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Issue 651 (02 April 2012)


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.

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News Digest




Victoria's secret (or 'V' for victory)

02 April 2012

By Dr Ruth Shidlo

Working in independent practice, Tel Aviv, and founder of Israeli Donor Families

Appeared in BioNews 651
Most of us take for granted knowing who our birth parents are. Yet untold numbers of donor-conceived people worldwide have not been told they are donor-conceived, or if they have, have been denied the right to access crucial information regarding their identity and ancestry.

Many parents admit that they didn't tell their children about the circumstances of their conception to protect them from the frustration of meeting an impregnable wall of silence regarding the identity of the donor. In some cases this would even cover non-identifying information, such as medical history.

Nowadays, parents are urged to tell children of their donor-conceived status, preferably prior to adolescence. This is to promote honesty and trust and to avoid potentially destructive family secrets and a shock later in life, should the news eventually be discovered.

Many thousands of donor-conceived people suffer distress and anguish because they are not allowed to establish links to their donor parent and to one half of their biological family tree. Documented testimonies and research suggest that this can have profound psychological consequences as donor-conceived people struggle to establish a personal identity based on a continuous and coherent - rather than a patchy and fragmented - life story. But recently the donor-conceived have become increasingly vocal in calling for changes in the law.

On Wednesday 28 March, the Law Reform Committee (LRC) in Victoria, Australia, published its landmark recommendations (1) on access by donor-conceived people to information about their biological parents. The recommendations by the five Committee members (drawn from both houses and all parties) are expected to gain bipartisan support in Parliament and lead the way for reform.

They represent a world first in establishing the right of donor-conceived people to retrospective access to identifying donor information.

The LRC considered the 'legal, practical and other issues that would arise if all donor-conceived people were given access to identifying information about their donors,' regardless of the date the donation was made (page ix).

Currently in Victoria, donor-conceived people born after 1998 have access to identifying information, those born between 1988 and 1997 have access conditional upon the donor's consent, and those conceived from gametes donated prior to 1988 have no legislated right to obtain information. There is, therefore, a lack of equality before the law.

Additional LRC mandates included examining: the relevance of the donor's consent or otherwise to the release of information, in the context of the relevant ethical guidelines; any practical difficulties (for example in obtaining records prior to 1 July 1988, which would not have been stored centrally); the impact of contemplated changes on current arrangements; the impact of transfer of information from the Infertility Treatment Authority to the Registrar of Births, Deaths and Marriages; and, lastly, implications of change under the Charter of Human Rights and Responsibilities Act of 2006.

According to the Chair, Mr Clem Newton-Brown, MP: 'The key questions that emerged were ethical'. Namely, should a donor-conceived person have access to information about his or her donor, and should he have that right even if the donor was assured he would remain confidential? (page xvii) Moreover, the role of the State in facilitating access to information regarding both donor and offspring was examined.

The LRC initially tended to side with the wishes of some donors to remain invisible. However, after considering the testimony of witnesses including donor-conceived people, gamete recipients and donors, and academics and heads of various organizations, the Committee changed its mind.

It recognised, unanimously, that the State has a responsibility to provide all donor-conceived people access to identifying information regarding their donors, regardless of when the donation took place and whether or not the donors were promised anonymity. This decision was seen to be consistent with legislation in place assuring that the welfare and interests of donor-conceived children are paramount, as well with the retrospective access to information previously granted to adopted children.

However, steps were taken to ensure that no 'unreasonable interference' occurs in donors' lives. Both donors and donor-conceived people should have the ability to place a veto on contact from each other. Moreover, comprehensive counselling for donors and 'all of the people affected by donor conception' as well as additional supportive measures were recommended (page xviii).

This is a victory not only for Victorians but for donor-conceived people everywhere, who through no fault or doing of their own, are denied their basic right to receive information regarding a biological parent's background.

Bartering away such an essential right has clearly not protected their welfare, a matter that should be of prime concern for the State.


16 April 2012 - by Dr John Appleby and Dr Lucy Blake 
The Nuffield Council on Bioethics has launched an inquiry on the ethics of disclosure in families with children conceived using donated reproductive tissue (i.e. eggs, sperm, or embryos). In spring 2013 the Council will publish a report on its findings, making policy recommendations where appropriate. This call for evidence is part of a long history of debate on the topic of disclosure in the UK and runs parallel to international debates in the USA, Canada, Australia and Europe...

27 February 2012 - by Dr Rachael Panizzo 
As a generation of donor-conceived children reach adulthood, Anonymous Father's Day looks at donor conception from the perspective of the children. It follows three donor conceived people who are actively raising awareness of donor conception, and the rights of donor-conceived children...
27 February 2012 - by Dr Marilyn Crawshaw and Walter Merricks 
It is now eight years since the HFEA first issued guidance to UK licensed treatment centres to respond as fully as possible to patients' requests for non-identifying donor information...
20 February 2012 - by Dr Rebecca Robey 
The state parliament in New South Wales (NSW), Australia, is considering whether sperm and egg donors' details should be mandatorily recorded on their children's birth certificate....
20 February 2012 - by Julianna Photopoulos 
Lawyers representing British Columbia's government were at the Canadian province's Court of Appeal last Tuesday attempting to overturn an earlier ruling which would effectively end anonymous gamete donation...


UK Biobank, the world's largest biomedical database, opens online

02 April 2012

By Cait McDonagh

Appeared in BioNews 651

The world's largest database of medical information has opened online, allowing researchers around the world to access its contents. The UK Biobank holds anonymous information from more than 500,000 British people, making it a 'globally unique resource' according to England's chief medical officer, Professor Dame Sally Davies.

The information collected from participants, all between 49 and 60 years old, includes height, weight, blood pressure and lung function. Medical histories are also included with notes on psychosocial factors, such as how often participants see family and friends.

The data further includes 100,000 eye tests, making it the largest ever eye study. Collected between 2006 and 2010 after eight years of preparation, the UK Biobank holds biological samples from participants and will be continuously updated with information from participants' NHS records. Participants gave their time and body fluids voluntarily, without being paid.

The information will be available on demand to scientists working on health-related research, regardless of their sector or source of funding. It is hoped that by mining such a rich resource, researchers will be able to pinpoint why some people develop diseases like cancer and heart disease in mid to later life while others do not.

Professor Sir Rory Collins, UK Biobank's principal investigator, said that it was a 'very exciting day for medical research'. Other countries including China and Sweden have similar databases, but the UK Biobank is the most comprehensive.

Applications to use the anonymous information will be made online and checked by the independent UK Biobank Ethics and Governance Council who have oversight of the entire system. All researchers using the database are required to add their own findings to it, further bolstering the information available.

Dame Davies said that the resource has 'huge potential for future generations and will help us understand how our children and our children's children can live longer, healthier lives'.

The UK Biobank is funded by the Wellcome Trust, Medical Research Council, Department of Health, Scottish Government, Welsh Government and the British Heart Foundation.

Reuters | 30 March 2012
UK BioBank (press release) | 30 March 2012
BBC News | 30 March 2012
Guardian | 30 March 2012


20 February 2017 - by Dr Rosie Gilchrist 
A UK Biobank study has found that genetics accounts for eight percent of the difference in people's feelings of tiredness and low energy...
26 September 2016 - by Ayala Ochert 
China has opened a national gene bank that could ultimately be the world's biggest, eventually housing 300 million genetic samples...
03 March 2014 - by Karen Birmingham 
The eight professors, including two Knights, who contributed to this event, were given a relatively easy time by the public, possibly because there was little time for questions or perhaps because the case for mass genotyping projects had been convincing...
11 November 2013 - by Simon Hazelwood-Smith 
The UK branch of the Personal Genome Project has launched, with the aim of sequencing the genomes of 100,000 British volunteers...
07 October 2013 - by Rhys Baker 
The Prime Minister, David Cameron, has announced a new partnership between Genomics England and Cancer Research UK as part of a Government bid to make the UK the first country in the world to sequence 100,000 genomes within five years....

06 February 2012 - by Dr Gill Haddow 
DNA databanks - controversial yet exciting endeavours to collect and store individuals' DNA alongside other information - are the subject of Bernice Elger's latest book, which Gill Haddow describes as fundamental reading...
05 December 2011 - by Professor Barbara Prainsack and Dr Alena Buyx 
What do research biobanks, social media and the NHS have in common?...
09 May 2011 - by Chris Chatterton 
The US Department of Veterans Affairs (VA) announced in Washington last week that the Million Veteran Program (MVP), a research project that aims to collect DNA, lifestyle and other health data from one million veterans under the care of the VA, was being rolled out nationally from 5 May 2011....
04 April 2007 - by Zulehkha Waheed 
The UK Biobank project, which aims to collect biological samples and medical information from half a million Britons, has finally got underway in Manchester, after eight years of preparation and planning. The scheme aims to recruit volunteers between the ages of 40-69, who will give up...
15 March 2006 - by BioNews 
A project to collect DNA samples and medical information from half a million Britons was launched this week, after years of planning. The UK Biobank, hosted at the University of Manchester, eventually wants to recruit up to 500,000 volunteers aged between 40-69 years. Initially, 3000 people living in the...


Vatican cancels stem cell research conference

02 April 2012

By Jessica Ware

Appeared in BioNews 651

The Vatican has cancelled a stem cell research conference scheduled to take place next month, citing a lack of participants.

Vatican spokesman Reverend Ciro Benedettini blamed 'organisational, logistical and economic factors' for the cancellation of the Third International Congress on Responsible Stem Cell Research conference.

The focus was to be on clinical applications of adult and reprogrammed stem cells, but experts in human embryonic stem cell therapy were also booked to speak. The Catholic church deems embryonic stem cell research unethical, and so these speakers had, according to Forbes, agreed to discuss only their work involving adult stem cells.

The conference, planned for 25 - 28 April and organised by the Pontifical Academy for Life, an arm of the Catholic Church dedicated to promoting the church's pro-life ethic and researching bioethics, would have been attended by the Pope.

A memo on the event's website said: 'Unfortunately, the scarce number of sponsors and registrations would have adversely affected the positive outcome of the meetings, and therefore this prompted the organisers to take the necessary steps to cancel the conference'.

The President of the California Institute for Regenerative Medicine, Alan Trounson, who was invited to speak at the conference called the cancellation a disappointment as 'it offered the opportunity for a constructive dialogue on all types of stem cell research'.

However, not everyone was disappointed, with other European scientists welcoming the cancellation, as they felt the conference might have had presented stem cell research in a negative light.

An unnamed source in the Academy told the Catholic News Agency they were 'infinitely relieved the Church has avoided a major blunder which would have confused the faithful for decades to come'.

He added: 'The Holy Spirit has certainly shown to be present through those faithful members who drew attention to the ambiguity of the choice of speakers. I hope and pray that a review will be affected of the basis on which these congresses are planned'.

Forbes | 26 March 2012
Nature News | 26 March 2012
Vatican stem cell conference cancelled partly over keynote speaker George Daley from Boston | 27 March 2012
Vatican, which opposes embryo research, cancels stem cell forum due to scarce participation
Washington Post | 26 March 2012


29 July 2013 - by Dr Daniel Grimes 
A paper in the journal Stem Cell Reports has reignited debate among a section of the stem cell research community. The study calls into question the existence of a type of cell that, if validated, would have great potential for use in regenerative medicine...
16 April 2012 - by Dr Daniel Grimes 
Italian Health Minister Renato Balduzzi has ordered an investigation of a fertility clinic at the San Filippo Neri hospital in Rome after a mechanical failure led to the destruction of 94 frozen embryos, 130 eggs, and five sperm samples....
16 April 2012 - by Ana Pallesen 
A commercial London laboratory is working with a clinic in Lebanon that uses medical techniques that are not verified by the medical community, and fall outside most countries' legal parameters...

26 April 2010 - by Nishat Hyder 
The Vatican announced on Friday it is to finance research into the potential use of adult stem cells for therapeutic purposes. It has agreed to donate two million Euros to a research project led by the University of Maryland's School of Medicine in the US to investigate the use of intestinal adult stem cells for treating disease...
20 April 2009 - by Professor Naomi Pfeffer 
In England and Wales in 2007, almost 200,000 women elected to terminate a pregnancy. Yet my research into fetal stem cells carried out under the ESRC Stem Cell Initiative, found obtaining fetal tissue for research, including stem cell research, surprisingly difficult (1). To some extent the quasi-official regulations that govern...
09 April 2008 - by Sheila AM McLean 
The Human Fertilisation and Embryology (HFE) Bill, currently making its way through the UK's Parliament, marks the first major re-think of the original Human Fertilisation and Embryology Act, passed in 1990. In the almost 20 years since the Act was passed, new medical developments and techniques have emerged which raise...
04 February 2008 - by Antony Blackburn-Starza 
US President Bush has used his final State of the Union address to call on Congress to introduce legislation to ban human cloning and to also provide additional funding for 'ethical' stem cell research. 'On matters of science and life, we must trust in the innovative spirit...
11 December 2006 - by Dr Jess Buxton 
The European Parliament's approval of funding for some human embryonic stem cell research reflects inequality in how individual countries recognise fundamental rights, according to a Vatican official. Following 19 months of negotiations and 2000 amendments - 700 of which were put to a vote - the 7th Framework...


Myriad Genetics breast cancer gene patent ruling sent back to lower court

02 April 2012

By Dr Sarah Spain

Appeared in BioNews 651

The US Supreme Court has ordered that the two gene patents held by Myriad Genetics be sent back to the US Court of Appeals for the Federal Circuit, to be re-examined.

Myriad Genetics has held patents for two genes, BRCA1 and BRCA2, since 1994. Mutations in these genes are associated with increased risk of breast and ovarian cancers, and the patents give the company exclusive rights to test for them. The test, called BRACAnalysis, costs around $3,000 per patient.

In 2009, the Public Patent Foundation, American Civil Liberties Union and the Association for Molecular Pathology filed a lawsuit against Myriad genetics, claiming that the patents violate patent law as they cover natural phenomena, and restrict scientific research and patients' access to medical care.

In 2010 a federal judge in New York ruled that genes cannot be patented, but this was overturned in July 2011 by the Court of Appeals, who also ruled that Myriad's technique for screening potential therapies was patentable.

The latest instalment of this long-running case came on 26 March, following a contradictory decision in a related case, where the Supreme Court denied Nestlé's Prometheus Laboratories' patents of biomarkers that help calibrate drug dosage. Justice Stephen Breyer wrote that inventors must do more than 'recite a law of nature and then add the instruction "apply the law"'.

'A unanimous Supreme Court has now undeniably declared that a trivial noninventive transformation' is insufficient for a patent, Daniel Ravicher, executive director of the Public Patent Foundation and co-counsel in the lawsuit, told the New York Times. He said that, as isolating DNA is a trivial, well-understood process, this new ruling contradicts the appellate court's decision to uphold Myriad's patents.

However, others doubt it will have that much influence, as the Myriad patents involve both composition-of-matter and process claims, while the Prometheus case only involves process claims.

According to an interview with Reuters, Junaid Husain, a research analyst for Dougherty & Co, said the choice to send the case back to the Appeal Court to be reheard could delay the verdict by another 'two to three years, keeping the BRACAnalysis franchise safe from competition'. This may explain why shares in Myriad rose over three percent following the decision.

The case is the Association for Molecular Pathology vs. Myriad Genetics, No. 11-725.

The Scientist | 28 March 2012
New York Times | 26 March 2012
GEN | 26 March 2012
Reuters | 26 March 2012
Wall Street Journal | 26 March 2012
Bloomberg | 26 March 2012


17 June 2013 - by Dr Sarah Spain 
The US Supreme Court has unanimously rejected a number of patent claims made by Myriad Genetics on isolated forms of two genes, BRCA1 and BRCA2, associated with an increased risk of breast and ovarian cancer....
18 February 2013 - by Matthew Thomas 
A patent over a gene linked to hereditary breast and ovarian cancers is valid, an Australian federal court has ruled in a landmark case....
05 November 2012 - by Antony Blackburn-Starza 
A group of academics has accused Myriad Genetics, the US biotech company that holds patents over the BRCA1 and BRCA2 genetic tests for increased risk of breast cancer, of keeping secret clinical data obtained from the tests by saying the information is commercially sensitive...
01 October 2012 - by Ruth Saunders 
The American Civil Liberties Union has asked the US Supreme Court to reconsider its decision to uphold the patent held by Myriad Genetics on two human genes associated with hereditary breast and ovarian cancers...
20 August 2012 - by Dr Sarah Spain 
In the latest instalment of a highly contested case, the US Federal Circuit Court of Appeals in Washington DC upheld Myriad Genetics' right to patent two genes, BRCA1 and BRCA2,which are associated with the risk of breast and ovarian cancer....

27 February 2012 - by Luciana Strait 
A new genetic mutation linked to a greater risk of developing breast cancer has been shown to interact with the well-known breast cancer-causing gene BRCA1...
23 January 2012 - by Ayesha Ahmad 
Myriad Genetics, a leading US molecular diagnostic company, has been granted exclusive rights to an analysis of the RAD51C gene. Mutations of the gene have been associated with an increased risk for hereditary breast and ovarian cancer and the company now hopes to develop a commercial test for RAD51C....
08 November 2010 - by Dr Nadeem Shaikh 
The US Department of Justice (DOJ) has weighed in on the complex issue of gene patenting against the principle that genes should be eligible for patent protection, reversing the government's position on the matter and causing consternation for many biotechnology companies. This week it issued a legal brief as a 'friend of the court' joining a lawsuit challenging the rights of companies to patent genetic technologies....
14 June 2010 - by MacKenna Roberts 
The Australian Federal Court in Sydney is considering groundbreaking legal action of whether private companies can obtain patents on human genes....
06 April 2010 - by Dr Vivienne Raper 
A US judge has invalidated a genetic testing company's patents on two breast cancer genes...


Genetic flaw raises flu risk

02 April 2012

By Dr Nadeem Shaikh

Appeared in BioNews 651

Differences in the severity of people's flu symptoms may be due to a genetic variant, according to scientists.

Normally the gene in question, IFITM3, produces a protein that stops the flu virus invading cells. Researchers found that when mice without this gene were exposed to the flu virus they suffered more critical symptoms, such as severe pneumonia, than normal mice. The virus also replicated ten times more than in the normal mice and penetrated deeper into the lungs.

In the general European population, around one in 400 people have a mutated version of IFITM3 that produces less of the protective protein. However, when the team analysed the genomes of 53 patients who had been hospitalised due to a flu infection, they found that one in 20 had the mutation.

Furthermore, people in intensive care with severe pandemic or seasonal flu in the UK were 17 times more likely to have a mutated version of IFITM3, when compared to Europeans in general.

This evidence suggests the gene plays a critical role in determining how vulnerable people will be to infection.

Co-author Professor Paul Kellam of the Wellcome Trust Sanger Institute acknowledged that since not all patients with severe symptoms carry the variant gene, it clearly is not the only factor to take into consideration.

'At the moment, if someone is in a more vulnerable group because of co-morbidity [another health problem], they would be offered the flu vaccine', he told the BBC. 'Our research is important for people who have this variant as we predict their immune defences could be weakened to some virus infections'.

The study, published in Nature, also reports that the IFITM3 gene became more widespread in humans around 10,000 years ago. This coincides with the time humans are thought to have first caught the flu, from livestock, suggesting it is part of an evolutionary adaptation to the emergence of the flu virus.

Analysis of IFITM3 may lead to patient screening to identify those who are potentially more vulnerable, making them a priority for vaccination. It may also help to design new vaccines against different types of viruses, not just influenza.

BBC | 25 March 2012
Daily Mail | 26 March 2012
Nature | 25 March 2012
New Scientist | 26 March 2012
Reuters | 25 March 2012


03 June 2013 - by Dr Anna Cauldwell 
A gene therapy technique can protect mammals from lethal strains of influenza, according to US researchers...
15 April 2013 - by David O'Rourke 
Synthetic biology is being used in the hunt for a vaccine for H7N9, the new strain of bird flu emerging in China, with hopes it could shave a vital two weeks off the development process...
04 February 2013 - by Matthew Thomas 
A genetic variant frequently found in Chinese populations may explain why severe complications from swine flu are more common in China. The discovery may also have implications for other influenza virus strains and help scientists understand why flu outbreaks hit some populations harder than others....
25 June 2012 - by Dr Greg Ball 
Controversial research showing how the H5N1 'bird flu' virus can be altered to make it transmissible between mammals through the air has been published, nine months after it was first presented at a conference....
15 May 2012 - by Nishat Hyder 
The genetic cause of blonde hair may be different in populations in Europe and Oceania, researchers have found. A single mutation in the TYRP1 gene, which is not associated with blonde hair in Europeans, was found in around one-quarter of Solomon Islanders and is believed to be major determinant for the pigmentation...

20 February 2012 - by Oliver Timmis 
What time of day it is could influence whether or not we get an infection. A protein known to be involved in the immune system may be influenced by the body's circadian rhythm, according to researchers at Yale University...
07 November 2011 - by Dr Rachael Panizzo 
Stem cells that are able to regenerate damaged lung tissue have been discovered by scientists. The brochioalveolar stem cells (BASCs), naturally present in the lungs of rodents and humans, are capable of rebuilding alveoli - the small air sacs in lungs...
03 October 2011 - by George Frodsham 
Genetic differences between men and women could mean that women are better at resisting certain infections and diseases than men, a new study suggests. The second X chromosome in women gives them an immunological advantage over men, possibly giving credence to man's perceived susceptibility to 'man-flu'....
30 August 2011 - by Dr Zara Mahmoud 
Scientists have suggested there may be a genetic basis behind the way our body reacts to the flu virus, making some of us more vulnerable than others. A study published in PLoS Genetics has tracked the body's response to the H3N2/Wisconsin strain of the flu virus at the genetic level. The researchers injected the virus into 17 volunteers and analysed expression patterns from the time of injection to the onset of full-blown clinical symptoms...


Call for moratorium on synthetic biology

02 April 2012

By Dr Louisa Petchey

Appeared in BioNews 651

Synthetic biology, which uses genetic engineering to build new genomes and organisms, has come under attack in a report published by Friends of the Earth and supported by over 100 other 'public interest' groups.

The report, 'Principles for the oversight of synthetic biology', calls for a suspension on the release and commercial use of all synthetic organisms and products until more stringent regulation is in place.

Describing current laws regulating biotechnology as 'outdated and inadequate', the report outlines seven guiding principles to be applied in order to place 'the health of people and the environment above corporate profits' and protect against the 'novel risks of synthetic biology'. Chief among these risks, the report says, are the possible impact on delicate ecosystems and the potential of synthetic organisms to develop into human pathogens.

The report also recommends a complete ban on the use of synthetic biology to manipulate human genomes or the microorganisms found in and on the human body, calling this research 'risky' and 'fraught with ethical concerns'.

A spokesperson for the Presidential Commission for the Study of Bioethical Issues in the USA, which said that synthetic biology posed no new risk following an investigation in 2010, told Science Insider that the Commission welcomes the organisations' input.

However, others, including Mr Brent Erickson from the Biotechnology Industry Organization, have described the report as unhelpful, both to policy-makers and to the public. Erickson says that 'the shrillness of [the report's] tone and its lack of objectivity' demonstrates a poor understanding of synthetic biology, which he considers to be very similar to what is now relatively routine genetic engineering. 'It's not like we don't have experience in dealing with those organisms', Erickson told Science Insider, 'there are a lot of safeguards in place'.

Genetic engineering is broadly defined as encompassing all activity that involves the manipulation of DNA and in particular the introduction of new genes into an organism. Synthetic biology is seen as the next step. It applies the principles of engineering to build new genomes and therefore new organisms by combining and re-writing genes into combinations that would not exist in nature.

The founding father of this field is Dr Craig Venter. It was his announcement in 2010 of the creation of world's first synthetic bacterial cell, whose genome had been made entirely in the lab and was capable of dividing and reproducing itself, which sparked the initial investigation by the Presidential Commission in the USA.

Dr Todd Kuiken from the Woodrow Wilson International Center for Scholars, in the USA, which has also prepared a report on the policy implications of advancement in synthetic biology, told MSNBC (Microsoft/National Broadcasting Company) that the principles outlined in this new report were 'not that much different' from the Presidential Commission's original recommendations and did not include anything 'that surprising'. Dr Kuiken agreed that 'there are potential risks' that need to be considered 'before we start putting these things out there'.

'Principles for the oversight of synthetic biology' was released to coincide with Dr Venter's discussion of 'made-to-order' microbes and their use in producing vaccines, food and biofuels at a meeting of the American Chemical Society.


06 June 2016 - by Rebecca Carr 
A group of 25 scientists have proposed an ambitious plan to create a synthetic human genome from scratch...
04 April 2016 - by James Brooks 
Scientists have designed and created a functional, self-replicating cell containing only 473 genes – the smallest genome of any organism to be grown in a lab...
21 September 2015 - by Dr Ross Cloney 
The key question of the 21st century may turn out to be: 'Who are we and what will we become?' This question and the implications of its potential answers are explored in 'FutureProofing: Life', which sets out to understand the field of synthetic biology...
12 May 2014 - by Siobhan Chan 
Bacteria with two extra synthetic DNA bases in their genome have been created in the lab for the first time...
31 March 2014 - by Rhys Baker 
The world's first fully-functional synthetic yeast chromosome has been created in an international seven-year effort...

18 April 2011 - by Professor Michael Moran 
The Nuffield Council on Bioethics has launched a consultation on the ethical issues raised by emerging biotechnologies. Following discussions about the ethical issues raised by synthetic biology, nanotechnology, stem cell research, genomics and other fields besides, the Council realised that these issues could be profitably examined together...
21 June 2010 - by Nishat Hyder 
According to the most extensive public survey yet the British public are at ease with the idea of synthetic biology - but only if it is responsibly regulated....
01 June 2010 - by Professor Marilyn Monk 
Craig Venter and colleagues recently published their work on a synthesised life form. Once again scientists are charged with playing God and the associated hype and scaremongering promise cures and treatments for all sorts of human and planetary ailments, threaten a future of unknown dangers from genetically manipulated life forms, and demand a re-analysis of the meaning of life and God....
24 May 2010 - by Dr Gabrielle Samuel 
As an ex-genetic researcher I was incredibly excited to hear in last week's news that researchers at the J Craig Venter Institute, US, have successfully constructed the first self-replicating, synthetic bacterial cell....
22 February 2010 - by Sarah Pritchard 
Scientists have created a new way of using the human genetic code, by adding 'designer' amino acids to the proteins in DNA to alter its biochemical behaviour. The research could pave the way to the development of what lead researcher Jason Chin is calling 'a parallel genetic code'....


All donor-conceived people should have access to donor information, Australian committee recommends

02 April 2012

By Rosemary Paxman

Appeared in BioNews 651

A law reform committee in the Australian state of Victoria has recommended that all donor-conceived people should be able to access identifying information about their donor parents.

Under current rules, only people conceived from gametes donated after 1 January 1998 are permitted unconditional access to donor information. People from gametes donated prior to this date may also access indentifying information, providing consent is obtained from the donor.

But people who were conceived from gametes donated before 1 July 1988, when the Infertility (Medical Procedures) Act came into effect, have no rights to access information about their donor.

The Victorian Parliament's Law Reform Committee, a joint committee with members taken from both the Legislative Assembly and Council, has recommended that the Victorian Government introduce legislation to allow all donor-conceived people, including those conceived with gametes donated before 1988, to obtain identifying information about their donors.

'While the Committee recognises that donors who donated their gametes before 1988 did so on the basis of anonymity, the Committee considers that donor-conceived people have a right to know the identity of the person who contributed half of their biological makeup', said the Committee's Chair, Mr Clem Newton-Brown, MP.

'The Committee is convinced that this right must be given precedence, even over the wishes of those donors who would like to remain anonymous'.

Some doctors have criticised the decision, warning that the proposal could compromise patient confidentiality and may be in breach of privacy guarantees previously offered to donors. Disregarding such assurances of anonymity could 'seriously undermine the public's trust in the medical profession', warned Dr Harry Hemley, President of AMA Victoria, a professional body representing doctors in the State.

The Committee said it did not want donors to be unreasonably affected by the release of information. It recommended donors should be given the option of placing a 'contact veto' should a pre-1988 donor conceived person lodge an application for information. The veto prohibits contact between the donor and donor-conceived person and would be backed by penalties for a breach. If not renewed, a veto would expire after five years and are revocable at any time by the donor.

Also included in its recommendations, the Committee called on the Victorian Government to introduce measures to ensure medical information about the donor is passed on to the donor-conceived person, and is shared with half-siblings, if there was a genetic or hereditary health risk.

It also recommends that non-identifying information about half siblings should be available to prevent people unknowingly starting a relationship with someone related to them. 46643, Counselling} and support services will also be provided to donors, donor-conceived people and anyone affected by donor-conception as part of the Committee's recommendations.

The Victorian Government has six months to respond to the Committee's report.

ABC News | 28 March 2012
Victoria Parliament Law Reform Committee | 28 March 2012
The Age | 29 March 2012
Victoria Parliament Law Reform Committee | 28 March 2012
The Australian | 28 March 2012
Sydney Morning Herald | 28 March 2012


14 March 2016 - by Professor Guido Pennings 
The State Legislature of Victoria has decided unilaterally to break their agreements with the sperm donors who donated before 1998 and will reveal their identity. It is difficult to imagine a measure that shows more disrespect for both donors and recipients...
06 July 2015 - by Rebecca Carr 
The Australian state of Victoria has revealed plans to extend rules removing donor anonymity to allow all donor-conceived people access to identifying information about their sperm or egg donor, irrespective of the donor's consent or when they donated...
22 April 2013 - by James Brooks 
A podcast produced as part of the When It Takes More Than Two project organised by the Progress Educational Trust...
03 December 2012 - by Ruth Retassie 
A British Columbia court has ruled that donor-conceived people do not have a constitutional right to know their biological origins and has reversed an earlier decision that would have effectively removed donor anonymity in the province....

27 February 2012 - by Dr Marilyn Crawshaw and Walter Merricks 
It is now eight years since the HFEA first issued guidance to UK licensed treatment centres to respond as fully as possible to patients' requests for non-identifying donor information...
20 February 2012 - by Julianna Photopoulos 
Lawyers representing British Columbia's government were at the Canadian province's Court of Appeal last Tuesday attempting to overturn an earlier ruling which would effectively end anonymous gamete donation...
05 September 2011 - by Dr Sonia Allan 
An Australian commercial television station recently ran a news story about a donor-conceived woman who has heritable bowel cancer (1). She did not inherit it from her mother. She is denied access to information about her sperm donor because he donated before laws in Victoria enabled information to be released to the donor-conceived. She cannot contact her eight half-siblings, who share that donor, to warn them they may be at risk...
06 June 2011 - by Professor Eric Blyth and Dr Marilyn Crawshaw 
The regulation of assisted human reproduction in Canada has had a long and tortuous history. Twenty one years after a Royal Commission appointed by the federal government recommended legislation (1), and following several failed attempts to get legislation through the Canadian parliament, the Assisted Human Reproduction Act 2004 came into force (2)...
14 March 2011 - by Ben Jones 
An Australian Senate Standing Committee has published a report calling for widespread updates to the law governing donor conception, including greater monitoring of compliance among clinics and practitioners and the development of new forms of oversight to support the current regulatory framework....


NHS watchdog not up to taking on HFEA's role

02 April 2012

By Dr Tamara Hirsch

Appeared in BioNews 651

A recent report claims England's regulator of health and social care, the Care Quality Commission (CQC), is not at present ready to take on the functions of the Human Fertilisation and Embryology Authority (HFEA). The report from MPs highlights the shortcomings in performance of the CQC and maintains it should improve effectiveness in its current practices before assuming responsibility for other organisations.

The House of Commons Public Accounts Committee described the CQC as 'poorly governed and led', and advised against the planned transfer of HFEA responsibilities in 2015. In giving evidence to the Committee, Professor Lisa Jardine, Chair of the HFEA, said that transfer of functions to the CQC would compromise the standard of regulation and may not provide value for money. The Department of Health (DH), which oversees the CQC, agreed to a 'pause' and full consultation before further decisions were made on the future of the HFEA.

Committee chair Margaret Hodge MP said: 'The CQC plays an absolutely vital role in protecting people from poor quality or unsafe care, but it has failed to perform that role effectively. It has clearly been struggling for some time and the Department of Health, which is ultimately responsible, has not had a grip on what the commission has been doing'.

According to the report, the DH underestimated the scale of the task when the commission was formed in 2009 which required the merging of three bodies at the same time as taking on an expanded role. The total budget for 2010/11 was lower than that of its predecessors and it actually underspent by £14 million due to delays in filling staff vacancies.

The report also detailed other major concerns in the CQC's performance, including its capacity to register and assess 10,000 GP practices later this year, and its provision of adequate public information on quality of care.

The CQC responded stating it was disappointed that the report didn't recognise the 'significant improvements' of recent months which the DH had called 'considerable achievements'. These were said to include an increase in the number of inspections and a tightening of its whistleblowing policy.

Care regulator has failed, say MPs
Press Association | 30 March 2012
ITV News | 30 March 2012
Care Quality Commission | 30 March 2012
Public Service | 30 March 2012
Guardian | 30 March 2012
House of Commons: Committee of Public Accounts | 30 March 2012


13 August 2012 - by Antony Blackburn-Starza 
The UK's regulatory body on the use and storage of human tissue has outlined its position in support of its continued existence amid the Government's review of arm's length bodies...
16 July 2012 - by Rachel Cutting 
At the Association of Clinical Embryologists - the professional body representing clinical embryologists in the UK and abroad – we have grave concerns about dissolving the HFEA...
09 July 2012 - by Professor Alison Murdoch 
Government intends to save money by improving the efficiency of regulatory bodies. Providers of fertility treatments also favour more efficient regulation as it would help them improve their own services. This common purpose - the need for improved efficiency - is reflected in the consultation announced by the government; the central question is how it should be achieved...
02 July 2012 - by Ayesha Ahmad 
The UK Government has launched a consultation on the future of the Human Fertilisation and Embryology Authority (HFEA) and Human Tissue Authority (HTA) amid proposals to transfer the regulators' functions elsewhere....
02 July 2012 - by Earl Howe 
Standards should never come into question, but it's clear to this Government that NHS administrative costs can be streamlined. That is why I set out proposals to change responsibility for regulating fertility treatment and human tissue last week...

19 December 2011 - by Sandy Starr 
The Public Bodies Bill - which empowers the UK Government to transfer the functions of the Human Fertilisation and Embryology Authority (HFEA), the country's regulator of fertility treatment and embryo research - has received Royal Assent and has become the Public Bodies Act. This Act represents the realisation in statute of the Coalition Government's longstanding plans for a 'bonfire of the quangos'...
12 December 2011 - by Oliver Timmis 
The Care Quality Commission (CQC) will take over policing of IVF clinics, despite worries it cannot cope with the additional workload...
24 October 2011 - by Walter Merricks 
Perhaps the Government is right to plan to abolish the Human Fertilisation and Embryology Authority (HFEA). The astonishing behaviour of its members at last week's open Authority meeting over compensation for egg and sperm donors will lower its reputation in the eyes of some of its erstwhile supporters. Those who might have manned the barricades to halt the Government's plans may now wonder whether the Care Quality Commission (CQC) – the health and social care regulator set to take over the H...
07 February 2011 - by Julianna Photopoulos 
The Human Fertilisation and Embryology Authority (HFEA) was once again the topic of a debate in the House of Lords on 1 February 2011. Following the proposed abolition of the HFEA and the Human Tissue Authority (HTA), Baroness Glenys Thornton asked how the UK government will maintain public confidence and patient safety....
02 August 2010 - by Dr Evan Harris 
In its quick review of Arm's Length Bodies, published last week, the Government announced the HFEA would be disbanded. The news was welcomed by some, criticised by others and the HFEA put out a fairly terse statement...


Legal challenge mounted to Oklahoma 'personhood' amendment

02 April 2012

By Rosie Beauchamp

Appeared in BioNews 651

Civil liberty groups in the USA have filed a legal challenge to the 'personhood' ballot initiative in Oklahoma, as a separate measure known as the Personhood Act progresses through the State legislature.

The Centre for Reproductive Rights (CRR) has filed a lawsuit at the Oklahoma Supreme Court to prevent a public vote on whether the constitution should be amended to define a fertilised egg as a 'person'.

The CRR, the American Civil Liberties Union (ACLU), and various local partners claim that the amendment would be unconstitutional as it infringes a woman's right to make decisions about abortion under the federal Constitution.

The pro-life ballot initiative was filed on 1 March by a group called Personhood Oklahoma, a state division of Personhood USA, which has until the end of May to collect the 155,000 signatures required to place the initiative on the ballot box in November.

The petition aims to amend Oklahoma's state constitution to define a person as 'any human being from the beginning of biological development'. The state attorney clarified this to mean the point of fertilisation, which he defined as the 'fusion of a female egg with a human male sperm to form a new cell'.

Opponents have raised concerns that the amendment could lead to a banning of abortion under all circumstances, including in cases of rape and incest or when a woman's life or health is at risk, as well as a ban on most forms of hormonal birth control such as IUDs (intrauterine devices) on the grounds that such procedures prevent implantation.

They also raised concerns that the amendment has the potential to impact a wide range of medical care and research, including treatment of ectopic pregnancy, IVF, stem cell research, and medical treatment for pregnant women.

Personhood USA president Keith Manson said: 'The opponents of personhood will stop at nothing to deny the people of Oklahoma their First Amendment right to petition the government on behalf of the preborn and ultimately recognise the most basic and fundamental human rights of the smallest and most defenceless people group'.

Meanwhile, the Personhood Act, a legislative measure to extend the definition of 'person' under State law to include a fetus from the point of conception, has passed the House Public Health Committee by seven votes to four. It will now proceed to a vote by the full House, having already been passed by the Senate in February.

A series of personhood amendments to state constitutions have failed in recent months, as reported in BioNews 646. However, last Thursday, the Ohio Supreme Court dismissed a suit filed by Healthy Families Ohio challenging Personhood Ohio's petition effort. Healthy Families Ohio argued that the ballot title, describing the effects of the amendment, was not a 'fair and truthful' description of the measure.

The lawsuit in Oklahoma was filed one day after a judge struck down a state law requiring women seeking abortions to be shown an ultrasound image and to listen to a detailed description of the fetus before the procedure.

Bill Information for SB 1433
Oklahoma State Legislature | 
Center for Reproductive Rights (press release) | 29 March 2012
Guardian | 29 March 2012
Tulsa World | 30 March 2012
Personhood USA (press release) | 29 March 2012
KRMG | 30 March 2012


03 September 2012 - by Dr Kimberley Bryon-Dodd 
A proposal to extend the definition of human life to 'all human beings at any stage of development' has failed to gain enough support to be put to a public vote in Colorado, USA...
08 May 2012 - by Dr Victoria Burchell 
The Oklahoma Supreme Court has declared void a ballot initiative that would have asked voters to expand the definition of a person in the state constitution to include human embryos and fetuses....

27 February 2012 - by Rosie Beauchamp 
The Republican controlled state Senate of Oklahoma passed the 'Personhood Act' by 34 votes to eight on 15 February. The Act moves to extend the definition of 'person' under State law to include a fetus from the point of conception...
21 November 2011 - by Dr Morven Shearer 
On 8 November the Mississippi electorate voted against an amendment to the Bill of Rights in their state Constitution which would have redefined life as beginning at the moment of fertilisation – the so-called 'personhood amendment' (Proposition 26)...
14 November 2011 - by Rachel Lloyd 
Voters in the US state of Mississippi have voted against a proposed constitutional amendment that would have defined life as beginning at fertilisation. The proposed amendment would have afforded embryos and fetuses – whether conceived naturally or artificially - similar legal protection as that covering all US citizens but was rejected by over 55 per cent of voters on 8 November...
03 October 2011 - by MacKenna Roberts 
On 8 September 2011 the Anscombe Bioethics Centre (a Roman Catholic organisation named after the philosopher Elizabeth Anscombe) organised the conference 'Human Embryo Research: Law, Ethics and Public Policy'. This was topical, in a month when it was announced that Europe's first clinical trials using human embryonic stem cells to treat Stargardt's macular degeneration (an incurable disease causing blindness in youth) would take place in the UK...


Positive results in motor neurone disease stem cell safety trial

02 April 2012

By Dr Linda Wijlaars

Appeared in BioNews 651

A clinical trial to test the safety of a stem cell treatment for amyotrophic lateral sclerosis (ALS), the most common form of motor neurone disease, suggests that the new therapy is safe and well-tolerated. Encouragingly, one of the 12 patients participating in the study showed some improvement, although the trial was not designed to test the treatment's efficacy.

The technique uses neural stem cells - which normally develop into nerve cells - taken from a single eight-week-old embryo. These are injected into the lumbar region (lower back) of patients' spines.

Professor Jonathan Glass, of Emory University Medical School in the USA, and the lead author of the study, said: 'For these first 12 patients, we have met the objective of the trial, demonstrating safety for both the procedure of intraspinal injection and the presence of the neural stem cells in the spinal cords of ALS patients'.

In the trial, the researchers used a 'risk escalation' design where the first patients treated would have the least function to lose should the operation have led to serious complications.

Patients were split into groups of three, with each successive group being exposed to an increasing risk. The first group consisted of patients who had lost the ability to walk, and they received injections on only one side of their spine. The following groups consisted of patients who were injected on both sides of their spine, and who could walk. In the last group of patients, one patient showed improvement after treatment.

Although some side effects were observed, these appeared to be due to the immunosuppressive drugs patients were prescribed rather than the stem cell injections. The published study includes data from patients up to 18 months after the original surgery.

NeuralStem, a US biotech company, designed the neural stem cell treatment. Dr Karl Johe, NeuralStem chairman, and co-author of the study said that the study showed that the company's 'experience in the lumbar spinal cord has been overwhelmingly positive'. He added that the company was already trialling its therapy in the cervical spinal cord (the neck area) to better treat the breathing problems of ALS patients.

However, Dr Eva Feldman, director of research at the ALS clinic at the University of Michigan Health System, who was involved in the study said: 'We must be cautious in interpreting this data, as this trial was neither designed nor statistically powered to study efficacy'.


01 August 2016 - by Jenny Sharpe 
Donations from the ALS 'ice-bucket challenge' have funded research that has led to the discovery of new genes linked to the disease...
05 October 2015 - by Hannah Somers 
Reactivation of an ancient virus embedded in the human genome may trigger the onset of motor neurone disease...
27 October 2014 - by Dr Shanya Sivakumaran 
A man who was paralysed from the chest down has begun to walk again, with the use of a frame, following the transplantation of cells into his spinal cord...
13 October 2014 - by Rhys Baker 
The US Food and Drug Administration (FDA) has awarded 'fast-track' status to a potential stem cell therapy for Amyotrophic Lateral Sclerosis (ALS), or motor neurone disease...
22 April 2013 - by Matthew Young 
A neural stem cell therapy aimed at treating the symptoms of amyotrophic lateral sclerosis (ALS) is set to advance in the USA, after the Food and Drug Administration (FDA) gave its approval for it to proceed to the next stage of clinical trials...

28 November 2011 - by Dr Marianne Kennedy 
On 18 November, Richard Grosjean became the first patient to receive a pioneering stem cell treatment in the upper part of the spinal cord. His procedure is part of an ongoing US-based clinical trial aimed at assessing the safety of injecting neural stem cells taken from eight-week-old fetuses into the spinal cords of patients with amyotrophic lateral sclerosis (ALS)...
28 September 2009 - by Dr Marianne Kennedy 
The US Food and Drug Administration (FDA) has granted approval to NeuralStem Inc., a Maryland-based biotherapeutics company, to conduct the first human trial using neural stem cells for treatment of amyotrophic lateral sclerosis (ALS). ALS is a type of motor neuron disease often referred to as 'Lou Gehrig's' and 'Maladie de Charcot'. The late-onset condition, of unknown cause, affects approximately two in 100,000 people, including the UK physicist Stephen Hawking and US rock gui...
16 October 2006 - by Dr Jess Buxton 
US researchers have used human stem cells to lessen the symptoms of motor neurone disease in rats bred to have symptoms of the condition. The scientists, based at Johns Hopkins University, Baltimore, showed that injecting fetal nerve stem cells into the spines of rats with amytrophic...
21 September 2005 - by BioNews 
US scientists have used nerve stem cells to treat mice affected by severe spinal cord injuries. The team, based at the University of California at Irvine, said the treated animals regained the ability to walk just a few weeks after receiving the injections. The findings, published in the Proceedings of...


Book Review: The Two Week Wait

02 April 2012

By Rachel Lloyd

Appeared in BioNews 651

The Two Week Wait

By Sarah Rayner

Published by Picador

ISBN-10: 0330544098, ISBN-13: 978-0330544092

Buy this book from Amazon UK

'The Two Week Wait' by Sarah Rayner

As I sit at my computer on this glorious Sunday morning to write this review, I suddenly realise the coincidence of the day: it is Mother's Day. Today of all days it seems very apt to be writing a review of Sarah Rayner's novel about two women and their quest to become mothers.

'The Two Week Wait' follows the lives of Lou and Cath and their respective journeys to have a child. They are very different people, at very different stages in their lives, but their desire to have a child binds their fates closely together.

Lou is a school counsellor and lives with her partner Sofia in Brighton. After a health scare, Lou realises that her biological clock is ticking and that she wants to become a mother. But her partner Sofia, being a lot younger than Lou, is not keen on the idea of having children. So Lou must ultimately choose between her relationship and motherhood. She chooses motherhood. But she cannot have a baby on her own.

Cath is a happily-married gallery worker, in her forties and living in Yorkshire. Having been given the all-clear after her cancer treatment, Cath is finally ready to broach the subject of having a child with her husband, Rich. However, part of her cancer treatment involved removing her ovaries, so she is unable to produce eggs of her own. But she is desperate to have a baby.

Both women turn to a fertility clinic in London in search of a solution. And it is here that their journeys become linked. Lou is unable to afford the IVF treatment she will need, so turns to egg-sharing as a way of subsidising her treatment. And Cath needs an egg donor in order to become pregnant.

What follows is a well researched and well thought-out story of the shared heartaches and battles that these women face on their journeys to motherhood. And how, even though they go through their journeys as two separate women and will never meet, they still feel a connection to the other: their 'mirror woman'.

The detail Rayner provides on the procedures the women go through, the agonising wait that they must endure and the rollercoaster of emotions that they encounter, leaves the reader very well informed on what might be involved in undergoing fertility treatment. Moreover, in providing a balanced overview of the topic, Rayner cleverly uses each character to reflect society's differing opinions on women's use of reproductive technology as an aid to having a baby. We read not only about the potential mothers' opinions, but also those of the potential fathers, the families and those opposed to the women's decisions. This is perhaps the great strength of the book. Rayner has not shied away from providing the reader with the different moral and ethical viewpoints of fertility treatment.

'The Two Week Wait' is both an educational and emotional read. Being in the 'chick-lit' genre, it serves well as a platform for informing a different type of audience on this area of technology. It includes detail of the emotional, financial and possible health implications that can be faced by those undergoing egg-sharing and IVF treatment. It might even change some people's assumptions on the topic. Furthermore, I think the issue of egg-sharing is one that is not as well documented as it could be, so I applaud Rayner for her insight into such a relatively unknown area of reproductive technology.

Buy The Two Week Wait from Amazon UK.



25 March 2013 - by Gisela Lockie 
Every page of this slim volume (nice and short if you are already on information overload), is packed full of sound tips and advice that cut to the chase, from one who knows, both from personal experience and as an experienced fertility coach...
13 August 2012 - by Gisela Lockie 
I'm sure I'm not alone in thinking that 'Having your baby through egg donation' could happily serve as an egg donation bible. It successfully brings together all the practical, physiological, psychological, social and ethical aspects of this particular form of family building....
30 April 2012 - by Dr Berenice Golding 
An illuminating insight into the experiences of those who have used IVF, Brigid Moss' 'IVF: An emotional companion' is both informative and easy-to-read. A combination of case studies, personal reflections and expert opinions from clinicians, academics, alternative therapists and counsellors support the issues discussed. Because of its accessible format, the book would be of interest to those considering IVF or indeed those further along in their treatment...

24 October 2011 - by Professor Dame Marilyn Strathern 
'How far should society go in encouraging people to donate their bodily material?' is the question at the heart of the Nuffield Council on Bioethics' report on the ethics of donation for medicine and research, which was published earlier this month...
22 September 2008 - by Dr Nataly Atalla 
The removal of anonymity in 2005 led to a reduction in the already-insufficient number of altruistic egg donors coming forward in the UK. This, combined with a strong trend towards parenthood at an older age, leads hundreds of British women to go abroad each year for treatment with donor eggs...
14 January 2008 - by Dr Rebecca Robey 
A UK fertility centre has launched a scheme to provide women with cut-price IVF treatment in return for donating some of their eggs to research. The 'egg-sharing' initiative is being offered by the Newcastle NHS Fertility Centre and the North-East England Stem Cell Institute (Nesci) and will...


Report Review: Consumer Genetic Testing

02 April 2012

By Ruth Saunders

Appeared in BioNews 651

Consumer Genetic Testing

By Dr Peter Border and Dr Ana Padilla

Published by the Parliamentary Office of Science and Technology

Download the report (.pdf 270KB) from the Parliamentary Office of Science and Technology website

'Consumer Genetic Testing' by Dr Peter Border and Dr Ana Padilla

Last week the Parliamentary Office of Science and Technology (POST) released a POST Note - a guide for MPs and other parliamentarians on science and technology issues - on consumer genetic testing.

Consumer or direct-to-consumer (DTC) genetic testing services appeared on the market over a decade ago and can be used to test for a range of common and complex diseases, potential drug responses, as well as to investigate ancestry.

The Note covers several key legal, ethical and scientific issues raised by DTC genetic testing for predisposition to disease. It warns of the questionable scientific validity of the tests themselves and the potential for misleading information and marketing schemes online.

It also raises the concern that customers may misunderstand the interpretation of their genetic data, in turn burdening the NHS's already overstretched clinical genetic services with visits from worried DTC users. Furthermore, it notes that there are implications for third parties, such as family members.

The Note highlights the lack of effective regulatory protections governing the provision of DTC genetic tests in the UK, the EU and the USA - important because a large proportion of the DTC market is based in the USA, and UK customers can access them online.

As the tests are mostly 'in-house' or laboratory developed tests they fall into the low-risk category of the EU's In Vitro Diagnostics Directive and equivalent US federal regulation. This excludes them from any pre-market approval that would ensure their clinical utility or validity.

The Note predominantly focuses on the lack of provisions to ensure proper customer consent, the correct interpretation of test results, or the appropriate genetic counselling. However, at the same time, it acknowledges the need to encourage innovation in the market and access to genetic technologies.

While it is a useful and comprehensive overview of the literature and policy recommendations to date, I have some concerns about its approach.

First, it is unclear why the Note singles out genetic testing for diseases or conditions. It states that these tests 'have aroused [the] most interest'. If it is referring to consumer interest this is, perhaps, misleading as it is widely acknowledged that other services such as ancestry testing have proved the most popular.

Second, as one commentator astutely put it: 'The harsh truth [is] that, as it turns out, most genetic risk information just is not that predictive'.

It is therefore illogical to restrict discussion of DTC tests to mirror the concerns, policies and practices involved with the genetic tests provided on the NHS, as these have been vetted for their clinical validity and utility.

There is growing evidence to suggest that medical use isn't the only measure of the value of genetic tests. More people are becoming interested in the tests, and the accompanying online social networking forums, for their purely scientific and recreational nature.

Other studies of consumer perceptions have found that, on that whole, customers understand the limitations of genetic risk estimates provided online. Instead, I think the focus should be on ensuring truth in marketing, and accuracy in genetic information.

Third, the Note suffers from over-generalisation. Like any consumer market there are examples of rogue 'garden shed' genetic testing services which pose a threat to consumer interests, but this overlooks the reputable companies. Take 23andMe, who have over 100,000 customers and have introduced policies and practices to address some of these concerns. These include comprehensive information pages on the diseases and conditions they test for, and the creation of established criteria to ensure consistent and accurate reporting of gene-disease association.

In order for discussion of DTC genetic testing to move forward in a coherent, fair, and productive manner, there needs to be more focus on the consumers' perceptions, company practice and the market itself. We should not restrict our frame of reference to clinical and health-related policies and practices.

23 and Me | 
Clinical Genetics | 10 November 2011
UK Parliament | 15 March 2012


14 December 2015 - by Andelka M. Phillips 
There is now a huge range of direct-to-consumer genetic tests on the market, but the public ought to be wary of what exactly they are agreeing to when they sign up for these services...
16 November 2015 - by Lone Hørlyck 
The US Food and Drug Administration has sent warning letters to three gene-testing companies over the marketing and selling of what it claims are direct-to-consumer gene testing products without its approval...
11 March 2013 - by Matthew Thomas 
Commercial DNA tests claiming to reveal people's ancestors are little better than 'genetic astrology', according to scientists...
04 March 2013 - by Reuben Harwood 
If asked to describe Eddie Izzard, your reply may include the words actor, comedian, transvestite and marathon runner. Well, now you can add 'part Neanderthal' to the list...
20 August 2012 - by Ruth Saunders 
23andMe, a US-based personal genomics company, has sought regulatory approval from the Food and Drug Administration for seven of its genetic tests....

03 October 2011 - by Dr Vivienne Raper and Ruth Saunders 
'We are not our genomes'. Lone Frank, the author of 'My Beautiful Genome – Exposing our Genetic Quirks, One Genome at a Time' spoke to BioNews about her latest book, the recent surge in direct-to-consumer genetic tests, the ethical dilemmas they could pose and what we can understand from such tests. As he says, 'genetics is a work in progress'...
08 August 2011 - by Dr Rebecca Hill 
'The age of personalised medicine: genes, privacy and discrimination?' was the last in BioCentre's 2010/2011 symposium series 'Revolution, Regulation and Responsibilities', and promised to 'appraise current developments and consider the current legal and regulatory position for their use before taking time to reflect and assess the future impact on society'...
06 June 2011 - by Rosemary Paxman 
Direct-to-consumer (DTC) genetic tests provide an inaccurate prediction of disease risk and offer little benefit to consumers, scientists claim...
09 August 2010 - by Chris Chatterton 
The Human Genome Commission (HGC) has published a new ‘Common Framework of Principles’ for direct-to-consumer (DTC) genetic tests on 4 August....



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