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12 August 2019 - by Sarah Gregory
A couple in Ohio is suing a fertility clinic and associated organisations after a genetic test given as a Christmas present revealed a sperm mix-up in their IVF treatment.
Using a DNA kit, Joseph Cartellone discovered that he was not biologically related to his daughter, who had been conceived following IVF treatment at the Christ Hospital and the Greater Cincinnati Institute for Reproductive Health in 1994. The family is now suing for unspecified damages.
'It's hard to explain the shock and agony when you find out that someone you love and care for - your own daughter - is not genetically related to you,' Joseph Cartellone said at a Washington DC news conference. 'There's a mix of anger, pain and confusion that comes along with having to accept this and having to break the news to our family.'
Joseph and Jennifer Cartellone started IVF treatment at the Christ Hospital in 1993. The following February, Jennifer had three embryos transferred to her uterus, which she and her husband believed were made from her eggs and his sperm. She subsequently became pregnant with their daughter Rebecca.
However, last Christmas, Rebecca bought the family DNA kits from Ancestry.com to explore their heritage and the results, later confirmed by a paternity test, showed that father and daughter were not biologically related. The Cartellones still do not know the identity of Rebecca's biological father, but a private investigation by the family has traced him back to a handful of men, including a doctor working at the hospital at the time.
Joseph Cartellone said that his wife now 'has to deal with the fact that this clinic… fertilised her eggs with a complete stranger's sperm and placed them in her body' and in an interview with Good Morning America said that his daughter is 'experiencing significant emotional stress and confusion concerning her own identity'.
A lawsuit has been brought against the Cincinnati Institute for Reproductive Health, the associated The Christ Hospital, and Ovation Fertility, and includes counts of breach of contract, battery and negligence. The Cartellones are also seeking damages for facilities to reveal who fathered Rebecca and how the alleged mishap occurred; they also want to know if Joseph Cartellone's sperm was used by another of the clinic's clients.
'These clinics need to be held accountable and they need to suffer real consequences for their actions,' said Joseph Cartellone. 'We're willing to do whatever it takes to make sure that this doesn't happen again to anyone else.'
The current case highlights the insufficient regulation of fertility clinics in the USA, whereby  'error reporting is essentially voluntary, and tragic cases of lost, destroyed or otherwise improperly handled embryos appear to be on the rise' according to a recent report by law firm Peiffer Wolf Carr and Kane. The firm, which is representing the Cartellones, said that 'nail salons are subject to far tighter state and federal controls than US fertility clinics'.

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Re TT and YY: 7 October 2019 - by Liam Davis
In Re TT and YY [2019] EWHC 1823 (Fam), the UK High Court decided that a trans man (called TT in court documents), could not be named as a 'father' on his child's (YY) birth certificate because he gave birth to YY. Instead, he had to be named as the 'mother'.
The facts of Re TT and YY have been previously documented (see BioNews 1017). TT was assigned female at birth, later transitioned to male and is now called Freddy McConnell. He received a Gender Recognition Certificate (GRC) under the Gender Recognition Act 2004 (GRA), legally stating his gender (and sex) as male. Central to this case was whether this meant the Registrar General should register him as the child's father. The Registrar General refused, leading TT to request a judicial review of the decision.
The definition of 'mother'
In deciding that TT could not be registered as the 'father', the judgment defines 'mother' for the first time under English common law. Sir Andrew McFarlane (President of the Family Division of the High Court), framed 'mother' status purely in terms of reproductive experience (para. 279). He says that 'mother' status follows from the 'biological role in giving birth' and is separate from one's gender: TT is a 'male mother'. 'Male' in the sense that TT has received legal recognition of his male gender but a 'mother' due to giving birth. Therefore, it is accepted that those of the male gender can give birth.
The decision raises a potential inconsistency between this legal meaning of 'mother' and its everyday meaning, which seems to be gendered, and is thus an unacceptable term for most trans men. Since TT has been afforded legal recognition as a male, he sees 'father' as more appropriate, and some may question why the birth-giver should be termed a 'mother' other than because this is how the law has always operated.
The judge also considered the meaning of 'mother' in various statutory contexts. Important amongst these was section 33(1) of the Human Fertilisation and Embryology Act 2008, which says that the 'mother' is the 'woman' who gives birth.
Some feminists have actively sought to disassociate motherhood from childbirth, arguing that 'motherhood' is a state of doing rather than something achieved automatically through childbirth. The definition may also fail to engage with the lived reality of trans people, surrogates – who largely do not see themselves as mothers – and adoptive parents.
The option for trans men to be registered as a 'parent' was not discussed in the judgment, despite forming part of TT's arguments.
Aside from the common law, the case also considered the situation under the European Convention on Human Rights (ECHR). It was accepted that the UK's birth registration scheme did interfere with TT and YY's Article 8 ECHR right to a private and family life, but this was found to be proportionate and justified. This was because naming the birth-giver 'mother' was necessary for a 'coherent and certain' birth registration scheme (paras. 270 to 271), which also upholds the rights and interests of others.
Retention of the 'traditional' (sexual) family and mismatches between law and identity
The law may be seen to privilege a certain portrayal of 'family' life. On parental orders and adoption certificates (which transfer legal parenthood in cases of surrogacy and adoption, respectively), there is no field for 'mother' or 'father' – only 'parent'. Technically, then, a child can only have a mother and father (correctly identified) by being born to a cisgendered, heterosexual woman, and her male partner. There is no provision to have two 'mothers' or 'fathers', and certainly no way to have more than two legal parents (which can be achieved in jurisdictions such as British Columbia, Canada, and California).
There is also an inherent tension between sections 9 and 12 of the GRA: someone can 'acquire' a gender (and sex) under section 9 'for all purposes', but under section 12 this is not recognised in relation to parenthood. This mismatch inevitably brings into question the purpose of a GRC and legal gender recognition generally. A Government-led consultation on the GRA closed in October 2018, so some of these aspects may be considered.
It may also be argued that TT and YY's Article 14 ECHR rights (prohibition of discrimination) were not given sufficient weight, because birth registration issues will, potentially, impact trans people disproportionately. The balancing exercise between trans people and other affected parties was clearly in favour of ensuring 'coherency and certainty' as understood by the 'traditional' cis-heteronormative family.
This judgment may seem at odds with the growing acceptance of the rise in 'non-traditional' family structures.
One option open to the judge would have been to issue a declaration of incompatibility, especially as some EU countries (like Sweden) allow trans parents to register births in their 'acquired' gender. The European Court of Human Rights has also made several decisions reflecting the 'social reality' of family life which may mean that trans men and women should be registered according to their 'acquired' gender (and sex) in the interests of all involved.
In his judgment, Sir Andrew called on Government and Parliament to address the issue of a trans man giving birth 'square-on' (having also previously called for a review of existing fertility laws- see BioNews 987).

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29 July 2019 - by Dr Nicoletta Charolidi
Women in England with advanced ovarian cancer will now have access to a drug that could help halt the progression of their disease much earlier in their course of treatment.
Olaparib is a targeted cancer drug that has been shown to delay signs of relapse and reduce the chance of death in women who have BRCA-mutated ovarian cancer (see BioNews 973). Previously, olaparib was only available to patients who had had surgery or been treated with three different chemotherapy drugs. The latest decision means patients will now be offered the drug after one round of chemotherapy.
Chief executive of The Institute of Cancer Research, Professor Paul Workman, said: 'It's fantastic news that olaparib will now be available on the NHS for women who have advanced ovarian cancer and inherited BRCA mutations much earlier in the course of treatment when they are most likely to benefit.'
Rose Gray, Cancer Research UK's policy manager also welcomed the decision, saying that it's 'fantastic news' and 'will offer new hope' to those affected by ovarian cancer. 
The recommendation came following an ongoing phase-three clinical trial, showing that olaparib can delay ovarian cancers and reduce the risk of disease progression and death by 70 percent, when compared to a placebo drug. Sixty percent of patients who took olaparib showed no progression of their cancer after three years, in comparison to 27 percent of patients who received the placebo treatment.
Dr Susana Banerjee, a consultant medical oncologist at the Royal Marsden in London and Institute of Cancer Research, who co-led the trial, described the drug as a ‘practice-changing treatment'. And added that ‘treatment with olaparib heralds a new era for women with ovarian cancer - this is the first time we have seen such dramatic improvements in progression-free survival. This means more women will have a longer time before relapse, time of chemotherapy and the possibility of increased survival.'
Olaparib is made by AstraZeneca and belongs to the class of PARP (poly-ADP ribose polymerase) inhibitor drugs, so called because they block the protein PARP from repairing damaged DNA in cancer cells causing them to die. The extension of olaparib treatment will be paid for through the Cancer Drugs Fund (CDF), and the potential of the drug to extend patients' lives will continue to be assessed.
'Because it's been recommended for the CDF, patients will be able to access the drug while more evidence is gathered on its longer-term benefits,' said Gray.
Wales and Northern Ireland will most likely adopt the same practice. Scotland is also considering approving the drug.
Click here to view SOURCES & REFERENCES and RELATED ARTICLES from the BIONEWS ARCHIVE or to leave a comment about this article.
One in six women conceive naturally after unsuccessful IVF
29 July 2019 - by Jakki Magowan
The chances of having a treatment-independent live birth following IVF or ICSI are favourable, say researchers at the University of Aberdeen.
New study results found that one in six (17 percent) of patients experiencing unsuccessful cycles of IVF went on to have a baby without help, within five years.
'IVF is not something that couples take on lightly,' said lead researcher Dr David McLernon. 'It can be a physically and emotionally demanding process even if treatment is successful. When it is unsuccessful, understandably couples can be left distraught ... This study gives couples a clearer idea of their chances of conceiving naturally, even after IVF has been unsuccessful.'
Conception rates were recorded by Dr McLernon and his team at an IVF unit in Aberdeen. The study included 2,133 women who had received treatments between 1998 and 2011 who were followed-up between one and 15 years later.
1,060 of these women achieved a live birth following successful IVF or ICSI and 15 percent went on to have another live birth, independent of treatment within five years. The remaining 1,073 whose treatment resulted in no pregnancy or pregnancy loss went on to have a live birth (17 percent).
According to their report, among unsuccessfully treated women, the chance of post-IVF live birth was reduced in those with tubal factor infertility. The researchers also acknowledge that data was unavailable on the women's use of contraception or active attempts to get pregnant which could influence treatment-independent live birth rates.
However, the study, funded by the Scottish Government Chief Scientist Office and published in Human Reproduction is the largest of its kind. A small number of other studies have investigated treatment-independent conception following IVF, but the majority were based on surveys with poor response rates and limited sample sizes.
'This study looked at data from more than 2,000 women which we think makes it one of the most robust studies of its type,' said McLernon. 'Hopefully with this information patients will be able to make an informed choice about their next moves after treatment.'

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29 July 2019 - by Dr Nicoletta Charolidi
Women in England with advanced ovarian cancer will now have access to a drug that could help halt the progression of their disease much earlier in their course of treatment.
Olaparib is a targeted cancer drug that has been shown to delay signs of relapse and reduce the chance of death in women who have BRCA-mutated ovarian cancer (see BioNews 973). Previously, olaparib was only available to patients who had had surgery or been treated with three different chemotherapy drugs. The latest decision means patients will now be offered the drug after one round of chemotherapy.
Chief executive of The Institute of Cancer Research, Professor Paul Workman, said: 'It's fantastic news that olaparib will now be available on the NHS for women who have advanced ovarian cancer and inherited BRCA mutations much earlier in the course of treatment when they are most likely to benefit.'
Rose Gray, Cancer Research UK's policy manager also welcomed the decision, saying that it's 'fantastic news' and 'will offer new hope' to those affected by ovarian cancer. 
The recommendation came following an ongoing phase-three clinical trial, showing that olaparib can delay ovarian cancers and reduce the risk of disease progression and death by 70 percent, when compared to a placebo drug. Sixty percent of patients who took olaparib showed no progression of their cancer after three years, in comparison to 27 percent of patients who received the placebo treatment.
Dr Susana Banerjee, a consultant medical oncologist at the Royal Marsden in London and Institute of Cancer Research, who co-led the trial, described the drug as a ‘practice-changing treatment'. And added that ‘treatment with olaparib heralds a new era for women with ovarian cancer - this is the first time we have seen such dramatic improvements in progression-free survival. This means more women will have a longer time before relapse, time of chemotherapy and the possibility of increased survival.'
Olaparib is made by AstraZeneca and belongs to the class of PARP (poly-ADP ribose polymerase) inhibitor drugs, so called because they block the protein PARP from repairing damaged DNA in cancer cells causing them to die. The extension of olaparib treatment will be paid for through the Cancer Drugs Fund (CDF), and the potential of the drug to extend patients' lives will continue to be assessed.
'Because it's been recommended for the CDF, patients will be able to access the drug while more evidence is gathered on its longer-term benefits,' said Gray.
Wales and Northern Ireland will most likely adopt the same practice. Scotland is also considering approving the drug.
Click here to view SOURCES & REFERENCES and RELATED ARTICLES from the BIONEWS ARCHIVE or to leave a comment about this article.
One in six women conceive naturally after unsuccessful IVF
29 July 2019 - by Jakki Magowan
The chances of having a treatment-independent live birth following IVF or ICSI are favourable, say researchers at the University of Aberdeen.
New study results found that one in six (17 percent) of patients experiencing unsuccessful cycles of IVF went on to have a baby without help, within five years.
'IVF is not something that couples take on lightly,' said lead researcher Dr David McLernon. 'It can be a physically and emotionally demanding process even if treatment is successful. When it is unsuccessful, understandably couples can be left distraught ... This study gives couples a clearer idea of their chances of conceiving naturally, even after IVF has been unsuccessful.'
Conception rates were recorded by Dr McLernon and his team at an IVF unit in Aberdeen. The study included 2,133 women who had received treatments between 1998 and 2011 who were followed-up between one and 15 years later.
1,060 of these women achieved a live birth following successful IVF or ICSI and 15 percent went on to have another live birth, independent of treatment within five years. The remaining 1,073 whose treatment resulted in no pregnancy or pregnancy loss went on to have a live birth (17 percent).
According to their report, among unsuccessfully treated women, the chance of post-IVF live birth was reduced in those with tubal factor infertility. The researchers also acknowledge that data was unavailable on the women's use of contraception or active attempts to get pregnant which could influence treatment-independent live birth rates.
However, the study, funded by the Scottish Government Chief Scientist Office and published in Human Reproduction is the largest of its kind. A small number of other studies have investigated treatment-independent conception following IVF, but the majority were based on surveys with poor response rates and limited sample sizes.
'This study looked at data from more than 2,000 women which we think makes it one of the most robust studies of its type,' said McLernon. 'Hopefully with this information patients will be able to make an informed choice about their next moves after treatment.'

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29 July 2019 - by Rachel Siden
A new report has called for genome sequencing to be trialled alongside the nine tests that currently comprise newborn screening in the UK.
Including genome sequencing would facilitate testing for a greater number of rare genetic conditions and diseases, bringing the UK in line with the level of genetic testing performed in other countries, according to Genetic Alliance UK's report.
'The pace of adoption of new blood spot screening programmes in the UK has become so slow that we have been left behind by the majority of high-income countries,' Dr Jayne Spink, Chief Executive of Genetic Alliance UK, told HuffPost. 'It is painful to think of the unnecessarily long diagnostic pathways that some families in the UK must endure, and worse to think of the missed opportunities – including treatment.'
In the UK, parents can consent to have a blood sample taken from their newborn which is then sent away and tested for nine conditions that are rare, but serious. Getting an early diagnosis of a rare disease before symptoms begin can help families pursue treatment early or plan for the family's future. In other countries, a broader number of rare diseases and other conditions are tested for in the screening. Many countries in Europe test for 20 or more conditions, and US parents can opt to test for more than 50.
Which tests are included in newborn screening is determined by the UK National Screening Committee, which makes recommendations every three years. The Genetic Alliance UK report recommends that genome sequencing be piloted alongside current screening. Adding genome sequencing could expand the range of conditions tested for, and has the potential to shorten the period of diagnosis while remaining cost-effective.
'We have to ensure that newborn screening keeps pace with diagnosis in later life and we must embrace the potential of both current technology and that of genetics.' Said Dr Spink.
The National Screening Committee will be making its next recommendations in the Autumn.

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29 July 2019 - by Rachel Siden
A new report has called for genome sequencing to be trialled alongside the nine tests that currently comprise newborn screening in the UK.
Including genome sequencing would facilitate testing for a greater number of rare genetic conditions and diseases, bringing the UK in line with the level of genetic testing performed in other countries, according to Genetic Alliance UK's report.
'The pace of adoption of new blood spot screening programmes in the UK has become so slow that we have been left behind by the majority of high-income countries,' Dr Jayne Spink, Chief Executive of Genetic Alliance UK, told HuffPost. 'It is painful to think of the unnecessarily long diagnostic pathways that some families in the UK must endure, and worse to think of the missed opportunities – including treatment.'
In the UK, parents can consent to have a blood sample taken from their newborn which is then sent away and tested for nine conditions that are rare, but serious. Getting an early diagnosis of a rare disease before symptoms begin can help families pursue treatment early or plan for the family's future. In other countries, a broader number of rare diseases and other conditions are tested for in the screening. Many countries in Europe test for 20 or more conditions, and US parents can opt to test for more than 50.
Which tests are included in newborn screening is determined by the UK National Screening Committee, which makes recommendations every three years. The Genetic Alliance UK report recommends that genome sequencing be piloted alongside current screening. Adding genome sequencing could expand the range of conditions tested for, and has the potential to shorten the period of diagnosis while remaining cost-effective.
'We have to ensure that newborn screening keeps pace with diagnosis in later life and we must embrace the potential of both current technology and that of genetics.' Said Dr Spink.
The National Screening Committee will be making its next recommendations in the Autumn.

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29 July 2019 - by Dr Linda Layne
The gestational surrogacy memoirs of five European and American gay dads and one heterosexual single-father-by-choice suggest that sex selection for sons may be occurring (Layne 2018,2019). 
In all but one case the fathers either lived in or travelled to the US or Thailand: countries where preimplantation genetic screening (PGS) for social sex selection (SSS) was available at the time. None already had children. Ten of the twelve children that resulted were boys, mostly resulting from all-boy, multiple pregnancies (one set of triplets, two sets of twins). Might these memoirs reveal a larger pattern? 
A US study of 40 gay-father families created through (predominantly gestational) surrogacy, and 55 lesbian-mother families created through donor insemination, found that 60 percent of the men's children were boys and 40 percent were girls, while the children born to women were 50.9 percent boys, 49.1 percent girls (Blake et al. 2016; Golombok et al. 2017:6). The sample is not large enough to be conclusive, but together with the memoirs, it does raise the question of whether sex selection for boys is taking place among gay men who choose gestational surrogacy.
If they are, do the standard ethical objections to SSS pertain? For example, how relevant is the concern that sex selection reinforces gender stereotyping when the parents themselves are nonconforming? Gay dad memoirs and documentaries (Layne 2017) indicate that these fathers are not immune to gender stereotyping when it comes to parenting. The Daddy of the documentary 'Daddy and Papa' described feeling shame when their adopted son engaged in feminine behaviour, such as dressing up in a neighbour's high-heeled shoes, and recognised this as internalised homophobia. On the other hand, when their son showed enthusiasm for sports, the dads felt out of their element, having avoided sports themselves as children.
One of the reasons the notion of 'family balancing' is seen to be morally acceptable is because it endorses the cultural ideals of diversity and equality. But since the normative nuclear family is a man and a woman, a boy and a girl, is this not just reproduction of the heterosexual parents and if a male couple has two boys, is that not comparable? However, if the principle is self-replication, why do we not find a preference for girls in lesbian and heterosexual single-mother-by-choice families? Sperm sorting boasts a higher success rate for girls (Bahtia), having first been used by the dairy industry to increase the incidence of female calves (Rath et al), and could be just as effective as PGD is for men in producing sex-homogeneous families.
The issue, then, is not sex selection, but male selection. Other evidence suggests that in Europe and the US, SSS is used most often to produce boys (Lemke and Rüppel 2019:89, Sharp et al. 2010). The Gallup polls indicate male preference is predominant among would-be American fathers and has changed very little over the past 78 years. In 2018, 43 percent of the men surveyed said they would want a son compared to 24 percent who opted for a daughter (Newport 2018). Women responding to the Gallup poll have consistently shown no preference.
Another common objection to SSS is that unlike consumer goods, 'whose characteristics it is legitimate to select according to one's desires', children are a gift to be accepted and loved unconditionally (Scully et al. 2006:754). But even without PGD, gestational surrogacy almost always involves purchase of desirable traits. Commercial egg donation presents would-be fathers with a wide selection to choose from, something many of the memoirists say makes them uncomfortable, just as women who buy sperm report when faced with such an array of consumer choice (Layne 2013). But choose they do. Both groups often choose a donor who is tall because of the perceived 'advantage in life' height gives (Bonnie quoted in Tober 2019: 75); 'tall people are statistically more successful' (Hirschi 2015:136).
Being male also increases the likelihood of economic success. Despite The Ethics Committee of the American Society of Reproductive Medicine's (1999) reassurance that 'gender discrimination is not as deeply intertwined with economic structures in the United States as it may be elsewhere,' men are still more likely to succeed economically than women in the US and in the UK as seen in the ongoing gender-based wage gap (15 percent in the US and 17.9 percent in the UK).
A final ethical problem with the use of PGD for sex selection is it puts pressure on egg donors to produce more eggs so that there will be enough healthy embryos of the sex of the fathers' choosing. Elsewhere I have argued that traditional surrogacy is a more ethical method of undertaking family making via surrogacy because it poses fewer health risks for the surrogate and eliminates the need for egg harvesting. It also eliminates the temptation of using PGD for sex selection.
In countries where PGD for SSS is legal, clinics can achieve a market advantage by attracting reproductive tourists from countries where it is not. Whittaker (2011) describes those who partake as 'reproduction opportunists, exploiting regulatory deficiencies and biomedical entrepreneurialism to purchase whatever services they desire, whether they be sex traits or any of the other myriad of technologies promoted by global capitalism.' 
My take on it is that gay men and heterosexual single-fathers-by-choice who use gestational surrogacy and are therefore demonstrably willing to spend large amounts on family-making are likely targets for those seeking to profit from PGD/SSS.
In 2005, Franklin and Roberts published an ethnographic account of PGD in the UK (for medical purposes only) and contrasted this with lurid warnings about designer babies. In the intervening years, PGD has moved into new terrain. More chapters are needed to document the vigorously animated 'social life' of PGD.

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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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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.
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