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15 October 2001The Council of Europe Steering Committee on Bioethics has drawn up a draft version of an additional protocol to the Convention on Human Rights and Biomedicine, agreed in 1997. The additional protocol deals with the ethical conduct of biomedical research involving human subjects, including such issues as the procedures to be followed by researchers seeking approval for a research project, the role of ethics committees, the need for informed consent by research subjects, participation by people unable to grant consent, confidentiality and the right of participants to information about the research, safety and supervision. An explanatory report to the draft protocol has also been issued. Although the UK is not a signatory to the Convention on Human Rights and Biomedicine, the NHS R&D Directorate is seeking the views of UK biomedical researchers and others, with a view to contributing to the development of the protocol. The consultation period ends on 31 December 2001.

12 October 2001Following the publication last year of the Department of Trade and Industry's White Paper "Excellence and Opportunity: a science and innovation policy for the 21st century", other Government departments were asked to produce their own science and innovation policies. The Department of Health's Science and Innovation Strategy covers the key areas of innovation and technology transfer, support for the science base in health and social care, knowledge generation and management, and public involvement and protection. Genetics figures prominently in the strategy, as one of the Department's current priorities for directly commissioned research programmes. The paper sets out a commitment to promoting research on genetic predisposition to common disease and developing a "preventive health service" based on this information, introducing targeted treatment through pharmacogenetics, evaluating new technologies and genetic services, and encouraging full public involvement in debating the ethical, legal and social implications of the application of genetics in medicine. More research on gene-environment interactions is also pledged. The strategy paper mentions the Government's establishment of a Genetics Knowledge Challenge Fund to support the setting up of Genetics Knowledge Parks in England. The role of the Human Genetics Commission in leading public involvement in genetics policy is also highlighted, with the HGC's commitment to openness in its proceedings held up as a model for the conduct of advisory committees.  

23 October 2001Earlier this month, the European Parliament passed a resolution condemning the decision of the European Patent Office to grant a patent to the US company Myriad Genetics covering all DNA testing for mutations in the BRCA1 gene (scroll down list of EP texts for 4 October to find "Patenting of human genes"). The resolution instructs EP officials to prepare an official objection to the patent. The medical genetics societies of the UK, the Netherlands, Belgium, Germany and Denmark have released a statement supporting the stance of the European Parliament. Their objections to the patent include a claim that the test offered by Myriad is not the best test available (it fails, for example, to detect large deletions in the gene, a type of lesion that is "a common feature of mutant BRCA1 genes in Europe"), and that the removal of BRCA1 testing from European medical genetics laboratories would prevent the development of improved testing technology. The UK Clinical Molecular Genetics Society, issuing the statement in the UK, adds that the patent grants Myriad a monopoly on BRCA1 testing that is against the public interest (further detailed arguments are presented on the CMGS website). These moves come shortly after the French government announced that it would support the Institut Marie Curie in opposing the granting of the BRCA1 patent (see item in September newsletter), and appear to be part of a growing opposition in Europe to the granting of patents on gene sequences

5 October 2001A British couple would like to use preimplantation genetic diagnosis (PGD) to select an embryo that is free of the genetic disease beta-thalassaemia, and that is also a good tissue match for their two-year-old son, who suffers from the disease. The idea would be to use cord blood from the baby for a stem cell transplant that could save the boy's life. The case is very similar to one reported recently in the United States, where a couple used PGD to have a baby whose cord blood was used to save his sister from dying from the genetic disease Fanconi's anemia (see item in July 2001 newsletter). The Human Fertilisation and Embryology Authority has to decide whether the proposed use of PGD is both safe and effective, and whether it is ethically acceptable. 

5 October 2001The Human Genetics Commission, the major advisory body to the UK Government on issues in genetics, has published its first annual report. In tune with its decision to be more open and accessible than its predecessor bodies, the HGC has aimed for a lively and personal style that it hopes will result in a wide readership for the report. Succinct accounts of the work of the HGC's different subgroups are enhanced by additional "boxes", diagrams and photographs, and the whole report is written in the first person. Annexes set out some of the HGC's output in more detail, for example the full text of its recommendations on genetics and insurance is included, as is the Commission's response to the HFEA consultation on preimplantation genetic diagnosis. Another Annex lists all the members and their registrable interests: directorships, shareholdings etc. Those requesting a copy of the report or downloading it from the HGC website will also see the application form for membership of the HGC's Consultative Panel of people directly affected by a genetic disorder (patients, their families and carers). Plans for how this panel will operate are very fluid, reflecting the Commission's view that the best way of working will emerge from the ideas and input of the Panel's members. The 100 or so people who are chosen as members (the explanatory letter does not say by whom) will be informed by the end of November. 

2 October 2001The House of Lords Select Committee on Stem Cell Research has commissioned The Hansard Society (an independent organisation) to carry out an on-line consultation to gauge the public's views on the issues surrounding stem cell research and therapeutic cloning. Each participant is required to provide his or her e-mail address and is allocated a password to log in to the consultation. Contributions may be signed or anonymous. The consultation focusses on three main areas under the headings "Cloning", "Regulation" and "Respect for the embryo". Within these sections, the debate has been primed by a set of eight "opening questions" posted by the moderator, and by keynote contributions from representatives of four organisations, two broadly supportive of research on embryonic stem cells and two broadly opposed. The on-line consultation runs until Friday 19 October.

18 October 2001The Scottish Executive announced on 9 October that from April 2002 all newborn babies in Scotland will be tested for cystic fibrosis. The move follows the recent publication of evidence suggesting that early diagnosis of cystic fibrosis improves the outlook for children affected by the disease [see Farrell, P.M. et al (2001) Pediatrics 107, 1-13 (Abstract)]. In England, the Department of Health announced last April that it would introduce national neonatal screening for cystic fibrosis using the Guthrie bloodspot card. The National Screening Committee is currently drawing up guidance for implementation of the policy.  

8 October 2001A European "Accompanying Measure" project has been set up to assess the genetics education available to non-geneticist health professionals in Europe. Starting in November 2001, the three-year GenEd project will collate information about current policies and practice in five countries - UK, France, Germany, Netherlands and Sweden - that represent different types of health care system. Information will be collected from organisations representing general practitioners, clinicians in other medical specialties, nurses and midwives, and the views of patient support groups will be sought. A page on the website of the Genetic Enquiry Centre in Manchester asks those with an interest or involvement in this area to comment on a range of questions concerning provision of genetics education for health professionals in their country. It is hoped that the results of the project will lead to the development of collaborative projects in genetics education across Europe. 

24 October 2001The US Centers for Disease Control and Prevention have announced the award of $300,000 per year over three years to three US universities to support their development as "regional hubs of expertise for using genetic information to improve health and prevent disease". The recipients are the Universities of North Carolina, Michigan and Washington, each of which has already established considerable strength in this area. The aim of the awards is to enable these centres to develop their research programmes on gene-environment interactions in chronic disease, to contribute to the development of policy for public health genomics by local and state health departments, and to provide training in genomics for the public health workforce.

3 October 2001Cytogeneticists at Guy's and St Thomas' Hospital Regional Genetics Centre in London have implemented a service to diagnose trisomies 13, 18 and 21 by quantitative-fluorescent PCR (QF-PCR) in amniotic fluid and chorionic villus samples. Mann et al report that of tests on 1373 samples carried out between April 2000 and April 2001, 98% gave usable results, and there were no false positives or false negatives [Mann,K. et al (2001) Lancet 358, 1057-1061]. The problem with the remaining 2% of samples was contamination by maternal cells, which was easily detected. The results of all QF-PCR tests were checked by full karyotyping (studying the chromosome structure and complement in dividing cells), which is considered the "gold standard" in this field. However, QF-PCR is substantially faster than karyotyping, taking less than 2 days rather than about two weeks, and once the technique has been set up in a laboratory it is suitable for use on a large scale. Mann et al point out that in most cases the reason for referral for prenatal chromosome analysis is increased risk of one of the three most common trisomies. They suggest that for these women QF-PCR might become the technique of choice, as the risk of there being a different chromosomal abnormality in these cases is very small; their centre is currently attempting to quantify this risk.

Comment: Mann et al, and Adinolfi et al in an accompanying commentary, also comment on the vexed question of sex chromosome abnormalities. At present the sex chromosome status is routinely reported for all samples. It would be possible to include sex chromosome analysis in the QF-PCR test, but some geneticists question the value of information about abnormalities whose significance is uncertain. Adinolfi and Sherlock suggest that parents should be able to choose whether they wish to have sex chromosome analysis included in the test.  

11 October 2001The genetic defect underlying a rare familial form of thrombotic thrombocytopenic purpura (TTP) has been identified [Levy, G.G. et al (2001) Nature 413, 488-494 (Abstract); see also the excellent commentary by Fosang and Smith (2001) Nature 413, 475-476]. TTP is a condition in which blood platelets and multimers of a blood protein, von Willebrand factor, aggregate and clot inside small blood vessels, causing damage to many organs including the brain and kidney. Levy et al have shown that, in rare cases in which the disease is congenital and runs in families, it is caused by mutations in a gene known as ADAMTS13. This gene encodes a protein with protease activity, whose role is thought to be to break down von Willebrand factor so that it does not multimerise and accumulate in excessive amounts.

Comment: This work is an important contribution to the understanding of how the balance between blood flow and blood clotting (haemostasis) is achieved. It may also lead to better treatments for TTP, which usually occurs sporadically with no known cause.