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The Fertility Show

Issue 871 (03 October 2016)

 

Welcome to BioNews by email, published by the Progress Educational Trust, providing you with news, comment and reviews on genetics, assisted conception, embryo/stem cell research and related areas.

Visit the BioNews website at www.bionews.org.uk where you can subscribe for free to receive BioNews by email in one of three formats, and search the archive of more than 6,000 articles.

 

 

CONTENTS

Comment

News Digest

Reviews

 


 

The Mexican mitochondrial fiasco

28 September 2016

By César Palacios González

Associate Researcher, Centre of Medical Law and Ethics, Dickson Poon School of Law, King's College London

Appeared in BioNews 871

I was sitting down, reading an ethics article on how mitochondrial replacement techniques should be classified, when BioNews alerted me that New Scientist had announced the birth of the first baby using the very technology I was reading about. This baby had been born following maternal spindle transfer, one of the mitochondrial replacement techniques whose use was recently been made legal in the UK, and that is being discussed in the USA.

These techniques, in short, have been developed to allow women who carry mitochondrial DNA diseases – which can be debilitating and life-threatening – to avoid passing these on to their children. There are two main techniques for doing this. One of them rehouses the nuclear material from the intending mother's egg in the enucleated egg of a healthy donor; it is called maternal spindle transfer. The other one rehouses the nuclear material of a one-cell embryo produced with the intending parent's gametes; this is called pronuclear transfer.

Now, not has only Dr John Zhang's team announced the live birth of a baby, but that baby – who is five months old – is reportedly doing well (see BioNews 871). This is a remarkable biotechnological achievement. A happy event, I thought.

Then I stopped and wondered – where did this take place? And I read that it had all happened in Mexico. The horror! I kept on reading, and then things went from bad to worse – Zhang is on record saying that he and his team chose to work in Mexico because 'there are no rules' in Mexico. At that point, I wanted to shut down my computer and call it a day. I'd like to think Zhang is being quoted out of context, but the damage is done.

At this point you might think that I am a bio-conservative and that I oppose these techniques for ethical or religious reasons. On the contrary, I have been working on the ethics of mitochondrial replacement techniques for a while, and I am on record defending their moral acceptability. I think that, in principle, it is ethically acceptable to carry out both maternal spindle transfer and pronuclear transfer. In fact, I think the baby born in this instance has not been harmed by the technique (as in, made worse off) in any way, since if the technique hadn't been used he wouldn't have existed. I also think that women with mitochondrial DNA diseases should have access to these techniques if they wish to have genetically related children. Why, then, am I – someone born and raised in Mexico – putting such a downer on what should be seen as a good news story?

In Mexico, there are no federal laws governing assisted reproduction, although various proposed amendments to the National Health Law regarding assisted reproduction are currently being discussed by the Mexican Government. The amendment that seems to have the best chance of being passed into law is very conservative, and will restrict assisted reproduction in many ways.

Here is a taster of the proposed changes. No access to assisted reproduction for single people, unmarried couples or same-sex couples (this is particularly important, given that the president has recently proposed an amendment to the constitution in order to include a same-sex marriage provision). International surrogacy will be forbidden. National surrogacy may be allowed, but only if the gestating mother is filially related to the couple that provides the embryo.

Finally – and most importantly, for what we are discussing – the amendment will also impact upon mitochondrial replacement techniques, since it will specifically forbid the creation of genetically modified embryos. One can argue that in a strict sense, mitochondrial replacement techniques do not modify genes, and thus this provision will not apply. Even so, I think that such techniques are highly likely to be construed as causing genetic modifications.

Another section in the proposed amendment specifies that any kind of eugenic practice is forbidden. If the intention behind using mitochondrial replacement techniques is to have children without mitochondrial DNA diseases, then this fact will be used to label these practices as 'eugenic' because they prevent people with certain diseases from being brought into existence.

So I was horrified to read that the first place in the world where mitochondrial replacement techniques took place was in Mexico, because I believe this will ease the way for this very restrictive amendment to be made into law. Once passed, it is going to be an uphill battle to undo.

Why do I think this news will impact on changes to the law in Mexico? First, because the conservative sector will mobilise its political forces in order to stop more 'three-person babies' being created and born in Mexico, just as it has mobilised against same-sex marriage. Let's remember that the Catholic Church is still a major political player in Mexico.

Second, because this whole issue is going to be construed as American scientists taking advantage of our legal voids in order to carry out research that is not allowed in their country. This is not going to play well with Mexican politicians. Perhaps unsurprisingly, Sylvana Beltrones, the politician who proposed the amendment that has the greatest chance of being passed into law, yesterday told BBC Mundo that she and her colleagues are trying to forbid the techniques that allow for 'three-parent embryos' to be created.

Zhang's team opened a new door in terms of reproductive possibilities, but they may very well be instrumental in closing the assisted reproductive door for many people in Mexico. I really wish that Zhang and his team had thought this one through.

SOURCES & REFERENCES

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

29 August 2017 - by Dr César Palacios-González 
Almost a year after the first live birth of a baby following a mitochondrial replacement technique procedure, the US Food and Drug Administration has sent a very strongly-worded letter to the scientist and team responsible for the event...
05 December 2016 - by Dr Julia Hill 
Scientists advising the HFEA have recommended that the technique of mitochondrial replacement therapy be approved for clinical use in the UK...
17 October 2016 - by Ayala Ochert 
Two women in the Ukraine are pregnant with babies conceived through mitochondrial donation as a treatment for infertility, according to a report in New Scientist...
10 October 2016 - by Giulia Cavaliere 
The announcement of the first baby born using mitochondrial spindle transfer, one of the two techniques that allow the replacement of faulty mitochondrial DNA, caught the UK scientific and bioethics community by surprise...

03 October 2016 - by Dr Julia Hill 
In a world first, the birth of a baby boy who was conceived using mitochondrial donation has been reported...
22 August 2016 - by Dr Özge Özkaya 
Chinese researchers say an IVF technique called pronuclear transfer can safely produce a viable pregnancy...
13 June 2016 - by Dr Özge Özkaya 
An extensive study examining human embryos created using mitochondrial donation has demonstrated that the technique does not adversely affect embryo development...
08 February 2016 - by Kirsty Oswald 
Clinical investigations of mitochondrial donation are 'ethically permissable', says a panel of experts reporting to the US Food and Drug Administration...
02 November 2015 - by Dr Katie Howe 
Regulations that came into force this week will enable the UK to be the first country in the world to allow the use of mitochondrial donation techniques during IVF...


 

Down's syndrome: NIPT in the bud?

03 October 2016

By Victoria Woodham

Geneticist and campaign manager for Future of Down's

Appeared in BioNews 871

Fact – invasive testing amniocentesis and chorionic villus sampling are associated with a risk of miscarriage.

Fact – introduction of NIPT, non-invasive prenatal testing, for Down's syndrome into the NHS will reduce the number of women who have invasive diagnostic testing.

So far, so good. These facts are absolute, and the chance to reduce the levels of miscarriage by reducing the number of invasive procedures can only be a positive – the loss of any wanted pregnancy is a tragedy. 

But what also needs to be considered by those championing the inclusion of NIPT in the NHS Fetal Anomaly Screening is the fact that NIPT increases the number of prenatal diagnoses of Down's syndrome, and that prenatal screening reduces the number of live births of individuals who have the condition if parents opt to end the pregnancy.

It has been argued that the RAPID, Reliable Accurate Prenatal non-Invasive Diagnosis, study shows that the introduction of NIPT 'may not significantly reduce the live birth rate' (1). However, the limited figures published from the UK National Screening Committee (NSC) study, would indeed appear to point to a numerical rise in diagnoses and subsequent terminations (2). The study not only revealed an increase in the uptake of initial screening, but also the extent of further screening and subsequent diagnostic testing. 

Under the current screening programme, approximately 50 percent with a combined screening result of >1 in 150 chance of Down's syndrome do not have subsequent testing (1), but in RAPID this was only seven percent. So, although 87 percent of pregnancies with a positive diagnosis of Down's syndrome were terminated as opposed to the current level of 90 percent, there was a numerical decrease in live birth rates as individuals who might normally refuse an invasive test elected to have NIPT. Therefore, although the authors suggest that this is a lower rate of termination, it is unlikely to be of statistical significance.

Furthermore, the researchers are looking to offer NIPT to anyone with a combined screening result of >1 in 1000. Other studies, eg. REFLEX, automatically send bloods for NIPT testing where the combined screening result is >1 in 800 (3).

Undoubtedly this satisfies the opportunity for reproductive autonomy that proponents of NIPT argue is crucial. Parents receiving a positive diagnosis are then able to decide whether to continue with their pregnancy. Only the staunchest few opponents to either termination or prenatal testing would seek to deny parents this option, but here is where NIPT does indeed raise new ethical concerns.

Is there a point where the cumulative effect of individuals choosing not to continue a pregnancy, because the baby will be born with Down's syndrome, crosses a threshold of ethical acceptability? How can it be acceptable that the elimination of people with Down's syndrome may become a reality?

We have seen this cumulative effect in countries like Denmark and Iceland (4). Could this become reality here? What will the implications of this be for any parents who opt to continue a pregnancy with a diagnosis of Down's syndrome? What will the implications be for individuals born with Down's syndrome or the current Down's syndrome community? This social experiment could have far-reaching implications, and there has not yet been sufficient consideration of these. While it might be appropriate to offer parents equitable access of an optimal testing strategy through the NHS, it would be ethically questionable to proceed without attempting to first understand the potential long-term effects.

The UNESCO International Bioethics Committee calls on states and governments to 'develop a framework that on the one hand acknowledges the right of an individual to make autonomous choices, and on the other ensures ... that no one shall be subjected to discrimination based on genetic characteristics and that individuals should be respected in their uniqueness and diversity' (5).

But how do we create that framework? In their recent article, Fisher and Chitty talk of possibly mitigating concerns about NIPT by rolling out the programme in a 'cautious way', and reference the education and infrastructure required to support it, which is one step to addressing concerns about this enhanced screening programme.

However, as it stands, it is unclear how this infrastructure will be delivered. The UK NSC analysis looked only at the cost-implications of including this test against the reduced number of invasive procedures. It did not consider the regulatory environment, the need for improved counselling for parents prior to embarking on NIPT, or even the need to increase access to appropriately qualified counsellors and upskill those administering the programme (6).

Furthermore, far from the assertion that 'women [considering their pregnancy choices] are neither coerced nor ill-informed and they act autonomously', the Down's syndrome community can evidence many anecdotal examples of the medical profession presenting outdated viewpoints of the condition (2). It is also not uncommon to hear of women who, in the same consultation that they have received a positive diagnosis, are also told that a termination has been booked for them, should they wish to go ahead.

This apparently commonplace behaviour within the medical fraternity is not only disrespectful of individuals with Down's syndrome, but also of the prospective parents. It has been shown that pathological grief is particularly high in women who terminate a wanted pregnancy for medical reasons, and this is exacerbated if parents do not receive appropriate support during the decision-making process. Genetic counsellors are trained to guide parents in a manner that enables them to make decisions appropriate to their personal and family situation, and yet genetic counsellors are rarely involved in prenatal screening for Down's syndrome and are in short supply in the UK.

Parents who choose to terminate do not, of course, consciously act out of discrimination but from fear of the unknown and a deep-seated attitude that is borne out of centuries-old discrimination against individuals with learning difficulties. But times have changed, even if wider attitudes beyond the Down's syndrome community haven't quite caught up; and the 21st century offers a very different narrative for those living with Down's syndrome. 

A 2011 study found that 99 percent of people with Down's syndrome are happy with their lives and that 79 percent of parents of children with Down's syndrome felt that their outlook on life was more positive because of their child (7). Certainly the introduction of early intervention programmes, access to improved healthcare and mainstream schooling means that the majority of children with Down's syndrome in the UK will attend a mainstream school, sit exams, enter the workplace and go on to live independently with minimum support. 

This is a stark contrast to when screening for Down's syndrome was first developed in the 1960s, and children with the condition were largely institutionalised, meaning that many never fulfilled their true potential. The introduction of a prenatal screening test, based upon the cost savings made by avoiding affected live births (8), perhaps did not feel as uncomfortable then as it does to some now?

The Government's response to the UK NSC recommendations has the potential to define the future society in a manner only seen previously by the initial introduction of prenatal screening, but the voices of those families and individuals with Down's syndrome need to be heard to ensure that the obligations outlined by UNESCO will afford them the necessary respect.

Victoria is a geneticist and campaign manager for Future of Down's, an online community for life with Down's syndrome in the 21st century. She is also a mother of two girls – the youngest of whom has Down's syndrome.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

06 March 2017 - by Emma Laycock 
The Nuffield Council on Bioethics has called for a ban on using early prenatal testing to find out the sex or sequence the whole genome of the fetus...
24 October 2016 - by Craig Macpherson 
Several online companies now offer non-invasive prenatal testing for Down's syndrome. While there are some protections for consumers, they are currently insufficient...
10 October 2016 - by Evelyn Jager 
In this documentary, Sally Phillips argues that individuals are more than just their biological characteristics and their potential health problems. But, if we view people in these terms, it's all too easy to ignore what fantastic qualities they might end up having too...

30 August 2016 - by Dr Ainsley Newson 
Jane Fisher and Lyn Chitty highlight in BioNews 864 that it's been almost nine months since the UK National Screening Committee recommended an 'evaluative implementation of NIPT into the NHS's antenatal screening programme – a recommendation that still awaits ministerial decision...
15 August 2016 - by Jane Fisher and Professor Lyn Chitty 
A central tenet of prenatal testing is to promote reproductive autonomy by providing women with information that can assist in pregnancy management. Bringing NIPT into the NHS will improve an established screening programme...
18 January 2016 - by Lone Hørlyck 
A new blood test for Down’s syndrome in high-risk women has been recommended for use on the NHS....
22 June 2015 - by Jane Fisher 
There has been much recent media interest in non-invasive prenatal testing for Down's syndrome, and this coincides with deliberations by the UK National Screening Committee on its potential inclusion in the NHS Down's syndrome screening programme...
13 April 2015 - by Kirsty Oswald 
Research shows that a new prenatal blood test for Down's syndrome outperforms current methods of screening...


 

Widow wins frozen embryo case

03 October 2016

By Antony Blackburn-Starza

Appeared in BioNews 871

A widow has been allowed by the High Court to keep embryos created with her late husband in storage for ten years.

Samantha Jefferies, 42, had already undergone two unsuccessful cycles of IVF on the NHS and had been about to start a third when her husband, Clive, died of brain haemorrhage in 2014 (see BioNews 857).

The couple had stored three embryos with the Sussex Downs Fertility Centre, originally giving consent for them to be kept for ten years, but it was claimed that this was later amended to two years at the request of the clinic. Mr Jefferies had also consented to their posthumous use.

The court heard that the clinic had a policy of offering storage only for the period for which funding had been secured (the couple had NHS funding for two years of storage). However, Mrs Jefferies argued that she could not recall either her or her husband signing the amended consent form.

Mrs Jefferies sought permission from the High Court to store the embryos for ten years, until 2023. The Guardian reports that her lawyer, Jenni Richards QC, told the court: 'Samantha has brought this case because the embryos she is seeking to preserve represent her last chance of having the child of her husband they had both so dearly wanted.'

Granting her request, Sir James Munby, president of the Family Division, said the case 'turned on a signature'. He ruled that it was 'obviously right' that the embryos be stored for the period that was initially agreed and that he was sorry that Mrs Jefferies had to end up in court as the result of the mistake of others.

Her application was supported by the clinic, which has since changed its storage policy, and also the HFEA on the grounds that Mr Jeffries had not signed the amendment, reports the Guardian.

Speaking after the decision, Mrs Jefferies said the result was 'overwhelmingly fantastic – just brilliant, amazing'.

'There was so much compassion within the court, that it didn't feel like it was a fight. It felt like they were more supportive rather than it being a battle,' she said.

Lord Justice Munby said he would give his reasons for the decision in writing at a later date.

SOURCES & REFERENCES
The Guardian | 28 September 2016
 
Family Law Week | 29 September 2016
 
BBC News | 28 September 2016
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

24 July 2017 - by Georgia Everett 
A father is suing a London fertility clinic for £1 million after his ex-partner secretly conceived his baby via IVF following their split...
21 November 2016 - by Sarah Pritchard 
An appeal court in Missouri has ruled that a divorced couple's frozen embryos should be treated as marital property and not as people, under the state's divorce laws...
31 October 2016 - by Sarah Norcross 
The Progress Educational Trust's event on preserving fertility was held in Edinburgh on 25 October...

04 July 2016 - by Emma Nottingham 
The case of Samantha Jeffries - a widow who is trying to save the embryos she created with her husband before his death - holds lessons both for fertility clinics and for the HFEA...
27 June 2016 - by Ryan Ross 
The widow of a Falklands veteran is going to the High Court in an attempt to stop the couple's frozen embryos from being destroyed...


 

Australian fertility clinic loses embryos during power outage

30 September 2016

By Dr Linda Wijlaars

Appeared in BioNews 871

Twelve families in South Australia have lost embryos after a power outage compromised the incubators that the embryos were being stored in.

The embryos were being prepared for transfer in incubators at the Flinders Fertility private clinic when a storm caused widespread damage to the area, leading to a power cut. Although the clinic had its own generators, these also failed an hour after the power outage had started.

'Despite every effort by our scientists, the embryos are no longer viable,' said Flinders Fertility chief executive officer, Stefan Moro. 'This is a devastating situation for our patients, and very distressing for our staff.' He added that the clinic had contacted patients directly and were offering support and counselling.

The hospital Flinders Fertility is located in was also affected by the power outage, and a number of patients needed to be transferred to another hospital during the power outage.

'For our life-saving equipment, so ventilators and so on, they have a battery back-up which lasts for a couple of hours,' Jack Snelling, Minister for Health in South Australia, told ABC Adelaide. 'We took the precautionary step of moving those intensive care patients into Flinders Private, where they did have power because their back-up generator was working.'

The hospital's generator had been checked two days before the power outage, as part of preparations for the storm. The staff of the private fertility clinic were contacted when the generator failed and arrived within 20 minutes.

'But without power, there was nothing they could do to save those embryos,' Snelling said, adding that Flinders Fertility has offered the patients new rounds of treatment at no cost and that 'they will be prioritised as well'.

The clinic said that cryopreserved material was unaffected by the power outage.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

12 September 2016 - by Dr Rachel Brown 
Following the increase in 'social' egg freezing, the ten-year time limit on the storage of human eggs should be removed, according to a leading academic at the London School of Economics....
30 August 2016 - by Dr Bruce Shapiro 
Is it better to transfer fresh embryos during IVF or frozen embryos that have been thawed...
15 August 2016 - by Dr Barbara Kramarz 
Women with polycystic ovary syndrome who undergo IVF using frozen embryos are more likely to have successful pregnancies than those using fresh embryos, a study suggests...
08 August 2016 - by Antony Blackburn-Starza 
Fertility clinics in Australia have been warned not to offer flat fees to egg and sperm donors, reports the Sydney Morning Herald...
01 June 2015 - by Antony Blackburn-Starza 
The University of British Columbia has proposed to settle a class action involving the accidental destruction of sperm for $6.2 million...


 

World's first mitochondrial donation baby born

03 October 2016

By Dr Julia Hill

Appeared in BioNews 871

In a world first, the birth of a baby boy who was conceived using mitochondrial donation has been reported.

Mitochondrial donation involves conceiving a child with genetic material from three people - two parents and a mitochondrial donor - to prevent the inheritance of debilitating and sometimes fatal mitochondrial diseases.

'To save lives is the ethical thing to do,' Dr John Zhang, medical director of the New Hope Fertility Centre in New York, who carried out the procedure, told New Scientist.

The baby, born in April, was conceived using mitochondrial donation because the boy's mother is a carrier of Leigh syndrome, a mitochondrial disease which affects the brain, muscles and nerves. Mitochondrial DNA is inherited solely from the mother, and the couple's two previous children had both died from the condition.

The baby boy is reported to be healthy. Different tissue samples indicate an average level of 1.6 percent of mitochondria which carry the mutation; around 18 percent of mitochondria need to be affected to see symptoms of the syndrome. However, some are concerned that this could change over time, or differ between organs that were not sampled, such as the brain or the heart.

At present, the UK is the only country to have legalised mitochondrial donation. Yet the procedure was carried out in Mexico where, says Dr Zhang, 'there are no rules.' While many experts have welcomed the news, and anticipate it may encourage further research and legislation in the field, it has also raised concerns and debate within the scientific community.

Dr Dusko Ilic, a stem cell researcher at King's College London, told the Guardian: 'By performing the treatment in Mexico, the team were not subject to the same stringent regulation as some other countries would insist on. We have no way of knowing how skilful or prepared they were, and this may have been a risky thing to do.'

The baby was conceived using the maternal spindle transfer method, in which nuclear material is removed from an egg of the mother and is placed into an enucleated egg from the mitochondrial donor containing healthy mitochondria. The resulting cell, containing genetic material from both women, was then fertilised using sperm from the father.

Of the five embryos created this way, only one developed normally, and this one was implanted into the mother. So far only an abstract of this latest research has been published online. The research will be presented at the American Society for Reproductive Medicine meeting in Salt Lake City in October.

Dr Zhang has published a paper reporting on an earlier attempt to use mitochondrial donation in China in 2003, where no embryos survived to term.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

25 September 2017 - by Jenny Sharpe 
A campaign has been launched in Australia to overturn laws preventing couples from accessing mitochondrial donation...
14 August 2017 - by Shaoni Bhattacharya 
A new approach to genetic analysis may lead to a faster way to diagnose mitochondrial disease...
14 August 2017 - by Georgia Everett 
The Food and Drug Administration has warned a US fertility doctor to stop marketing mitochondrial replacement therapy – a technique involving the creation of an embryo with DNA from three people...
19 June 2017 - by Shaoni Bhattacharya 
The fertility doctor who led the team which produced the world's first baby through mitochondrial replacement therapy is now looking to use the same technique in a commercial venture...
30 May 2017 - by Jennifer Willows 
The UK Court of Appeal has upheld the High Court's decision that an experimental treatment offered by a US doctor will not benefit ill baby Charlie Gard, and could cause significant pain and distress...

22 August 2016 - by Dr Özge Özkaya 
Chinese researchers say an IVF technique called pronuclear transfer can safely produce a viable pregnancy...
13 June 2016 - by Dr Özge Özkaya 
An extensive study examining human embryos created using mitochondrial donation has demonstrated that the technique does not adversely affect embryo development...
08 February 2016 - by Kirsty Oswald 
Clinical investigations of mitochondrial donation are 'ethically permissable', says a panel of experts reporting to the US Food and Drug Administration...
02 November 2015 - by Dr Katie Howe 
Regulations that came into force this week will enable the UK to be the first country in the world to allow the use of mitochondrial donation techniques during IVF...


 

Birthweight linked to genes involved in adult diseases

03 October 2016

By Meetal Solanki

Appeared in BioNews 871

Genes involved in determining a baby's birthweight may also predispose them to diseases in later life, such as heart disease and type 2 diabetes, a global study has found.

The study, which analysed more than 153,000 individuals, also found that genes play a much more significant role in determining birthweight than had been previously thought.

Researchers from 117 institutions in 17 different countries took part in the Early Growth Genetics (EGG) consortium. They found at least 60 regions in the genome that affect birthweight, accounting for around 15 percent of the variation in birthweight between babies. Earlier, it had been thought that genes account for just two percent of the variation in birthweight.

Many of these genetic variants have been linked to diseases of later life – high blood pressure, type 2 diabetes and coronary artery disease were linked to a low birthweight, whereas greater waist circumference and adult height were associated with a higher birthweight.

'What we have been able to show is that genetics are playing an important role here,' said Dr Mark McCarthy of the University of Oxford, co-author of the study, which was published in Nature.

'We see a pretty substantial overlap, which tells us that some of that link that people are observing in populations across the world must be mediated through shared genetic variants that are having an impact both on early life, and then 60–70 years later the same genetic differences impact on whether you are likely to get diabetes or not,' Dr McCarthy told The Guardian.

'The next step must include analysis of these gene pathways in tissues from pregnancy cohorts, and biosamples from adults with and without metabolic diseases, to work out exactly how these genes are involved in producing these effects,' added Dr McCarthy.

The researchers say that the study could help scientists understand how diseases such as type 2 diabetes arise and find ways to prevent and treat such conditions.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

20 June 2016 - by Rikita Patel 
Genomics could help predict drug side effects in patients with type 2 diabetes early in the drug development process, according to a study...
23 May 2016 - by Rachel Reeves 
A rare genetic mutation reduces the risk of having a heart attack by one-third, a study has found...
22 February 2016 - by Dr Ashley Cartwright 
A new blood test has been developed that can accurately detect all genes known to cause inherited heart conditions, say scientists...
14 December 2015 - by Ayala Ochert 
Men who have been diagnosed with infertility have a higher risk of developing heart disease and type 2 diabetes, as well as other general health problems, including alcohol abuse and drug abuse...
02 November 2015 - by Dr Jess Buxton 
A recent study suggests that embryonic gene activity may be altered by factors present in the womb even before implantation. This finding triggered a somewhat misleading newspaper article entitled 'Infertile mums "pass on DNA"', which claimed the research means recipients of donor eggs are passing on their own DNA to their child. This isn't the case...


 

Nuffield Council publishes preliminary ethical review of genome editing

03 October 2016

By Rachel Siden

Appeared in BioNews 871

Use of genome editing in human reproduction requires 'urgent ethical scrutiny', according to a report published by the Nuffield Council on Bioethics.

The preliminary report, 'Genome editing: an ethical review', looks at the potential impact of recent advances in the area, such as the development of the genome-editing technique CRISPR/Cas9. Following the report, the Council has now set up two expert groups to look in detail at two areas – human reproduction and livestock.

'Genome editing is already showing a potential to transform not only how biological research is carried out, but more importantly our expectations and ambitions for addressing challenges such as disease prevention and food security. Although most uses so far have been in research, the potential applications seem to be almost unlimited, given that the techniques are applicable to all organisms, from bacteria to plants, animals, and human beings,' said Dr Andy Greenfield, chair of the Nuffield Council on Bioethics Working Group.

The review follows significant developments in genome editing, such as the 2015 Chinese experiment editing the genes of human embryos, and the 2016 approval for genome-editing research on human embryos in the UK (see BioNews 799 and 837).

'Genome editing is a potentially powerful set of techniques that holds many future possibilities, including that of altering certain genetic features at the embryonic stage that are known to lead to serious and life-limiting disease,' says Professor Karen Yeung, chair of the Council's working party on human reproductive applications. 'In the UK and in many other countries, a long path to legislative change would have to be followed before this could become a treatment option.'

The report states that it is important to consider potential applications now, before they become practical choices: 'Addressing these difficult questions now will help meet concerns that technology is rushing ahead of public debate and allow such debate to influence the development of the technology, distinguish acceptable from unacceptable aims, and reduce the uncertainty and ambiguity for researchers and potential recipients of the technology.'

The two expert working parties, on human reproduction and livestock, will report their findings and recommendations in 2017.

SOURCES & REFERENCES
Nuffield Council on Bioethics | 30 September 2016
 
Nuffield Council on Bioethics (press release) | 30 September 2016
 
The Guardian | 30 September 2016
 
BBC News | 30 September 2016
 
Nature | 30 September 2016
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

28 November 2016 - by Lucas Taylor 
More than 75 percent of those with a genetic condition, and their family members, support the use of genome-editing technology, a survey has found...
31 October 2016 - by Jennifer Willows 
The Nuffield Council on Bioethics presented its preliminary report 'Genome editing: an ethical review' in the genteel surroundings of the Royal Geographical Society in South Kensington...

26 September 2016 - by Anneesa Amjad 
A scientist in Sweden has become the first to edit genes in healthy human embryos...
01 August 2016 - by Anneesa Amjad 
A survey has found that a majority of adults in the USA are worried about the potential use of genome-editing technologies to give children a reduced risk of disease...
16 May 2016 - by Anneesa Amjad 
An international body representing stem cell scientists has included human genome editing in its updated guidance on the manipulation of stem cells and their use in therapy...
01 February 2016 - by Ayala Ochert 
The Human Fertilisation and Embryology Authority has granted the first licence to a UK researcher to edit the genomes of human embryos...
07 December 2015 - by Dr Jane Currie 
An international summit has agreed conditions under which human genome editing, using techniques like CRISPR, should proceed...


 

US Congress passes bill approving IVF for veterans

03 October 2016

By Georgia Everett

Appeared in BioNews 871

The United States has introduced legislation allowing the Department of Veteran Affairs (VA) to fund fertility treatment, including IVF, for veterans wounded in combat.

The bill lifts a 24-year ban on VA coverage for such treatment, and it is thought that as many as 1800 veterans who have suffered reproductive injuries while serving in the armed forces could benefit from this legislation.

Walinda West, a spokesperson for the VA, congratulated Congress on its decision to pass the legislation, listed as the FY2017 Military Construction, Veterans Affairs, and Related Agencies (MilCon-VA) Appropriations Bill.

'Including IVF in the medical benefits package would be consistent with the VA's goal to restore the capabilities of veterans and to improve the quality of veterans' lives,' she said.

However, while the new law has lifted the current restrictions on IVF funding, the VA has not formally announced when it plans to begin offering such coverage. According to the bill's primary sponsor, US Senator Patty Murray, the legislation does not entitle the VA to any extra money to pay for fertility treatment and they will have to generate the funding via other means.

The Congressional Budget Office has estimated that the VA would need to generate an extra US$145 million each year to cover the costs of offering such a benefit. If the funding cannot be easily generated, then the veteran benefit may not proceed as planned.

The VA is yet to confirm whether it will still provide the funding to veterans for reproductive services if they do not receive additional costs from Congress, and although the MilCon-VA Bill lifts the ban on IVF funding, it does not necessarily mean that the VA has to act upon it anytime soon, or even at all.

The previous ban on IVF funding was supported by religious conservatives in Congress concerned with the destruction of embryos following IVF, and legislative attempts to overturn the restrictions in recent years have been opposed. The MilCon-VA Bill was passed as a last minute addition to a temporary budget bill to fund the VA and only lasts for two years.

Supporters of the legislation have pointed out that the new law does not go far enough, reports the Stars and Stripes. 'It's a first step but what ultimately needs to happen is the ban needs to be repealed,' said a spokesperson for Senator Murray, who has campaigned for IVF coverage for veterans for a number of years.

If the treatment funding does go ahead, it will also cover costs for those who opt to explore adoption services rather than assisted reproductive technologies. The bill has been signed into law by President Barack Obama.

SOURCES & REFERENCES
Stars and Stripes | 29 September 2016
 
Military.com | 29 September 2016
 
RESOLVE (press release) | 29 September 2016
 
9News | 29 September 2016
 

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CRISPR used to investigate non-coding regions of the genome

03 October 2016

By Helen Robertson

Appeared in BioNews 871

Two teams of researchers have used CRISPR genome editing technology to identify 'non-coding' regions of the genome for the first time.

Non-coding DNA does not code for any known genes, but instead regulates the switching on and off of genes and is thought to play a major role in disease as well as responses to drug treatment.

'Ninety percent of the genetic variations that affect human disease are in the non-coding regions,' said Professor Eric Lander, founding director of the Broad Institute of MIT and Harvard and lead author of one of the two papers, both published in Science. 'But we haven't had any way to tell, in a systematic way, which regulators affect which genes.'

Both research groups used complementary CRISPR approaches to scan large regions of non-coding DNA sequences at once.

In the first study, carried out by the Zhang lab at the Broad, researchers used a CRISPR/Cas9 screen to create precise mutations in non-coding regions around three genes that are associated with resistance to chemotherapy.

The team identified hundreds of non-coding sites which, when mutated, caused reduced expression of the target genes NF1, NF2, and CUL3. In particular, they found that mutations to 24 non-coding regions around the CUL3 gene not only reduced gene expression, but also conferred resistance to vemurafenib, a cancer drug used in the treatment of melanoma.

The other study, led by Professor Lander, used a broader 'CRISPR interference' (CRISPRi) approach. The researchers used a 'dead' form of the Cas9 enzyme to silence non-coding sequences around two disease-related genes, GATA1 and MYC. Out of hundreds of possible regulatory regions, they found that only two were involved in GATA1 regulation, and only seven in MYC expression.

Both teams are optimistic about the potential of their findings to shed light on the importance of non-coding DNA in gene regulation.

'Compared to the sequences of protein-coding genes, we don't know much about non-coding regulatory elements,' said Dr Neville Sanjana, who worked in the Zhang lab. 'Our study and other gene-editing screens will enable us to discover the rules that govern these important parts of the genome.'

But first they need to scale up CRISPR technologies to scan larger regions of non-coding sequences. 'One of the huge challenges ahead is to extend this from one million to the full 3.2 billion bases in the human genome,' George Church, professor of genetics at Harvard Medical School, who was not involved in the study, told The Scientist.

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Event Review: Who owns your genome?

03 October 2016

By Isobel Steer

Appeared in BioNews 871

Do you know who owns your genome? And who, if anyone, would you choose to give your genetic information to? This debate, organised by the British Science Association and supported by Genomics England, covered the cutting-edge issues in genomic ethics and legality.

Professor Mark Caulfield is chief scientist of Genomics England, and made the case for donating your data to the 100,000 Genomes Project that he helped set up. The project has already started to help reduce the rare-disease burden, with the first children receiving diagnoses for their illnesses earlier this year at Great Ormond St Hospital. There is an aspect of industry involvement – but none of the companies will hold any intellectual property (IP) on the genomes. Instead, the IP will belong to Genomics England.

The panel generally agreed that such industry involvement is an inevitable aspect of our capitalist society and a vital part of drug development. Not all those who had donated their genome to the 100,000 Genomes Project felt the same, however – one donor challenged Professor Caulfield during question time, saying that he would rather not have the involvement of any private companies with his data.

This attitude is a very common one among the public, revealed genetic counsellor Dr Anna Middleton, who is head of society and ethics research at the Wellcome Genome Campus. She found that the majority of people would share their genetic information with their doctor and non-profit researchers but that far fewer would choose to share altruistically with a for-profit company. Interestingly, she found that people feared being inappropriately targeted for marketing, rather than being discriminated against for life insurance (which, she assured us, is a fallacy anyway).

Dr Middleton also highlighted that genetic testing has become standard in almost every NHS department, from oncology to obstetrics. She made the audience sit up by pointing out that even if you have not have donated data, if one of your relatives has been treated recently by the NHS, the likelihood is that your genes are on the system!

Professor Sir Mark Walport, the government's chief scientific adviser, argued against treating genetic data any differently to ordinary medical data. Legislative bodies exist for other aspects of modern medicine, such as the Human Fertilisation and Embryology Authority (HFEA). He suggested that if a safe, accountable and trustworthy system exists, people will be happy to donate their data; although he did acknowledge and despair of the 'cognitive dissonance' that leads people to share personal data on social media, but not share key data with scientists!

Writer Timandra Harkness, the author of Big Data, shocked the audience with an alarming FBI anecdote. During an interview an agency representative suggested it was possible to use someone's genome to design a personalised bioweapon – and then admitted the FBI could offer no protection against this futuristic assassination. More mundanely, genetic information could also be used for identity theft. Despite these risks, Harkness argued that your genetic data is medically useful and should be shared, asking 'is it moral not to share data if it would benefit wider society?'

The 'futurist, transhumanist' researcher Dr Anders Sandberg was the only panellist who spoke of having genetic testing. This was because his aunt had the BRCA1 mutation and caused a family schism by warning the rest – some family members did not want to know their risk. This anecdote illustrated some of the philosophical dilemmas of genetic information. Sandberg contentiously argued that normal concepts of privacy do not apply to genetics because we 'leak' genetic information everywhere we go. He believes updated legislation is the only way to stop future misuse of the data.

The panel was clearly divided on the ethics of data sharing. Professor Walport took an attitude that is fairly typical of genetic researchers as he didn't see why people shouldn't altruistically share their data. Harkness went further, saying it was a moral obligation to share and support either a compulsory (e.g. Kuwait) or an 'opt-out' (e.g. Iceland) genetic-sharing scheme. Dr Sandberg introduced a note of caution, pointing out the concept of free will and arguing against donating information to morally dubious societies.

The general consensus was that effort was needed to change people's perception of pharmaceutical companies and make the public happier to donate to them. Eventually all agreed that the 'opt-out' model erodes trust as it relegates a person's body and genes to state property. Dr Middleton advocated an 'informed model', which would require more work but would engage the public in their genome ownership. After attending this lively debate, I certainly felt more informed and engaged with my genome!

The conversation was tweeted under the hashtag #futuredebates.

SOURCES & REFERENCES

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Book Review: Regulating Reproductive Donation

03 October 2016

By Antony Blackburn-Starza

Appeared in BioNews 871

Regulating Reproductive Donation

Edited by Dr John Appleby, Professor Susan Golombok, Professor Martin Richards, Professor Rosamund Scott and Professor Stephen Wilkinson

Published by Cambridge University Press

ISBN-10: 1107090962, ISBN-13: 978-1107090965

Buy this book from Amazon UK


This collection of essays from leading lawyers, fertility professionals, social scientists, ethicists, and others documents the experiences of families engaging in assisted conception, adding to the growing body of empirical studies in this area. It also assimilates the data on donor conception into the broader agenda of regulatory reform, linking the social and the legal and bringing together a range of multidisciplinary perspectives under a single overarching theme.

In several essays, the detailed legal framework governing donor conception is set out in all its complexity. Theresa Glennon outlines the regulations in the UK and the USA, while Pennings, Klitzman and Zegers-Hochschild explain how it works in the rest of the world. They highlight the differences between continents, and also within Europe, which are characterised by a mix of national and supranational laws, professional guidelines and local clinic rules. This 'incoherent and contradictory regulatory framework' – not to mention the influence of the European Court of Human Rights – makes for an impressive regulatory challenge, to say the least. One is left with the impression that harmonising legal reform will be essential in the future.

The breadth of this regulatory discussion is impressive, but there is depth too. Martin Richards presents a fascinating historical account of the regulation of donor conception. He writes that religious and social objections to donor conception can be traced back to the 1940s, when the Medical Defence Union advised doctors to match donors to patients so to 'avoid the dissolution of marriage'. In the 1960s, the Feversham Committee discouraged donation, but stopped short of recommending criminalisation. This historical context is essential for identifying the processes that may feed into the present regulatory framework.

The empirical observations themselves are fascinating. The collection does a good job summarising the key work in this area while also presenting a range of original contributions. For example, on the issue of donor offspring numbers, Freeman, Jadva and Slutsky observe how the removal of donor anonymity has meant that concerns about not knowing half-siblings have shifted to the potentially negative outcomes of donor offspring seeking out and finding one another. The data is limited, and there is little evidence on the longer-term outcomes of donor offspring contact, but the authors cite data from interviews conducted in the US showing that parents use connections with other donor-conceived (DC) families as a way of countering their lack of knowledge about the donor. They outline how DC families form a sense of community and solidarity, although there is a wide variation on how families understand the significance of genetic connections.

On rules around the selection of gamete donors, Graham, Mohr and Bourne set out the checks that donors undergo and their experiences of it, observing that clinics have different views on what makes a 'good donor'. They rightly point out that treating donors as a 'means to an end' is no longer feasible, which invites the questions of what role do they play and how do donors themselves feel about it? It is also clear that patients' views are evolving, and the donor's place is more heavily implicated in the kinship processes that come with donor conception. Blake, Ilioi and Golombok outline how parents think in creative and imaginative ways about an anonymous donor but, following the removal of anonymity, this now includes more practical concerns about the donor and what it would be like to meet him or her. Zadeh, Imrie and Braverman also suggest that patients are increasingly interested in a donor's appearance, character traits and education. Their interviews show that the extent to which patients are motivated by the information given about donors varies according to the regulatory context, observing also that matching of donors to patients or their partners was often encouraged by fertility clinic staff. In a complementary vein, Bobbie Farsides notes how each family's story about how and why they chose a donor is emerging as a 'key part of the narrative' in the context of greater openness and the 'normalisation' of donor conception.

As much as these studies provide a crucial social context to the discussion of regulation – both helping ascertain the targets for law reform, but also the possible consequential social effects of its implementation – they also highlight the need for further work. On donor offspring, while Freeman et al trace the control of offspring numbers to the risk of unwitting incestuous relationships, Katharine Wright points out that the actual harm from consanguineous relationships is rarely explored – although she does observe that they still present a threat of social or psychological harm, with the fear of entering into consanguineous relationships being a harm in itself.

This text also presents some very interesting, novel arguments on the regulatory debate. Pennings adds a unique perspective in a chapter highlighting the responsibility of physicians in relation to reproductive tourism, within a debate that he says often focuses on the travelling patient – should doctors have a duty to inform about treatment abroad? Karnein and Iser add a rather different, perspective on responsibility, asking us to consider how bringing new children into the Western, industrialised world may lead to higher carbon emissions. Nevertheless, the authors conclude that these 'harmers' do not justify phasing out assisted conception, which would created another 'specific kind of injustice', but instead recommend a 'head tax' on every new child and to consider if we should tax emissions directly. 

Finally, this text offers more immediate practical recommendations. Discussing the non-identity problem, Stephen Wilkinson concludes that although donating for financial reasons alone may cause distress to DC children, it does not 'harm' them and should therefore not be prohibited on this ground alone. In other contributions, Rosamund Scott questions whether the UK's position on egg sharing is compatible with the EU Tissue and Cells Directive, while John B. Appleby recommends that DC people should be allowed to access identifying information at the age of 16 and that parents should receive identifying information about the donor following birth to help them in managing contact and informing their children.

On surrogacy, Vasanti Jadva outlines empirical data that examines the psychosocial experiences of those involved, showing that children born through surrogacy are comfortable. But there remain questions about how they feel as they grow older and also regarding contact with the surrogate. In another contribution, Natalie Gamble offers a range of reform recommendations, making a strong case for surrogacy reform in principle (and not just for pragmatic reasons). She says it is time to revisit the initial reluctance to support surrogacy and, if we take the view that surrogacy is a benefit, then we should figure out the best ways to support it.

The descriptive content can be difficult to trawl through and the conclusions have a tendency to sometimes be a little implicit, not to mention my ever-present unease with any departure from an overriding normative agenda and move towards evidence-based policy making (see my comments in BioNews). However, the value-added information content this text provides is reason enough for me to recommend it to all who study and research in this area. It is perhaps one of the more useful books I have read, both in terms of my own doctoral research into donor conception and also teaching medical law. But, for me, what stands out most of all is how the text provides an example of how interdisciplinary formulation of law and policy can work, and what challenges come with it.


Buy Regulating Reproductive Donation from Amazon UK.

SOURCES & REFERENCES

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Published by the Progress Educational Trust

CROSSING FRONTIERS

Moving the Boundaries of Human Reproduction

Public Conference
London
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Jacques Cohen

Dr Anna Smajdor

Dr Andy Greenfield

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross


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