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7 November 2000A working group advising the NHS Executive and the Human Genetics Commission has produced a report on the current state and future development of laboratory genetics services in the UK. The report recognises the continuing role of laboratory genetics in service provision for single-gene disorders and recommends no immediate change to the current structure of the services, which are at present an integral part of the regional genetics centres and are often closely linked to university departments. However, it acknowledges that it is difficult to predict how laboratory services may need to evolve in the future if pharmacogenetic testing and testing for predisposition to common disease become a reality, and it recommends that the structure of the service should be kept under review for this reason. In assessing the effectiveness of current services, the working group found that the current regional basis for commissioning laboratory genetics services causes a number of problems, and recommends that the Department of Health should set up a national body to provide a "strategic steer" on the commissioning of these services, including a coordinated mechanism for assessing and evaluating new tests, and advice on coordinating capital and revenue resource for funding new services. In collaboration with the devolved adminstrations in the other countries of the UK, the Department of Health should consolidate a UK-wide genetic testing network to ensure the best provision for testing for very rare genetic diseases. The report also acknowledges the potental impact of patenting on the provision of molecular genetic testing services, and recommends that the Department of Health keep these issues under review. The working group will re-convene in two years' time to report on progess in implementing its recommendations.

20 November 2000The Independent reported last week that Rosgen, the British company licensed by Myriad Genetics to carry out mutation testing on the BRCA hereditary breast cancer genes, has agreed to allow the NHS to carry on testing for BRCA mutations at Regional Genetics Centres without payment of royalties. There will be no ceiling on the type or number of tests carried out. Patents granted on mutation tests for these genes had threatened to price tests beyond the reach of the NHS. Negotiations on the details of the agreement are still in progress, but Rosgen apparently believes that it can establish a successful commercial service that would "complement" the NHS service.

Meanwhile, the Guardian (15 November) has produced "Patenting life", a 12-page supplement detailing the current status of patents granted or applied for on genes from humans, plants, farm animals, imsects, bacteria and viruses. 

24 November 2000In an attempt to assess the level of haemochromatosis-related disease conditons in unselected people who are homozygous for the main haemochromatosis mutation (C282Y), Bulaj et al have carefully examined relatives of C282Y homozygotes who were identified either because they had symptoms or because routine medical checks revealed biochemical evidence of iron overload (elevated transferrin saturation) [Bulaj, Z.J. et al (2000) N Engl J Med 343, 1529-1535]. 214 homozygous relatives of 291 homozygous probands were examined. Among the 113 homozygous relatives who were male, 85% had iron overload and 38% had at least one disease-related condition such as cirrhosis or hepatic fibrosis. The corresponding percentages among the 101 female homozygous relatives were 68% and 10%. Male relatives were more likely to have a haemochromatosis-related condition if the proband him/herself also had disease symptoms than if the proband merely had iron overload but no disease. Bulaj et al suggest that their results show that the undetected disease burden is substantial in unselected C282Y homozyotes. However, their results may also indicate that there are other genetic and/or environmental factors that are shared in families and that affect haemochromatosis penetrance. In the absence of any clear evidence for the wisdom of population screening for haemochromatosis, the results of Bulaj et al suggest that it may be worth more being more active about "cascade" testing, that is, offering testing to the relatives of affected people.  

23 November 2000As part of its inquiry into human genetic databases, the House of Lords Select Committee on Science and Technology has published the written evidence it has received up to 31 October 2000. The inquiry called for evidence from those "involved in maintaining, developing or using human genetic databases or .. actively planning to do so". Evidence was received, among others, from several pharmaceutical companies conducting research into pharmacogenetics and the genetic basis of common disease (for example Astra Zeneca, GlaxoWellcome, Pfizer and SmithKline Beecham); from bodies holding DNA samples for forensic purposes (The Association of Chief Police Officers Crime Committee, the Forensic Science Service and the Home Office); from research-funding bodies (for example the Cancer Research Campaign, Medical Research Council and Wellcome Trust); from the Department of Health; and from research groups and institutes actively involved in the collection and analysis of human genetic material (for example the Avon Longitudinal Study of Parents and Children, the Acute Coronary Event DNA Library Project, and The Sanger Centre). Those submitting evidence outlined the sorts of projects they are undertaking, the reasons for undertaking them, the types of samples collected and how they are stored, measures taken to obtain informed consent and ensure privacy, and their view of their responsibilities regarding issues such as public accountability and intellectual property rights. Considerable information was also submitted about relevant projects in other countries, and how they are being regulated. The next stage of the inquiry is the taking of oral evidence, at a series of public hearings between November 2000 and February 2001. The Committee will produce a report, with recommendations for the Government and the Human Genetics commission, in March 2001. 

28 November 2000At a meeting at Newcastle's Centre for Life on 27 November, the Human Genetics Commission launched its public consultation on the storage, protection and use of personal genetic information. The consultation document has been published on the HGC's website. It is in two parts: the first is a discussion document detailing the issues of concern in the areas of confidentiality, informed consent, the commercial use of genetic information, insurance, employment and forensic databases. The document also considers in detail the question of whether genetic information is special and merits protection beyond that afforded to other types of personal information. The second part of the consultation document is a bullet-point-style summary of the issues, with Yes/No tick boxes for responses. Written responses can be returned to the HGC by post, fax or e-mail and must be received by 28 February 2001.

The HGC is to be applauded for its efforts to initiate public debate on these issues, though the title of the consultation, "Whose hands on your genes?", carries overtones that are not entirely neutral. One also wonders how many of the general public (as opposed to energetic lobby groups) will wade through a 56 page treatise that, despite the catchy title, reads in places like a legal document. 

The HGC may be more successful in eliciting the public's views by other means, and indeed the launch of the consultation coincides with the publication of a People's Panel survey commissioned by the HGC and carried out by MORI (see the HGC's press briefing). The 788-strong Panel, set up by the Cabinet Office, expressed concern about the use of genetic information by insurers and employers, but supported forensic genetic databases for those convicted of serious crimes.  

7 November 2000MPs last week voted by 175 to 83 against a private member's bill, introduced by Liberal Democrat MP Dr Evan Harris, to amend the 1990 Human Fertilisation and Embryology Act so as to allow the use of early embryonic tissue for research into stem cell therapy - a purpose currently outside the provisions of the 1990 Act. The debate was extremely short and MPs seem to have been swayed by the argument of Conservative MP Edward Leigh that the bill was unethical because it proposed destruction of "unborn children", that it could lead to human cloning, and that it was unnecessary because stem cells prepared from adult tissues could readily be used instead of stem cells derived from embryonic tissue. The result of the vote is a setback for medical researchers who believe that the possibilities of stem cell therapy should be explored, and MPs' acceptance of the arguments raised against the bill indicate that their understanding of the scientific issues may be not very sound. However, the debate has at least served to raise awareness of the question, and it is to be hoped that those with an interest in the issue will do their best to ensure that MPs are better informed before the question is again put to the House of Commons by the Government (who are to allow a free vote on the issue) later this year. Among those lobbying MPs will be The Royal Society, which has published the report of a working group recommending that the use of cells derived from embryonic tissue for research on stem cell therapy should be allowed as soon as possible. The report warns that it may never be possible successfully to use cells derived from adult tissue for this purpose, and comments that the fears of human cloning are unfounded because the Act expressly forbids it. 

24 November 2000For some years, the Holy Grail of prenatal diagnosis has been the hope of being able to avoid invasive procedures such as amniocentesis by using fetal cells in maternal blood. The problem has always been that these cells are present at too low a frequency for the procedure to be sufficiently sensitive and accurate. Poon et al now report the successful detection, using fluorescent in situ hybridisation, of trisomy 21 (Down syndrome) in fetal cells harvested from maternal plasma [Poon, L.L.M. et al (2000) Lancet 356, 1819-1820]. Fetal DNA was known to be enriched in maternal plasma compared with the cellular fraction of blood, but most was thought to be from ruptured cells, making chromosome analysis impossible. The work of Poon et al shows, however, that whole fetal cells are present in maternal plasma. In three known Down syndrome pregnancies they detected trisomy 21 in about 0.4%-0.8% of the nuclei they examined. Moreover, the procedure was successful on samples from the first trimester of pregnancy. Poon et al suggest that with further development their method might lead to accurate, non-invasive prenatal diagnosis. There have been many false dawns in this field however; it is a very large step from detecting known cases of trisomy 21 to using the technique at a population screening level. In a paper in the previous issue of The Lancet, Tutschek et al report that they have been able to culture clones of fetal cells from maternal blood samples [Tutschek, B. et al (2000) Lancet 356, 1736-1737]. Using the polymerase chain reaction, they were able to detect fetal alleles in these cells. At present, unfortunately the procedure is expensive, time-consuming and technically demanding, though the authors suggest that it might be amenable to automation.  

9 November 2000In a paper in the Education and Debate section of the BMJ, Kaye and Martin argue that the original proposals for regulating the operation of the UK Population Biomedical Collection (a database of DNA samples and medical and lifestyle information on half a million adult volunteers) may not be adequate [Kaye, J. and Martin, P. (2000) BMJ 321, 1146-1149]. They point out that the Icelandic Government has taken steps to ensure that the controversial Icelandic Health Sector Database, which will contain medical records linked to genealogical information, will be overseen by two new Committees: a Monitoring Committee and an Interdisciplinary Ethics Committee. These committees will be charged with ensuring that deCODE, the company given exclusive rights to the information in the Database, conforms to the terms of its licence. In contrast, Kaye and Martin point out, because scientific and medical research in the UK runs essentially on a self-regulation system, "the funders of research, the managers of the database, and the regulators can be the same institutions". They argue that, if the public is to have confidence in the database, it may be necessary to introduce new legislation (along the lines of the 1990 Human Fertilisation and Embryology Act), or at least to set up an independent regulatory body to regulate it.

Comment: Kaye and Martin deplore the limited public debate that has so far taken place on the proposed UK database. However, they acknowledge that it is an early priority for the Human Genetics Commission (which is launching a public consultation on the topic in Newcastle on 27 November), and that the Wellcome Trust and the Medical Research Council are also undertaking public consultation. Indeed, in their recent report on progress with the project, the Wellcome Trust and the MRC have indicated that the current plan is for there to be a regulatory committee, "independent of both the users of the information and the scientists involved in developing it", to safeguard the interests of the volunteers and the public as a whole. Perhaps all that is needed is to go one step further by setting this body up as an official regulatory committee responsible to the Government.