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10 February 2006The European Commission has finalised the first set of requirements supporting the EU Tissue and Cells Directive (2004/23/EC). Commission Directive 2006/17/EC sets out technical requirements for the donation, procurement and testing of human cells and tissues. A second draft Directive, covering the coding, processing, preservation, storage and distribution of human tissues and cells, is expected to be finalised later this year. Together these will set out the rules that Member States will need to follow to ensure the quality and safety of tissue and cells used in the manufacture of medicinal products, as using human tissues and cells in treatments raises the possibility of the transmission of disease or other adverse effects. Therefore the Commission has laid out rules in order to reduce the risks to patients. All tissues and cells used as starting material in the manufacture of medicinal products must meet these quality and safety requirements.
The Directive covers many issues. For example, donations of tissues and cells that will be processed, cultured or stored must undergo biological testing to ensure the safety of the donated tissue or cell. For partners in an intimate relationship, biological testing requirements will be less stringent. Donors must meet selection criteria; reasons for exclusion include if the person is deceased and the cause of death is unknown or if a blood sample is positive for an infectious disease. Consent must be obtained from the donor and the health professional taking the person’s health history must ensure that the donor has understood the information provided, had an opportunity to ask questions, and confirmed that the information provided is accurate. There must be a complete record kept for each donor as the parent EU Tissue Directive requires that donations must be traceable to the donor for a minimum of 30 years. This includes the designation of a unique identifying code for each donor and donated tissues and cells.
This Commission Directive must be transposed into UK law by November 2006. The Human Fertilisation and Embryology Authority (HFEA) has been working with its licensed establishments (that handle reproductive tissues) to prepare for the transposition. The Human Tissue Authority, which has responsibility for licensing tissue establishments that store non-reproductive tissues, will also be working to ensure its establishments are compliant with the new requirements. New UK regulations will be needed to amend the applicable UK law and, according to the HFEA, these are expected to be issued for consultation in mid-2006.
20 February 2006A new, publicly accessible resource, the Genetic Association Information Network (GAIN) has been launched this month. The network is a public-private partnership of the Foundation for the National Institutes of Health, Inc (FNIH), a venture between the US National Institutes of Health (NIH) and Pfizer Global Research & Development. The Network is intended to include academic centres, corporations, private foundations, advocacy groups and philanthropists, and is seeking funding from such groups.
Its aim is to advance understanding of the genetic factors that influence risk of common, complex diseases such as diabetes, asthma, depression and cardiovascular disease, via whole genome association studies using samples from existing case-control studies of common diseases. It is hoped that this information will be of value in developing preventative, diagnostic and therapeutic strategies for disease. Specifically, GAIN is “intended to enhance and extend the utility of existing case-control (or trio) studies of common diseases by providing genotyping services to aid in the identification of genetic risk factors”.
Unlinked genotypic data from projects is to be made freely accessible to all, with equal accessibility to linked genotypic and phenotypic data for all qualified users, although this will require approval from GAIN.
27 February 2006A group of about 60 leading international scientists, journal editors, regulators and bioethicists has published a consensus statement calling for an international set of ethical standards in stem cell research. The statement came out of a three-day meeting held recently in Hinxton, Cambridgeshire. Organisers had planned the meeting before the news of the fabrication of stem cell data by Korean researchers. However, in light of those events, meeting participants had many timely issues to discuss.
The consensus statement affirms the participants’ belief that stem cell and related research holds out the promise of new treatments for serious disease and injuries. However, they acknowledged that there is a diversity of opinion on some its elements. Across the world, countries, and states within countries, have instituted a variety of different policies, regulations and laws to govern stem cell research. There is often conflict between these different systems of governance that, according to the statement, hinders international collaborative efforts. Therefore the participants have recommended some principles that should govern the ethical and legal regulation and oversight of stem cell and related research. For example, laws and regulations governing the science should be flexible so as to accommodate scientific advancements; as well as clear enough to enable researchers to understand what is and is not permitted so that they can conduct their work accordingly. Also, journal editors should encourage authors to clarify their roles in published research so that the appropriateness of their participation can be determined. This is especially important if researchers from countries with restrictive laws collaborate with those in countries with more permissive laws.
The meeting participants plan to continue their work as the Hinxton Group, a consortium that will examine the ethics and law related to stem cell research. Some of their forward strategies from the consensus statement include: encouraging scientists to submit embryonic stem cell lines to a national or international depository to facilitate replication and collaboration as well as to protect precious resources, encouraging journal editors to continue and enhance their efforts for high standards in scientific peer review and ethical integrity in stem cell science, and suggesting that those donating ‘human materials’ be considered human research subjects so that they will be covered by systems of oversight by funding bodies and ethics review boards. In addition, the Group plans to launch a public website, hosted by the Phoebe R. Berman Bioethics Institute, one of the meeting’s hosts, where international researchers can share information about research codes of practice and ethical protocols.
20 February 2006Results from the most recent Clinical Molecular Genetics Society (CMGS) annual audit of activity in UK National Health Service laboratories are now available. The 2004-5 report records a very similar number of postnatal tests as last year (63,500 as opposed to 65,000 for 2003-4); this excludes the figures for aneuploidy and leukaemia testing which contributed a further 7,000 (a rise of 2000 from the previous year).
However, there has been some shift in the proportions of different tests performed; cystic fibrosis tests now outnumber those for Fragile X, respectively representing 21% and 19% of the total number of tests, as compared with 17% and 18% last year. The next most common test indications were familial cancer BRCA gene mutations (9%) and hereditary haemochromatosis HFE gene mutations (7%), followed by tests for the Factor V Leiden mutation, MMR gene mutations (for HNPCC), spinocerebellar ataxias and thalassaemia, each accounting for around 4% of the total. In all, over 300 different types of test were performed.
Prenatal testing levels rose slightly since the previous year, with a total of 1327 reports (excluding those for aneuploidy) compared with 1260 the previous year. Cystic fibrosis was once again the most common indication, accounting for 32% of all tests (2003-4 figure 34%), but the proportion of haemoglobin disorders has risen, with sickle-cell anaemia and beta-thalassaemia tests accounting for at 21% and 9% of the total, respectively, compared with 18% and 7% in 2003-4. The proportion of Duchenne muscular dystrophy tests remained level at 8%.
The audit also reports on predictive and confirmatory testing performed by the CMGS laboratories over the last year, information requested by the Department of Health to include in the Genetics and Insurance Committee (GAIC) report. A total of 2586 such reports are recorded, of which 2109 were classed as predictive, for over 50 different disorders. By far the most common predictive test was for familial breast cancer (BRCA1/2 genes), followed by Huntington’s Disease, hereditary non-polyposis colorectal cancer, hypertrophic cardiomyopathy, familial adenomatous polyposis and myotonic dystrophy.
The report notes that there are still significant backlogs of BRCA mutation screening, which are not expected to be cleared until mid-2006, after which a further rise in predictive BRCA testing (for mutations identified by screening of relatives) is expected. A general rise in predictive testing in future is also anticipated due to the increasing availability of specific tests.
16 February 2006The HFEA (Human Fertility and Embryology Authority) held an open meeting on the 15th February to consider issues related to the procurement of gametes and embryos for research, most notably the provision of eggs for therapeutic cloning research. The official HFEA recommendation in advance of the meeting was to support the extension of current gamete donation and egg sharing schemes to include the use of the donated gametes in research.
The donation of eggs for research is a contentious issue. Presently, women undergoing in vitro fertilisation (IVF) can be asked to donate eggs generated by ovarian stimulation that are not used for implantation, either for use by infertile couples who cannot produce their own eggs, or for certain research areas that do not involve the creation of human embryos (and are therefore not regulated by the HFEA). Now two research centres at the universities of Newcastle and Edinburgh have asked the HFEA for permission to request egg donation for these purposes from women undergoing IVF treatment, and also to solicit ‘altruistic egg-donation’ from women who are not having IVF for their own fertility problems.
Altruistic donation is permitted to help infertile couples conceive, but there are serious concerns about the ethics of asking women to undergo the procedure for research purposes. This is because the procedure is medically and surgically intrusive, unpleasant and has associated risks for the woman’s future fertility and her health, most notably the possibility of developing ovarian hyperstimulation syndrome or OHSS, a potentially fatal condition that affects 1-10% of women receiving IVF, 0.25-2% of them seriously.
The HFEA research committee said that allowing altruistic donation would “enable the donor to feel they had made a positive contribution” to research but proposed safeguards of limiting the procedure to women who had “completed their own families” (see BBC news report).
In response to recent revelations that South Korean stem-cell scientist Woo Suk Hwang had used eggs from some of his junior researchers, and following the receipt of an application to permit “the use of gametes to create embryos as part of a licensed research project from a relative of an employee of the licensed Centre”, the HFEA suggested that friends and family of scientists should receive independent counselling to ensure they were acting entirely voluntarily before donating. The HFEA report stated that if these recommendations were agreed on, then it should be considered “whether any additional guidelines need to be put in place in order to prevent any actual or perceived coercion or conflict of interest”. For example, relatives who volunteer to donate eggs, however willingly, could be said to have a vested interest in furthering the research of the scientist in question. Scientists themselves would only be permitted to donate eggs to research groups other than their own, and the report suggested that a similar restriction should apply to friends and family.
At the meeting it was decided that further information was required before a decision on new policy for donors for research could be agreed. In particular, the HFEA is to produce information on:
The Authority will produced a revised version of recommended policy incorporating this information and put it forward for discussion at the May meeting of the HFEA.
Dame Suzi Leather, Chair of the HFEA, said: "We are committed to maintaining a broad consensus on embryo research and it is important that we strike a balance between providing safeguards for patients and the interests of scientists” (see press release). Speaking before the meeting, Michaela O'Sullivan, of the pro-life charity Life, said: "It is disgraceful that the HFEA is to entice women to undergo invasive and risky operations in order to facilitate experimental research that offers no immediate hope of cures".
8 February 2006A global survey of serious genetic conditions has reported that almost eight million children worldwide are born with a serious genetic defect each year; many of these will die in early childhood and of those who survive, many more will be mentally and physically disabled.
The March of Dimes Global Report on Birth Defects: The Hidden Toll of Dying and Disabled Children, which is based on information on single-gene disorders, chromosomal disorders and physical malformations from 193 countries, found that overall around 6% of babies are born with a serious genetic or partially genetic defect, the vast majority in poorer countries. This is due to a range of factors including an increased incidence of consanguineous marriage, childbearing at relatively advanced maternal ages and a much higher rate of carrier status for certain genetic mutations where malaria is endemic (carrier status for the mutations associated with haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency confers protection against malaria).
The report lists the most common birth defects as congenital heart defects, neural tube defects (eg. spina bifida), haemoglobinopathies (eg. thalassaemia and sickle-cell anaemia), Down Syndrome and G6PD enzyme deficiency. Data on birth defects due to environmental causes were not included in the report, although some such as spina bifida are thought to have only a minor genetic component. The combined worldwide birth prevalence of all genetic defects reportedly ranged from 39.7 per 1,000 live births in high-income regions up to 82 per 1,000 live births in low-income regions.
President of the March of Dimes (a voluntary US health agency concerned with improving the health of babies by preventing birth defects, premature birth and infant mortality) Dr Jennifer Howse said: "Our report identifies for the first time the severe, and previously hidden global toll of birth defects… This is a serious, vastly unappreciated and under-funded public health problem" (see BBC news report).
8 February 2006A new EU-funded venture, the Public Health Genomics European Network (PHGEN) has been officially launched. This network of experts in human genetics and public health has been established in order to address issues surrounding Public Health Genomics, the “responsible and effective integration of genome-based knowledge and technologies into public policy and into health services for the benefit of population health”.
Overall, PHGEN, which has been funded for three years, is to function in horizon scanning, fact-finding, and monitoring of the integration of genome-based knowledge into public health. It will seek to help European policymakers to protect consumers and to monitor the implications of genome-based knowledge whilst enabling scientific genomic advances to be translated into evidence-based policies and interventions that will improve population health. This will include developing appropriate national and international links, exchanging information about best practice in order to develop community policies, strategies and measures, and assist in the development and coordination of Public Health Genetics related activities among Member States. In particular, it will focus on key challenges associated with individual national practices in genetic testing.
Led by the German Institute of Public Health, NRW, the other PHGEN partners are the German Center for Public Health Genomics (DZPHG) at the University of Applied Sciences, Bielefeld, and the Public Health Genetics Unit, Cambridge, UK. The network will also include representatives of relevant health authorities from EU Member States, Applicant Countries and EFTA- EEA countries, and from other networks and health-related organizations (for example, EuroGentest, Orphanet, WHO etc).
The first network meeting is taking place in Bielefeld from 8th – 9th February 2006.13 February 2006Tails of histones lost. Nussenzweig A and Paull T (2006) Nature 439, 406-407. News and Views article on how cells recognise DNA damage and halt replication to allow DNA repair.
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Abdalla SA and Letarte M (2006) J Med Genet 43, 97-110. Review.
Nature has three feature news articles under the banner title Cloning: what now?
Mining the secrets of the egg. Dennis C (2006) Nature 439, 652-655
Do we even need eggs? Brown P (2006) Nature 439, 655-657.
No end in sight for stem-cell odyssey. Cyranoski D (2006) Nature 439, 658-659.
8 February 2006Just a family medical history? Schmitz D and Wiesing U (2006) BMJ 332, 297-299. Analysis and comment piece arguing that family history of inherited disease is similar to the results from genetic testing, and that consent procedures for providing both forms of information (for example, to employers) should be equivalent.
Implications of data protection legislation for family history. Lucassen A, Parker M and Wheeler R (2006) BMJ 332, 299-301. Analysis and comment piece exploring whether or not UK clinical geneticists who collect and store data on family history without explicit consent are violating the 1998 Data Protection Act.
Consent, confidentiality and the Data Protection Act. Iversen A et al. (2006) BMJ 332, 165-169. Commentary on how ‘overly strict’ interpretation of the law is hampering epidemiological research and why this should be changed. See also the related commentary: Evidence will help achieve consensus. Goldblatt P (2006) BMJ 332, 169.
Prime-time progress. Bell SD (2006) Nature 543, 542-543. News and Views article on current understanding of the molecular basis of DNA replication and particularly, the process of priming.
Signatures guide drug choice. Downward J (2006) Nature 439, 274-275. News and views piece on how cancer gene expression analysis can guide the choice of chemotherapy to optimise outcome.
Beyond fraud – stem-cell research continues. Snyder EY and Loring JF (2006) NEJM 354, 321-324. Perspective article following the scandal surrounding the falsification of stem cell research published by South Korean scientist Woo Suk Hwang.
Egg donation and human embryonic stem-cell research. Steinbrook RS (2006) NEJM 354, 324-326. Perspective article.