premature lambs in 'biobags' which supported their ongoing development (see BioNews 898). The consortium plans to make a significant advance on current technologies by creating an artificial womb that more closely resemble conditions in the womb, allowing premature babies to develop to term.
Professor Frans van de Vosse, project coordinator at Eindhoven University, explained: 'Premature babies are placed in a fluid-based environment, just like the natural womb... Oxygen and nutrients are provided via an umbilical cord using an artificial placenta. The system that makes this possible constantly monitors the baby's condition. Think of heart rate and oxygen supply, but also of brain and muscle activity. Smart computer models that simulate the baby's condition provide the doctor with immediate support in the decision-making process with regard to the artificial womb's settings.'
Over the next five years, further research and testing will be carried out to develop the prototype using 3D-printed replicas of human babies and sensors to recreate all aspects of the womb, even down to the maternal heartbeat. 'When they are in this environment, they just feel, and see, and smell, and hear the same sounds as when they are in the womb of the mother,' said Professor Oei.
Elizabeth Chloe Romanis, a lawyer at the University of Manchester who has explored the bioethics of artificial wombs,(see her comment piece in this week's BioNews) warned that the technology could raise questions.
'It is clear that the legal and ethical issues emerging from the technology must be talked about now, in advance of the artificial womb becoming a reality,' she told the Guardian.
Approximately one in 13 UK babies are born prematurely and globally over 1 million babies die each year as a consequence. Those that survive often suffer from organ complications such as chronic lung disease and have an increased risk of disability.
Click here to view SOURCES & REFERENCES and RELATED ARTICLES from the BIONEWS ARCHIVE or to leave a comment about this article.
Mini organs grown from tumours predict patient chemo response
14 October 2019 - by Dr Maria Botcharova
Structures grown from patient's tumour cells can help identify which patients will benefit from chemotherapy drugs, according to a new study.
Scientists at the Netherlands Cancer Institute were investigating the response of metastatic colorectal cancers to the chemotherapy drug irinotecan. Irinotecan can be lifesaving but causes severe side effects including hair loss, diarrhoea and fatigue, and not all patients derive any benefit. The researchers used organoids to predict which cancers would respond to the treatment.
'This means that organoids can help improve decision-making on the best treatment options,' said lead author Salo Ooft.
The researchers hypothesised that if the drug could kill cells in the organoid, this would be a good predictor of success in attacking cancer in the patient. They used cells biopsied from 61 patient tumours to grow the organoids in the lab and were successful in growing these 3D tissue cultures from 35 of the samples.   
After studying the response of the organoids to irinotecan, 80 percent of the predicted patient responses were correct. Importantly, they correctly predicted all the patients who would benefit from the drug.
'The latter is very important as you don't want to deny patients treatment that could have prolonged their life,' said Ooft.
The team's method for developing and screening organoids took only 21 days, compared with two to six months from earlier methodologies.
However, the technique had some limitations. The organoid technique was unsuccessful in predicting the patient's response to a combination therapy consisting of 5-fluorouracil and oxaliplatin. The team believes that this is because factors such as the patient's immune system play a role, which cannot be tested with an organoid.
Click here to view SOURCES & REFERENCES and RELATED ARTICLES from the BIONEWS ARCHIVE or to leave a comment about this article.

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Started by mensfe_admin - Last post by mensfe_admin

14 October 2019 - by Jen Willows
A new study has shown that sperm quality – but not quantity – may be improved by an antioxidant related to the red pigment in tomatoes.
Lycopene is a powerful antioxidant naturally found in tomatoes. It has been previously linked to male fertility, but previous studies lacked a control group, making findings uncertain. Because lycopene is difficult for the human body to absorb, the researchers used the more bioavailable lactolycopene, which was specifically developed as a supplement.
The study was led by Allan Pacey, professor of andrology reproduction, and Dr Liz Williams, a specialist in human nutrition, both at the University of Sheffield and published in the European Journal of Nutrition.
'When we decoded the results, I nearly fell off my chair. The improvement in morphology - the size and shape of the sperm - was dramatic,' said Professor Pacey.
The study looked at sperm in 60 healthy men over 12 weeks. The volunteers, all aged between 19 and 30 were randomly assigned to receive either lactolycopene or a placebo – neither the volunteers nor researchers knew which were which.
The volunteers provided sperm samples at the beginning of the experiment, halfway through and at the end of the 12 weeks.
Analysis of the samples revealed that among the men who took lactolycopene the results did not show an increase in numbers of sperm. However, the proportion of sperm that were able to swim fast increased by 40 percent by and the proportion that were a healthy shape and size also increased significantly.
'The next step is to repeat the exercise in men with fertility problems and see if lactolycopene can increase sperm quality for those men and whether it helps couples conceive and avoid invasive fertility treatments,' said Dr Williams.
It is estimated that one in six UK couples are affected by subfertility, and that around 40 percent of these are due to problems with sperm production.
Professor Richard Sharpe from the University of Edinburgh's MRC Centre for Reproductive Health, welcomed the research, calling it a 'methodical small ray of sunshine' in a field where 'our understanding of the causes of poor semen quality (and consequent poor fertility) in men is lamentably bad' which 'explains why there are few if any treatments to offer affected men.'
Click here to view SOURCES & REFERENCES and RELATED ARTICLES from the BIONEWS ARCHIVE or to leave a comment about this article.
Rare genetic quirk twice as common as thought
14 October 2019 - by Laura Riggall
Inheriting two copies of a chromosome from a single parent is more common than previously thought, according to a new study.
The phenomenon, called uniparental disomy (UPD), occurs due to an error in meiosis, the process that forms eggs and sperm. Because of the error, the affected individual inherits both copies of a chromosome from one parent only. Documented cases of UPD are rare, with only around 3300 recorded in total worldwide.
Using a dataset of 4,400,363 participants from 23andMe and another of 431,094 UK BioBank participants, US researchers identified 675 instances of UPD. To determine how often UPD occurs in the general population, they also looked at the rate of UPD among trios of parents and children, finding 105 cases within 214,915 trios in the 23andMe dataset. This amounts to roughly one in every 2000 births, compared with a previous estimate of one in every 3500.
'So that's about twice as common as was previously thought,' lead author Dr Priyanka Nakka told Gizmodo.
Existing research has linked UPD to developmental disabilities and a greater risk of cancer. However, while the study found some association between the UPD of chromosome 22 and the risk of autism, it identified no significant associations with deleterious traits in the 23andMe database.
'Our work challenges the typical view that errors in recombination are strongly deleterious, showing that even in extreme cases where individuals are homozygous for an entire chromosome, those individuals can be, to the best of our knowledge, phenotypically normal and healthy,' wrote senior study author Dr Fah Sathirapongsasuti at 23andMe, and colleagues, in their paper.
'We found that a little surprising,' said Dr Nakka, who did the study while at Brown University in Providence, Rhode Island, and 23andMe. 'Because in the past, UPD is always been written about as this genetic phenomenon that can cause imprinting disorders or unmask deleterious mutations.'
To identify UPD in such large datasets, the researchers developed a machine-learning classifier that assessed the degree of homozygosity (possessing two identical alleles of at least one gene).
The classifier struggled, however, with data from populations with higher-than-average levels of homozygosity, such as Ashkenazi Jewish, Middle Eastern, and South Asian populations. This was acknowledged by Dr Nakka and her co-authors, who suggested that individuals who have so far signed up for 23andMe aren't completely representative of the general population.
Nevertheless, the study has provided a clearer picture of UPD. 'I was really excited to see this paper,' Dr Wendy Robinson, a medical geneticist at the University of British Columbia in Vancouver, Canada, who was not involved in the study, told The Atlantic. She had suspected that UPD occurs in healthy people more often than reported.
The study was published in the American Journal of Human Genetics.

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Started by mensfe_admin - Last post by mensfe_admin
14 October 2019 - by Elizabeth Chloe Romanis
This week, researchers based at the University of Technology in Eindhoven announced they had received Horizon 2020 funding to build their artificial womb prototype (see this week's news article). This follows the news, in 2017 (see BioNews 898) and again in 2019, of successful animal testing of artificial womb prototypes, named the Biobag and the EVE Platform, in the USA and Australia. This latest development towards the artificial womb improves the prospects of the technology coming to fruition. The race to develop the artificial womb is on!
Artificial womb technology is sought after as a means of circumventing the inherent limitations and problems of neonatal intensive care. Around one in 13 pregnancies in the UK are delivered prematurely, and a significant number of preterm babies require intensive care. The prospects for premature neonates have improved over the last few decades thanks to developments in mechanical ventilation and substances that help babies' lungs better receive oxygen. However, babies born at or below 24 weeks are still unlikely to survive, and those born before 26 weeks are at risk of serious long-term health problems.
Neonatal intensive care only supports babies that are born functionally mature enough to withstand ventilation, so intensive care appears to have reached a natural limit at 22 weeks. Before this point a fetus usually has not developed solid lungs, so they cannot be assisted. There are also common complications associated with the interventions given in intensive care – in particular damage to the babies' lungs from ventilation and infections from feeding tubes.
The artificial womb marks a shift in approach to treating preterms: away from intrusive attempts to provide mechanical assistance to a preterm struggling to sustain itself and towards attempting to support development by continuing gestation extra uterum. The devices being created endeavour to better mimic the environment of the uterus by sealing the preterm in amniotic fluid, administering essential nutrients through a cannula emulating an umbilical cord and using an oxygenator to assist the preterm in maintaining its own heartbeat. By providing the conditions for gestation, the preterm is able to continue growing and maturing as if the pregnancy had not ended.
It is thought that this approach could almost eliminate deaths due to prematurity (because they are not subject to the same constraints of lung maturity), and prevent the occurrence of the long-term health problems caused by common complications in neonatal intensive care. The artificial womb is also a welcome development to avoid parent(s) experiencing the devastation that often results from preterm birth. In addition, the technology could also save the lives (and health) of pregnant people by taking over gestation if pregnancy becomes dangerous.
In the future, artificial wombs could enable gestation to become a reproductive choice, by potentially allowing people to choose how long they want to be pregnant for. It might even come to be seen as an alternative fertility treatment, alongside uterus transplants and surrogacy, for persons unable to carry a full pregnancy. At this point these benefits are all speculative – but it is easy to see why scientists are so keen to develop this technology.
The Biobag team, based in the US, anticipate that their artificial womb device might be ready for human testing in just 5 years' time. The Eindhoven researchers suggest they might have a prototype ready for use in hospitals in the same time frame. With researchers working so quickly and with the potential consequences of the artificial womb so broad and unknown, we need to think carefully now about the legal and ethical implications of the technology in advance of its development. These problems and questions it raises are both intricate and wide-ranging.
For example, what kind of human entity is the subject of the artificial womb? It is more similar (in behaviour, features and the extent of its dependency) to a fetus than a newborn (that has to adapt to the external environment and take on some of the burden of sustaining itself). I have argued the subject of an artificial womb is a unique entity; we have never known a human entity undergoing the process of gestation extra uterum before. I've termed it a 'gestateling.' The law (at least in England and Wales) treats a fetus and a newborn very differently, so determining the recognition and legal protections that are, or should be, afforded to a gestateling, are complicated questions in need of an answer.
 
There are also other pressing issues related to the clinical translation of these devices from concept, design and animal experiments to a replacement for neonatal intensive care in clinics. How and when might it be ethical to test these devices on humans? Is it more ethical to test it on preterms so premature they have no chance of surviving in intensive care, or only those more mature that we know (based on clinical data in intensive care) to have some chance of survival? There are also uncertainties associated with the potential long-term consequences of being partially gestated by machine compared to a person.
What is most interesting about the recent announcements from Eindhoven, especially in comparison to the ongoing experiments in the USA and Australia, is the focus they seem to be placing on 'uterine experience' in developing their prototype. Professor Guid Oei and his team are not just interested in successfully emulating the processes involved in gestation, but also some of the relational aspects. Professor Oei emphasises that their artificial womb will not just be a 'plastic bag' but an environment in which the gestateling can 'feel, and see, and smell, and hear the same sounds as when they are in the womb…' Whether the relationship between a pregnant person and their fetus is even something that can be artificially replicated remains to be seen.
One thing that is clear, however, is that practical questions about a functioning and experimental artificial womb, once thought to be entirely hypothetical, are very deserving of our attention.

 16 
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Started by mensfe_admin - Last post by mensfe_admin
14 October 2019 - by Elizabeth Chloe Romanis
This week, researchers based at the University of Technology in Eindhoven announced they had received Horizon 2020 funding to build their artificial womb prototype (see this week's news article). This follows the news, in 2017 (see BioNews 898) and again in 2019, of successful animal testing of artificial womb prototypes, named the Biobag and the EVE Platform, in the USA and Australia. This latest development towards the artificial womb improves the prospects of the technology coming to fruition. The race to develop the artificial womb is on!
Artificial womb technology is sought after as a means of circumventing the inherent limitations and problems of neonatal intensive care. Around one in 13 pregnancies in the UK are delivered prematurely, and a significant number of preterm babies require intensive care. The prospects for premature neonates have improved over the last few decades thanks to developments in mechanical ventilation and substances that help babies' lungs better receive oxygen. However, babies born at or below 24 weeks are still unlikely to survive, and those born before 26 weeks are at risk of serious long-term health problems.
Neonatal intensive care only supports babies that are born functionally mature enough to withstand ventilation, so intensive care appears to have reached a natural limit at 22 weeks. Before this point a fetus usually has not developed solid lungs, so they cannot be assisted. There are also common complications associated with the interventions given in intensive care – in particular damage to the babies' lungs from ventilation and infections from feeding tubes.
The artificial womb marks a shift in approach to treating preterms: away from intrusive attempts to provide mechanical assistance to a preterm struggling to sustain itself and towards attempting to support development by continuing gestation extra uterum. The devices being created endeavour to better mimic the environment of the uterus by sealing the preterm in amniotic fluid, administering essential nutrients through a cannula emulating an umbilical cord and using an oxygenator to assist the preterm in maintaining its own heartbeat. By providing the conditions for gestation, the preterm is able to continue growing and maturing as if the pregnancy had not ended.
It is thought that this approach could almost eliminate deaths due to prematurity (because they are not subject to the same constraints of lung maturity), and prevent the occurrence of the long-term health problems caused by common complications in neonatal intensive care. The artificial womb is also a welcome development to avoid parent(s) experiencing the devastation that often results from preterm birth. In addition, the technology could also save the lives (and health) of pregnant people by taking over gestation if pregnancy becomes dangerous.
In the future, artificial wombs could enable gestation to become a reproductive choice, by potentially allowing people to choose how long they want to be pregnant for. It might even come to be seen as an alternative fertility treatment, alongside uterus transplants and surrogacy, for persons unable to carry a full pregnancy. At this point these benefits are all speculative – but it is easy to see why scientists are so keen to develop this technology.
The Biobag team, based in the US, anticipate that their artificial womb device might be ready for human testing in just 5 years' time. The Eindhoven researchers suggest they might have a prototype ready for use in hospitals in the same time frame. With researchers working so quickly and with the potential consequences of the artificial womb so broad and unknown, we need to think carefully now about the legal and ethical implications of the technology in advance of its development. These problems and questions it raises are both intricate and wide-ranging.
For example, what kind of human entity is the subject of the artificial womb? It is more similar (in behaviour, features and the extent of its dependency) to a fetus than a newborn (that has to adapt to the external environment and take on some of the burden of sustaining itself). I have argued the subject of an artificial womb is a unique entity; we have never known a human entity undergoing the process of gestation extra uterum before. I've termed it a 'gestateling.' The law (at least in England and Wales) treats a fetus and a newborn very differently, so determining the recognition and legal protections that are, or should be, afforded to a gestateling, are complicated questions in need of an answer.
 
There are also other pressing issues related to the clinical translation of these devices from concept, design and animal experiments to a replacement for neonatal intensive care in clinics. How and when might it be ethical to test these devices on humans? Is it more ethical to test it on preterms so premature they have no chance of surviving in intensive care, or only those more mature that we know (based on clinical data in intensive care) to have some chance of survival? There are also uncertainties associated with the potential long-term consequences of being partially gestated by machine compared to a person.
What is most interesting about the recent announcements from Eindhoven, especially in comparison to the ongoing experiments in the USA and Australia, is the focus they seem to be placing on 'uterine experience' in developing their prototype. Professor Guid Oei and his team are not just interested in successfully emulating the processes involved in gestation, but also some of the relational aspects. Professor Oei emphasises that their artificial womb will not just be a 'plastic bag' but an environment in which the gestateling can 'feel, and see, and smell, and hear the same sounds as when they are in the womb…' Whether the relationship between a pregnant person and their fetus is even something that can be artificially replicated remains to be seen.
One thing that is clear, however, is that practical questions about a functioning and experimental artificial womb, once thought to be entirely hypothetical, are very deserving of our attention.

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Started by mensfe_admin - Last post by mensfe_admin
MENSFE WILL NOT GIVE A DIAGNOSIS FOR A MEDICAL CONDITION

WE STRONGLY RECOMEND THAT ANYONE SUFFERING FROM THE ABOVE PLEASE CONTACT YOUR GP.

AND - OR REFER TO A CLINICAL SPECIALIST.


GOOD LOOK

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12 November 2018 - by Dr Geeta Nargund, Professor Stuart Campbell, Dr Svend Lindenberg, Dr Pasquale Patrizio, Professor Rene Frydman
Over the last ten years, the International Society for Mild Approaches in Assisted Reproduction (ISMAAR) has campaigned worldwide to put the welfare of women at the heart of fertility treatment.
IVF has been transformed over the last 40 years. One of the most startling changes is that a treatment which was originally intended to address the problem of tubal infertility is now regularly used to treat women who are both healthy and fertile. From male factor infertility, to elective egg freezing or same-sex couples wishing to start a family, the contexts of our practice have been irreversibly changed. These should rightly be regarded as advances, but with every step forward, we have an increasing responsibility to ensure that no healthy woman is made ill from fertility treatment.
Women undergoing IVF can experience a wide range of side effects, the most serious of which is Ovarian Hyperstimulation Syndrome (OHSS). In its mild form this affects as many as one third of cycles, with 3.1 to 8 percent being moderately or severely affected, according to the Royal College of Obstetricians and Gynaecologists.
Research has shown that if more than 15 eggs are collected during one cycle, women are at increased risk of OHSS without any increase in IVF success rates. The data from the Human Fertilisation and Embryology Authority (HFEA), released in response to parliamentary questions by MP Siobhain McDonagh between April to June 2018, revealed that between 2013 and 2017, 20 or more eggs were collected in 21,244 cycles, approximately 6.5 percent of total cycles in that period. Further, in 1860 cycles, more than 30 eggs and in some cases more than 50 eggs were collected in a single cycle.
At the same time, NHS data has recorded 836 emergency hospital admissions as a result of OHSS in a single year; a stark difference to the 60 cases reported directly to the HFEA. The true picture about hospital admissions can only be obtained if we link the HFEA registry with that of the NHS registry as is done in Scandinavia, Australia, USA and many other countries.
OHSS is often presented to women as a 'no pain, no gain' reality, yet it must be at least presented to patients that OHSS is a largely preventable condition and that the mild stimulation IVF treatment strategy delivers equivalent success rates per cycle while significantly reducing the risk of OHSS.
The aim of conventional IVF is to stimulate the ovaries to maximise the egg numbers, while in mild IVF, the aim is to obtain a mild response that will produce an adequate number of quality eggs to produce equivalent success rates. If the ideal number of eggs per live birth with conventional IVF in women with normal ovarian reserve is 15, with mild IVF it is about half that number and can be as few as five. The battle lines are drawn squarely between quantity and quality.
Statements that there is 'little doubt' that the conventional approach gives a woman a 'significantly better chance' must be challenged (see BioNews 973). The classic paper by Valerie Baker and colleagues who studied over 650,000 consecutive cycles from the American Society of Reproductive Medicine database demonstrated that there was an inverse relationship between the stimulating dose of follicle stimulating hormone and live birth throughout all age groups, including among women under the age of 35.
There are numerous papers confirming that mild IVF gives comparable success rates in terms of live births as conventional IVF. At present there is no large randomised study directly comparing the two methods, but that does not justify defenestrating the significant body of evidence demonstrating equivalence of success rates. This is not to mention the significant benefits that mild IVF brings in relation to health outcomes for women and children, and reduction in the burden of both treatment and the total cost.
The number of eggs collected per cycle in the UK is increasing annually with the risk of OHSS contained by the use of agonist trigger and 'freeze-all embryos' in the case of high oestradiol levels. While this strategy is an important emergency tool in reducing OHSS complications, it is not prevention and it should not be taken as a licence to ignore the dangers of ovarian stimulation, nor subjecting women to the concomitant side effects. True prevention is not placing women at OHSS risk in the first place by avoiding aggressive protocols of ovarian stimulation.
It must always be remembered that the protection of the welfare of women in IVF is a wider concept beyond OHSS prevention. There are additional treatments, such as the administration of intravenous immunology drugs, which may have potentially harmful effects and are in desperate need of more oversight. At present, lack of data collection and database linkage restrictions are obscuring our ability to determine the size of problem.
Instead of large-scale, rigorous analysis, we are often given bland reassurances that all is well with the state of IVF in the UK. Sensible proposals to protect the welfare of women are currently being put forward in Parliament by McDonagh and should be supported whatever one's view on the best stimulation strategy.
We surely all agree that the aim of IVF treatment should be to achieve a singleton, healthy, full term, normal weight baby, without putting a woman's health at risk in the short or long term. With the additional oversight and data, we will be able to speak confidently as one voice that we are protecting the welfare of women during IVF treatment.

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Bring on the bots: 22 October 2018 - by Tara Schmidlen and Amy Curry Sturm
It's 2018, and Alexa has become a common household name. The iPhone has turned 10 and roughly two-thirds of adults worldwide own a smartphone. About 84 percent of the global population lives in an area where mobile broadband access is available. At the same time, genetic testing has become more affordable and accessible to consumers, with direct-to-consumer genetic testing pioneer, 23andMe, now boasting five million users in over 50 countries.
As the interest in and demand for genetic testing has increased, the demand for genetic counsellors – experts trained to help patients understand and make use of genetic information – is increasing. There are currently over 4800 certified genetic counsellors in North America. Clear Genetics, a healthcare technology company based in San Francisco, has collaborated with genetic counsellors working in a variety of patient-care settings to develop a chatbot named GIA (Genetic Information Assistant). GIA is a clinical-grade chatbot who assists patients pursuing genetic counselling, risk assessment and testing.
For those of you wondering what a bot, or chatbot, is – these are software-based simulated conversation tools. Chatbots use artificial intelligence and natural language processing to answer simple questions, increase and maintain consumer engagement, promote services, and provide convenient, easy access between consumers and service providers. Bots often handle repetitive questions from users, such as, 'Is my flight on time?' In the field of genetics, they can respond to questions like, 'Should my children also be tested?'
One American health entity using chatbot technology is Geisinger, a non-profit integrated health system serving over three million residents in Pennsylvania and southern New Jersey. Geisinger and Clear Genetics have collaborated to develop chatbots for communication with patients enrolled in the MyCode Community Health Initiative. MyCode is a large research biobank returning genetic test results for genes known to be associated with an increased risk for treatable and preventable heritable heart diseases and cancers.
Over 210,000 Geisinger patients are enrolled in MyCode, with at least 2 percent expected to have a disease-causing genetic variant for which there are potential treatment options. With so many patients enrolled, automation of some repetitive, scriptable communications would free up staff members and genetic counsellors for tasks that require human interaction.
To recruit patients into the MyCode study, Geisinger and Clear Genetics developed a consent chatbot that walks patients through components of the consent form, allowing them to opt to receive more or less detail on key topics (goals, benefits, risks, and so on). The tool is compliant with the Health Insurance Portability and Accountability Act 1996, and can be used on any mobile device. It is designed to record the decision (consent, considering, decline) in the patient's electronic health record. Geisinger patients who tested the consent chatbot in focus groups reacted positively, favoring the more informative and customisable chatbot experience to an in-person approach.
In addition to the consent chatbot, a patient 'follow-up' chatbot was developed to remind MyCode participants of suggested actions after they got their results. Via the follow-up chatbot, MyCode participants could indicate whether they had received a result packet, gathered their family history data, met with a provider to review results, and shared results with relatives. Patients could also request a genetic counselling visit and type in questions.
To help patients communicate their genetic test results with at-risk family members, a family sharing tool was developed as an easy mechanism to electronically share results and inform family members of the importance of genetic counselling and testing. The tool allows the patient to send their relatives a link to a 'cascade' genetic counselling chatbot by text message, email or Facebook messenger. The cascade chatbot describes the patient's result, associated disease risks and recommended management.
The patient's at-risk relative can request a genetic counselling visit via the chatbot and ask questions. Geisinger patients who have interacted with the family sharing tool and cascade chatbot report that they have enjoyed the ability to preview what their relative will see and welcome a tool that 'has the detailed information' and 'answers that wouldn't be on the tip of the tongue' when talking with family members about genetic test results.
Beyond the consent, follow up and cascade use cases described here, a chatbot like Clear Genetics' GIA, can free up genetic counsellors by automating many other routine tasks, such as delivering negative results and providing standard pre-test education.
Sceptics may lament that 'the bots are taking over'. But the goal is not to replace genetic counsellors with chatbots. Rather, the goal is to delegate important tasks that are repetitive, time-consuming and scriptable to a chatbot, like GIA, to leave genetic counsellors more time for more valuable and highly skilled patient care. More counsellor time will lead to greater accessibility of genetic counselling services. To that we enthusiastically say, bring on the bots.
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Started by mensfe_admin - Last post by mensfe_admin
24 September 2018 - by Rachel Siden
The UK's Human Fertilisation and Embryology Authority (HFEA) is urging companies that offer direct-to-consumer DNA testing to provide more comprehensive warnings to customers.
A recent paper presented to the HFEA board, oulined how egg and sperm donors, as well as donor-conceived people, could be impacted by direct-to-consumer DNA testing and 'matching' services which offer to connect customers who are genetically related to each other. DNA testing services could reveal someone's unknown donor-conceived status, or uncover the identity of a donor who believed they had anonymity.
'Donors who think the anonymity can be protected are suddenly discovering they can't,' said Nina Barnsley, director of the Donor Conception Network. 'Even if you don't upload your DNA anywhere, you can still be found. It's a new world and we are all playing catch-up,' she told The Guardian newspaper.
While popular DNA testing companies such as 23andMe, Ancestry.com, and DNA.com can only 'match' users within their databases, customers could still use a single match to track down other relatives through social media or birth and marriage records. And while these companies may disclose that unexpected genetic information may be discovered 'in the small print', the HFEA paper argues that customers may not be adequately warned of the risks, nor offered any support.
'We found no DNA testing and matching services that mention that a need for professional emotional support may arise from relatedness matching, or via further inference from matching,' stated the HFEA paper. 'No service offers professional emotional support to users, nor signposts to other available support.'
 
While the HFEA does not have the authority to force companies to provide warnings, the HFEA paper outlines a response plan that includes raising awareness of these risks and providing information and support through the HFEA website and clinics, and reaching out to DNA testing companies to have a dialogue about why greater warning should be provided on their websites.
HFEA Chair Sally Cheshire has pledged that the websites will be contacted and that these issues will be discussed with the UK's Department of Health, The Guardian reported.
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Prenatal tests are misused for sex-selection in the UK
24 September 2018 - by Rikita Patel
Prenatal tests offered by private UK clinics are misused for sex-selection and could lead to abortions of female fetuses, according to a BBC investigation.
Non-invasive prenatal testing (NIPT) involves screening fetal DNA in the mother's blood to identify genetic abnormalities, such as Down's syndrome. The technique also enables mothers to find out their baby's sex as early as nine to 10 weeks into pregnancy. However, when the test is implemented within the NHS  next month, patients will not be provided with this information.
In contrast, private clinics are revealing gender information from NIPT to expectant mothers. An investigation by BBC Two's Victoria Derbyshire programme has found that thousands of pregnant women are using online forums to discuss sex-selection through NIPT and their concerns about having a baby girl. Further, it found that clinics in Slough, Berkshire, were openly advertising gender determination testing.
Due to concerns that pregnancies could be aborted based on preference for a male child, the Labour Party has called for a ban on parents being told the sex of their baby.
Naz Shah, Labour MP for Bradford and shadow minister for women and equalities, told the programme that 'cultural practices in some communities, like the South Asian community, have a preference for boys' which is 'forcing them to adopt methods such as NIPT to live up to expectations of family members'.
In UK law, the sex of the baby is not one of the permitted grounds for abortion. However, if a woman is likely to face violence or abuse as a result of giving birth to a baby girl, a termination in the first 24 weeks could be lawful, as the Abortion Act states, if 'continuance of the pregnancy would involve risk, greater than if the pregnancy were terminated, of injury to the physical or mental health of the pregnant woman'. The act allows that 'account may be taken of the pregnant woman’s actual or reasonably foreseeable environment'.
Speaking to the BBC, Tom Shakespeare, professor of disability research at Norwich Medical School and chair of the Nuffield Council on Bioethics' NIPT working group, said: 'The desire for sex-selection is a major driver of private-sector testing.
'But countries like China and India have recognised the problem of sex-selective abortion and so it's very difficult to get this information – in India it is illegal.'
If the UK permits the practice of releasing this information, nationals from those countries may travel to the UK for medical tourism, Professor Shakespeare said.
A Department of Health and Social Care spokesman told the BBC: 'The prenatal test is never meant to be used for determining the sex of a child. We will continue to review the evidence.'
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