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The Human Genetics Commission (HGC) and the UK National Screening Committee (NSC) have rejected a proposed national scheme to collect a DNA profile of every baby at birth, the BBC has reported. The Joint Working Group, formed by members from both organisations, concluded that while genetic profiling might provide clinical benefits in the future, at the moment the scientific evidence is limited. They recommend that the government revisit the issue in five years. The group had been tasked, as part of the Genetics White Paper, to consider the positive and negative aspects of the genetic profiling of babies at birth. Their report, Profiling the newborn: a prospective genetic technology?, has now been published.
Profiling was defined as, “…the analysis of a person’s entire genome in order to reveal the majority of the genetic variations.” The Working Group concluded that given the current state of scientific and medical knowledge that it was not practicable for this scheme to go forward at this time. The report states that, “…this is not likely to be affordable in the public health context in less than 20 years. It also raises a number of important ethical, legal and social issues which need to be addressed before any such scheme could be acceptable.” For example, there is a concern that information that came from the profile could be used in the future to discriminate against individuals in the areas of employment, insurance and education. The police might also use the information “…for unwarranted purposes.” If such a profile were to be collected from newborns, the information it contained would need to be adequately protected from misuse.
In the meantime, they believe that regulation might be needed in the commercial sector. Genetic profiling is feasible and companies are already offering it on an individual basis, raising issues such as the provision of genetic risk information to children. The Working Group does see the potential for genetic profiling to be of clinical use in the future but calls for further research into its implications. Research is also needed into genetic testing in children and into public attitudes on this issue. The results of such research would give reviewers a better understanding of the implications of genetic profiling when it is next considered. - 2/4/05 Dr Susan Wallace
The Law Lords have upheld an earlier court decision that the Human Fertilisation and Embryology Authority (HFEA) acted lawfully in permitting the Hashmi family to use pre-implantation tissue-typing to select tissue matched embryos for their son (see BBC news report). Zain Hashmi suffers from the serious genetic disorder beta thalassaemia major, requiring regular blood transfusions and drug treatment to keep him alive; his parents received permission from the HFEA to proceed with treatment to select embryos that were a tissue match for Zain, so that stem cells from the newborn child’s umbilical cord could be used for transplantation into Zain, and potentially cure him. The couple went ahead with the treatment, although thus far Mrs Hashmi has miscarried all the babies implanted after tissue selection. The High Court had originally imposed a ban on the Hashmis’ treatment in December 2002, but this was overturned in the Court of Appeal in 2003. The group Comment on Reproductive Ethics (CORE) then asked the House of Lords to examine the Human Fertilisation and Embryology Act (1990) to determine whether such tissue-typing was legal. Five Law Lords yesterday ruled unanimously that the HFEA had acted “lawfully and appropriately” in granting a licence to the Hashmis, as there was no legal basis for limiting the authority's power to permit screening of embryos for genetic disorders.
Josephine Quintavalle of CORE commented: “The Law Lords have in effect stated that unless there are specific prohibitions to the contrary, the Human Fertilisation & Embryology Authority (HFEA) can do whatever it pleases. This is not simply about babies being created in the laboratory as tissue matches, but the creation of babies of the right sex, hair colour, intelligence, and so on. Whatever the mother deems to be suitable in an embryo is what she can ask for, according to today’s interpretation of the law…This judgment effectively endorses the terrifying designer baby scenario which our country rightly abhors”. Law Lord Brown of Eaton-Under-Heywood said that: "In the unlikely event that the authority were to propose licensing genetic selection for purely social reasons, Parliament would surely act at once to remove that possibility" (see Telegraph report). The HFEA stated that they were "pleased with the clarity that this ruling brings for patients".
The BBC has reported that geneticists in Manchester are concerned that women are claiming a false family history of breast cancer in order to get treatment (see BBC news story). Treatment can include the removal of their breasts. Such women may be suffering from a psychological disorder similar to Munchausen’s Syndrome by Proxy. People suffering from this syndrome may fabricate or induce illness in order to receive attention and treatment. The number of women fabricating their family history in this way is small, an estimated 1% of patients. However, as the genetic basis of other diseases is discovered, one might ask whether this phenomenon will increase.
Worryingly, geneticists are unable to verify the family history claimed by patients because of restrictions imposed by the Data Protection Act 1998 regarding consent. If a patient will not consent to allowing a doctor to access the appropriate medical records, their family history cannot be confirmed. Patients may then undergo unnecessary surgery and family members might be led to believe they have an increased risk of cancer themselves. As Professor Gareth Evans, consultant in medical genetics at St Mary’s Hospital, Manchester, told the BBC, ‘What we are concerned about are people who actually are fabricating it, know they’re fabricating it, and they’re the last people who are actually going to sign a consent form that’s going to let you find out that they haven’t actually had what they say they’ve had.’
The first of April marks the end of anonymity rights for people donating sperm and eggs. As reported by the BBC, children conceived through donations made after 31 March 2005 will have the right, at age 18, to have details about their genetic parent. That means the first requests cannot be made to the Human Fertilisation and Embryology Authority (HFEA) until 2023. Donations made prior to 1 April continue to fall under anonymity rules.
The rules for anonymity were changed when the Human Fertilisation and Embryology Authority (Disclosure of Donor Information) Regulations 2004 came into force in July 2004. The Regulations require that an applicant, such as an individual who was born through the use of donor eggs or sperm, can request detailed information about the donor from the HFEA, if that donation takes place after 31 March 2005. In addition to identity, the applicant can ask for the sex, height, weight, ethnic group, colour of skin, country of birth and marital status of the donor. The applicant can ask if the donor was adopted, the donor’s personal and family medical history, and what screening tests have been carried out on the donor. They can also ask about the donor’s children, the donor’s religion, and why the donor donated their eggs or sperm.
Concern has been raised as to whether the removal of anonymity for donors will inhibit people from donating. In a speech by Melanie Johnson, MP, she noted that there are many views on both sides of the issue (see PHGU newsletter January 2004). In some countries, while there may have been an initial drop in donors, the rates did improve with a shift to people who were more comfortable with the idea of being contacted. She also raised the question of whether it was right to withhold genetic information being held in a database from donor-conceived people, when those who are adopted are able to access information about their genetic parent. However, Dr Alan Pacey of the British Fertility Society, while citing the Society’s support of the removal of anonymity, cautioned in a press release last year that people might seek fertility services overseas if the donor rate does drop and donations become scarce. Education is needed to encourage donors; the National Gamete Donation Trust has been running a campaign, Give Life, Give Hope, to educate and encourage potential donors.
The Department of Health (DH) has announced the membership of the Human Tissue Authority (HTA). They are:
The HTA came into existence as of 1 April 2005, created as required by the Human Tissue Act 2004, which comes into force 1 April 2006. According to the DH, “The HTA will be the regulating authority for matters relating to activities such as anatomical and post-mortem examinations, transplantations and the storage of human material for education, training and research.” It will also act as the competent authority for the EU Tissue and Cells Directive, adopted in April 2004. The HTA will be responsible for writing Codes of Practice to implement the Act and the Directive, covering issues such as consent; definition of death; existing holdings; removal, storage and disposal of human tissue; and import and export of human tissue and organs.
The DH plans, in 2008, to combine the work of the HTA with that of the Human Fertilisation and Embryology Authority (HFEA) to create a new authority, the Regulatory Authority for Fertility and Tissue (RAFT), that will be responsible for the regulation and inspection of a wide range of uses of human tissue. However, RAFT’s proposed remit may change due to ongoing discussions. The House of Commons Science and Technology Committee’s recent report on Human Reproductive Technologies and the Law recommends that RAFT take on only the oversight of technical standards and quality management in regards to assisted reproduction. An expanded version of the Human Genetics Commission would be responsible for advising Government on relevant developments in treatments and research, a role currently held by the HFEA. The DH has announced they are conducting a review of the Human Fertilisation and Embryology Act 1990 with a public consultation exercise to be conducted in 2005. They will be considering the recommendations of the Select Committee as well as submissions from interested parties. Comments can be sent to review-hfe-act@dh.gsi.gov.uk.
The National Geographic Society and IBM Corporation have teamed together to launch the Genographic Project, a 5-year project to trace human history [Pennisi E, (2005) Science 308,340]. Spencer Wells, of the National Geographic, will lead the project. Ten teams will collect approximately 100,000 human DNA samples from 1000 indigenous populations. Information from DNA from preserved human remains will also be collected. From this data, patterns of human migration will be determined. The project’s website already has an interactive Atlas of the Human Journey, which provides information on data already known about human migration as well as theories being explored. Estimated at approximately $40 million, the project costs will be split between National Geographic, IBM and the Watt Family foundation.
In addition, individuals can become involved in the project as well. For $99.00, interested people can buy a Public Participation Kit. They are asked to swab the inside of their check and return the DNA sample. Participants receive information on the material or paternal genetic markers passed to them by their ancestors. Participants can track the progress of their sample, through the use of an anonymous code. They will be given their results on line and can see how their lineage integrates with the project as a whole. By answering some additional ‘phenotyping’ questions that will “help place your DNA in cultural context,” participants can add their data to the project’s global database. The project website reminds potential participants of the limitations of their participation. “This is not a genealogy test and you won't learn about your great grandparents. You will learn, however, of your deep ancestry, the ancient genetic journeys and physical travels of your distant relatives.”
Elizabeth Pennisi notes in her article that there similarities between this project and the Human Genome Diversity Project (HGDP), a project that faced difficulties several years ago when indigenous groups feared researchers collecting their tissue and DNA would exploit that information for commercial gain. The Geographic Project states that they will not conduct biomedical research with its data and so may avoid some of the problems faced by the HGDP. However, ethical and practical concerns may be raised about the gathering and use of the participant samples. While the website makes clear that samples will not be tested for “health, health status or any inherited health conditions,” no information is given on ownership of the samples and what will happen to them. For example, are there plans to destroy the samples after the project ends? In addition, one problem may affect the range of participants samples the project might receive – the website acknowledges that in some countries, such as China, the export of genetic material requires government approval. They note that ways will need to be found to ensure the broad level of participation needed to produce their survey of the world’s populations.
11 April 2005The Department of Health (DH) has announced that the Gene Therapy Advisory Committee (GTAC) has published their eleventh annual report at their annual public meeting in Manchester. The report gives details on the eleven gene therapy trials GTAC has approved in 2004, together with summaries of completed gene therapy trials and an analysis of 96 trials that have been carried out in the UK. The new trials focus on cancer, HIV and coronary heart disease. Over 70% of all applications to GTAC are for trials focusing on cancer, including colorectal cancer, prostate cancer, leukaemia and breast cancer. The DH is proud of its leading position in Europe in this field. The Health Minister, Lord Warner, stated in the press release that, “The government is committed to ensuring that the UK remains at the forefront of innovative medical research and has provided the funding towards new gene therapy clinical trials for inherited diseases such as Duchenne Muscular Dystrophy, cystic fibrosis and childhood blindness.” GTAC is likely to consider these new trials in 2005 or 2006.
The first gene therapy trial was approved in 1993. Gene therapy is described by the DH as involving, “…the deliberate introduction of genetic material into human cells for therapeutic, preventative or diagnostic purposes.” While progress has been slow, Prof Norman Nevin, Chairman of GTAC, notes in their report that some trials have shown promise, such as immunotherapy in cancer treatment. “My view is that we are beginning to learn more and more about the circumstances in which gene therapy may ultimately provide an alternative treatment strategy.” GTAC acts as the UK national ethics committee for gene therapy trials; no trial can go forward until it has been approved by GTAC as meeting the ethical criteria for research involving human subjects. GTAC also advises the government on developments in gene therapy research.26 April 2005 The House of Commons Select Committee on Health has concluded that patients are failing to benefit from new medical technologies due to the way the NHS is structured, how it makes decisions about purchasing and implementing new equipment and training, and the lack of coordination between health and social services. The Committee heard evidence from a number of organisations including the National Institute for Clinical Excellence, medical devices manufacturers and a number of patient groups. The report particularly highlighted the potential for telemedicine in clinical care provision. Telemedicine uses telecommunication, such as by videoconferencing, to provide diagnostic and therapeutic medical information between patient and doctor without either of them having to travel. It therefore has a range of advantages such as improving access to healthcare, reducing unnecessary travel, and linking medical specialists across regions. The Committee recommended that NHS Trusts provided more organisational and staff development to ensure that this technology was utilised, as well as identifying ‘clinical champions’ to promote it.
The report acknowledged that the Department of Health had recognised the benefits of new medical technologies, but progress in applying them had been slow. The seven hundred Trusts that collectively form the NHS had different and inconsistent policies and practices on new technology development, application and purchase, best practice was not available across the country and NICE recommendations were adopted very unevenly. Even where a technology has been recommended by NICE, the large number of 'entry points' into the NHS through Trusts resulted in the technology being evaluated locally, causing delays and duplication. The report also highlighted the gap between health and social care services and how the costs and benefits of the new technology were not being equally shared between these sectors. The NHS appeared reluctant to engage with a technology that was preventative and involved the management of vulnerable groups remotely, as this was generally seen to benefit those involved in the provision of social services and care. The Committee recommended that “greater effort should be made to strengthen the links between health and social services to ensure the roll out of these technologies in domestic and community settings is undertaken more effectively than at present”. The Committee’s other recommendations also built on the conclusions and recommendations of the recently established Healthcare Industries Task Force, a group that brings together Government and the medical technology industry.22 April 2005The past few months have seen a number of new announcements made concerning funding for stem cell research in the UK and internationally. In March the Department of Trade and Industry announced the allocation of £1billion of funding to the life science and biotechnology sector. This allocation is from the £10billion science budget agreed in the 2004 Spending Review. It furthers the Government’s commitment to science and innovation that was initially outlined in the ten-year investment framework. The new allocation specifically covered areas such as stem cell research and bio-processing. Some of the additional funding will increase the budgets of the MRC and BBSRC, as well as assist UK universities collaborate with business and create new companies to exploit their research.
The EU has also allocated €12billion to a pan-European stem cell research collaboration involving groups in the UK, Sweden, Germany, Italy, France and Finland, which will investigate the therapeutic potential of human embryonic stem cells. However, some of the home nations of the scientists involved, such as Italy and Germany, have restrictive national legislation governing this type of research. This may lead to their representatives within the EU seeking to delay the project, or to remove their scientists from it completely. The confusion over the future of the project follows the recent decision by the European Parliament to change legislation governing the funding of embryonic stem cell research (see earlier story). This change proposes that embryonic stem cell research should be funded from the national budgets of member states where the research is legal and not by the EU. However the resolution has not been adopted by the European Commission and is not specifically mentioned in its recent announcement of the 7th Research Framework Programme.11 April 2005NICE (formerly the National Institute for Clinical Excellence) became the new National Institute for Health and Clinical Excellence on 1 April 2005, taking on the additional functions of the former Health Development Agency to create a single organisation responsible for providing national guidance on the promotion of good health and the prevention and treatment of ill health. This falls into three areas: public health, health technologies and clinical practice, under the control of the Centre for Public Health Excellence, the Centre for Health Technology Evaluation and the Centre for Clinical Practice, respectively.
NICE has launched a public consultation on the Centre for Public Health Excellence (CPHE) and how it will produce public health guidance. This is available from the NICE website until 10th June 2005. Broadly, guidance will relate either to specific public health interventions, or broader public health programmes, to prevent disease or improve health at population, community, organisational, group, family or individual levels. Genetics is not specifically mentioned in the consultation document, but it is stated that guidance produced by the CPHE will “recognise the wide spectrum of determinants of population and individual health”.
28 April 2005Celera Genomics, the private company that released details of the human genome sequence simultaneously with the publicly funded Human Genome Project (HGP), has announced that their genome database subscription business will be terminated. The company, originally set up by the scientist Dr Craig Venter, was the subject of major controversy as it planned to sell human genome information; critics argued that it was unethical not to place such important data in the public domain. The Celera Discovery System reportedly had around 25 corporate and 200 academic subscribers at its peak (see New York Times report), but profits from the venture were much lower than originally anticipated, largely due to the freely available HGP data; in recent years the company has moved to focus on developing novel therapeutics instead.
30 billion base pairs of Celera data on human, rat and mouse genome sequences will now be made available for public access from July 2005 via the National Center for Biotechnology Information, although some proprietary data that is being used for the development of novel diagnostics will be retained. Dr Francis Collins, Director of the National Human Genome Research Institute (NHGRI), which led the international HGP, welcomed the move as a "wonderfully generous contribution" and a "strong endorsement of this kind of information ultimately being accessible to anybody". The animal genomes will be of particular value to the research community, because they are different strains from those sequenced by public sector initiatives, and the human data will useful for the further validation of HGP data.
26 April 2005The European Commission has released a memo explaining its approach to ethical issues in funding projects under the proposed Seventh Framework Programme (FP7). This was prompted by questions of how controversial research, such that involving embryonic stem cells, will be considered under FP7. The Commission cites two statements in its FP7 proposal. Recital 25 reads, “Research activities supported by this Framework Programme should respect fundamental ethical principles, including those reflected in the Charter of Fundamental Rights of the European Union. The opinions of the European Group on Ethics in Science and New Technologies are and will be taken into account.” Secondly, Article 6 states, “All the research activities carried out under the Seventh Framework Programme shall be carried out in compliance with fundamental ethical principles.”
As for human embryonic stem cell research, the memo reiterates how funding is conducted under the current FP6 programme. It confirms that the European Union (EU) will not fund any research “…that involves human reproductive cloning, the creation of embryos for research (or therapeutic cloning) or any research that would alter the human genetic heritage.” The EU will not fund research in the Member State that is illegal in that State and funding priority is given to projects involving adult stem cells. Funding is available for projects that involve deriving and using human embryonic stem cells (HESC) from embryos ‘left-over’ from in vitro fertilisation procedures. The donors must have given explicit consent for their embryos to be used in research. However, the Commission notes that very little of the FP6 budget has been spent on this type of research. Only two projects have been funded, totalling approximately €500,000 and only 0.002% of the FP6 budget. On the other hand, the Commission is eager to fund the set up of a European registry of existing HESC lines, along the lines of the registry at the US National Institutes of Health. The Commission supports such a registry as it, “…would allow an ethical tracking of existing HESC lines in Europe and their optimal use.” While proposals have been received, they have been judged to be of ‘insufficient quality’ and the call for proposals has been reopened.
The memo does not indicate how or if it will fund HESC research under FP7. The European Parliament has already entered into this debate by passing a resolution in March 2005 calling for the specific exclusion of 'human cloning' from funding under FP7 and for embryonic stem cell research to be funded by the national budgets of Member States in which this research is legal and not by the EU (see PHGU newsletter article earlier this month). The Parliament also believes that EU funding should be focused on alternatives to HESC research, such as adult stem cell and umbilical cord stem cell research. A timeline on the FP7 website shows that there will be further discussions regarding FP7 before its launch at the end of 2006. - Dr Susan Wallace