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25 April 2001In a joint statement with the British Society for Human Genetics, released through the UK Forum on Genetics and Insurance, the Association of British Insurers has confirmed that the results of genetic tests taken as part of a research project, rather than in the context of a clinical diagnostic process, need not be declared in applications for insurance cover. The ABI points out that, in any case, the only clinical genetic test results that have to be declared in insurance applications are those approved by the Genetics and Insurance Committee. Currently GAIC has only approved genetic tests for Huntington's disease, and only a small number of additional tests are under consideration (see Genetic testing and insurance page for further information). The ABI also points out that any clinical genetic test taken after insurance has been purchased need not be declared, even if it has been approved by GAIC. The BSHG has welcomed the ABI's statement, which it says will remove a burden of anxiety from people asked to take part in research projects, and ensure that important genetic research can go ahead.  

12 April 2001A national inquiry is underway in Australia into the issues surrounding the uses and protection of human genetic information. Conducted jointly by the Australian Law Reform Commission and the Australian Health Ethics Committee, the inquiry is investigating the range of opinion in Australia as to what uses of human genetic information are ethically acceptable, whether there is any evidence of inappropriate use at present, the potential for medical benefits from the use of genetic information, the international and trans-national dimensions of research in this area, whether there is a need for a national regulatory framework for genetic information, and the implications of a recent decision to implement a national health information network. The inquiry will report to the Australian Government in June 2002. 

30 April 2001The 28 April issue of the British Medical Journal is a special issue almost entirely devoted to genetics and its impact (current and potential) on health care and health services. The coverage ranges from primary papers on mortality from familial hypercholesterolaemia (Sijbrands et al) and the value of family history in identifying women at risk of deep vein thrombosis as a result of oral contraceptive use (Cosmi et al), to discussion of the optimum configuration of genetic services (Donnai et al) and of factors indicating genetic testing for familial breast cancer (Lucassen et al), brief reviews on the search for genes underlying common disorders (Mathew) and on genetics in primary care (Emery and Hayflick), compendia of web resources in genetics (Pagon et al; Stewart et al), debate on the future of predictive genetic testing (Evans et al; Marteau and Lerman), and personal views on the value of genetic information to individuals (Harris; Kent; Smythe). The issue begins with an editorial presenting an overview of the questions posed by advances in genetics (Zimmern et al), followed by four commentaries on a diverse set of topics: genetics in developing countries (Bloom and Trach), pharmacogenetics (McCarthy), preimplantation genetic diagnosis (Flinter), and the development of genetic databases (Lowrance). Even the News and Letters pages are dominated by genetics.

Comment: The BMJ's focus on genetics is particularly timely, given last week's key speech by UK Health Minister Alan Milburn, in which he acknowledged the potential impact of genetics on healthcare and promised to boost investment in this area.  The BMJ theme issue presents a rather eclectic mix of articles, but with the common underlying theme of trying to come to grips with how genetics might affect the practice of medicine in all specialties.  

4 April 2001In a strongly worded report that is highly critical of the insurance industry, the House of Commons Select Committee on Science and Technology has recommended that insurance companies be prevented, for at least two years, from using positive genetic test results, until more research has been done to clarify their actuarial relevance. Currently, insurers are permitted by the Association of British Insurers' (ABI) Code of Practice to use the results of genetic tests approved by the Government's Genetics and Insurance Committee (GAIC) and of tests for early-onset familial Alzheimer's disease and hereditary breast and ovarian cancer. So far, GAIC has approved only the use of genetic test results for Huntington's disease. The ABI has recently withdrawn the use of tests for four other single-gene diseases. However, the Select Committee found considerable confusion in the industry as to exactly what tests are currently in use, with some evidence that companies are not always adhering to the ABI's Code of Practice. The Committee considered that there is at present insufficient evidence for the predictive power of positive genetic test results, particularly with regard to the severity of disease, the age of onset, and the effects of early diagnosis and treatment. In its view, the insurance industry could readily disregard positive test results without adverse consequences for its business, while accepting negative results that would allow insurance to be offered at standard rates. In considering the current regulatory framework, the Committee was concerned by what it saw as inadequate funding of GAIC, and problems with the way the committee is constituted. It recommended that both GAIC and the Human Genetics Commission be given more resources to enable them to carry out their increasingly heavy workload, and that the membership of GAIC be reconsidered. In a comment that strikes at long-established insurance practice, the Committee also recommended that the insurance industry "explain publicly how they use family history information in the assessment of insurance premiums, and publish the supporting data". Finally, the Committee warns the industry that if self-regulation is seen to be inadequate in this area then Government legislation may be necessary.

26 April 2001Today (26 April) sees the second in a series of meetings of a temporary committee set up by the European Parliament to consider the problems and opportunities arising from developments in human genetics. The committee, consisting of 36 Members of the European Parliament, will function until the end of 2001. During the year it is holding a series of expert hearings on the medical, ethical, legal and social/economic implications of genetics. It will then prepare a report to inform the European Parliament and other institutions of the European Union. The April meeting includes presentations on research involving embryos and cloning, and genetics in medicine. Citizens of the European Union are invited to express their views on any of the topics considered by the committee, via its website.  

3 April 2001The House of Lords Select Committee on Science and Technology has now published its full report on human genetic databases (the evidence gathered in the course of the Committee's inquiry was published last last year - see item in November 2000 newsletter). The report gives enthusiastic endorsement to proposals to establish a database of genetic information linked to medical records, to aid research aimed at discovering common DNA variants associated with susceptibility to various diseases, and investigating how these variants interact with environmental factors. The Committee recommends that the Government set up a Medical Data Panel, including both professional and lay members, which would approve and oversee projects involving the use of human genetic and medical information. The Panel would be charged with ensuring that such projects complied with the provisions of the 1998 Data Protection Act, which would remain the main instrument protecting the use of personal data. The report urges the Government to make an urgent investment into building up an integrated system of GP databases within the NHS, to enable patient data to be made available for research in a standardised and usable form. It also recommends an immediate injection of funds, both by Government research councils and the research charities, into developing expertise in bioinformatics and statistics. The Committee considers it vital that individuals participating in projects involving the use of their personal medical and genetic data should give informed consent, and it sets out the elements that a consent form should contain. These elements include an acknowledgement that it is impossible to foresee all possible future uses of medical information, and a willingness to entrust the oversight of current and future uses of this information to the Medical Data Panel. Finally, the Committee urges the Government to take action to ensure that patents on gene sequences are not granted unless a significant function for the gene has been demonstrated, and that an optimal balance is maintained between protecting commercial interests and fostering research. 

10 April 2001At the end of last year, when both houses of parliament approved changes to the regulations of the 1990 Human Fertilisation and Embryology Act that would allow research into human embryonic stem cells, the Government agreed that the HFEA would not grant any licences for such research until a parliamentary select committee had reported on the issues. A House of Lords Select Committee on Stem Cell Research was accordingly set up in March, with a brief to examine the "ethical, legal, scientific, medical and commerecial issues" surrounding the new regulations. A list of ten specific questions cover aspects such as whether embryonic stem cell research might increase pressures to allow human reproductive cloning, whether commercial involvement in stem cell research might raise additional ethical difficulties, and whether the HFEA needs additional guidelines in deciding whether to grant any research licences under the new regulations. Evidence must be submitted to the Committee by 1 June and it expects to report to the Government by the end of the year. 

19 April 2001Speaking at Newcastle's Centre for Life, UK Health Minister Alan Milburn has promised a large injection of resources into developing the National Health Service's genetic services and the country's research effort in genetics and health care (see text of speech). He announced a package of £30 million to increase the number of consultant geneticists from the current 77 to over 140 by 2006, to double the number of scientific and technical staff associated with the regional genetics centres, and to double the number of genetic counsellors working not only within the genetics centres but also in primary care and in association with Macmillian Cancer Relief. Two new national reference laboratories will be set up to specialise in tests for rare genetic disorders, and a Genetics Commissioning Advisory Group will ensure equity of genetics service provision across the country. Mr Milburn also announced a £10 million investment in genetics research and its implications, by establishing up to four multidisciplinary "genetic knowledge parks" that will bring together clinicians, scientists, academics and industrial researchers to develop new genetic technologies for application in health care. The knowledge parks will also include social scientists working on the ethical and social questions raised by these developments.

Mr Milburn recognised the importance of tackling and solving potential social and ethical problems if the public is to have confidence that genetics will have a positive impact on health care. He promised close scrutiny of the use of genetic tests by insurance companies and implied that the Government will act on any recommendations made by the Human Genetics Commission on this issue. He also pledged an explicit ban on human reproductive cloning. On the question of patents, he announced that the Department of Health is pursuing negotiations with Myriad Genetics for the use of tests for mutations in the hereditary breast cancer gene BRCA1, and has already reached agreement with the Cancer Research Campaign to use the BRCA2 mutation test for which it holds the patent.

In order to inform future planning for genetics, the Government will publish a Green Paper - the first on this subject - in 2002. A panel chaired by Lord Turnberg will advise on the issues the Green Paper should cover.  

6 April 2001A Bill has been introduced in the US Congress that would impose a Federal ban on the cloning of humans (see report in PhRMA's Genomics: A global resource). The Bill would outlaw the carrying out of a "cloning procedure" with the intent of transferring the resulting product into a uterus. Significantly, the Bill would also ban so-called "therapeutic cloning", because it forbids the transfer of a human somatic cell nucleus into an enucleated egg cell. President Bush has indicated that he would support passage of the Bill, which has now been referred to the House Committee on the Judiciary. In 1997, Bush's predecessor, Bill Clinton, banned the use of federal funds for human cloning research. The US Food and Drug Administration says it currently has powers to ban reproductive cloning on safety grounds, but there are fears that this sanction may not be strong enough as some privately-funded groups in the US have already announced that they intend to go ahead with attempts to clone humans. In the UK, Parliament recently passed legislation that explicitly bans reproductive cloning, but permits therapeutic cloning for the purpose of research on the use of embryonic stem cells to treat disease. Embryos created by this means would have to be discarded after a maximum of 14 days. 

17 April 2001Lumbar disc disease, including disk herniation, sciatica and disc degeneration, is very common and represents a significant burden of pain and disability in the population. Twin studies suggest that susceptibility to lumbar disc disease has a genetic component, and a study by Paassilta et al on a Finnish population now suggests one possible candidate for such a factor [Paassilta, P et al (2001) JAMA 285, 1843-1849; also see accompanying editorial by Marini in the same issue]. Comparing the sequences of the three collagen IX genes in 171 patients with lumbar disc disease and 321 asymptomatic controls, they found that a single amino acid change in the protein encoded by one of these genes was more common (12.2%) among the people with lumbar disc disease than in controls (4.7%).

Comment: This study will, of course, need independent corroboration to confirm its results before any firm conclusions can be drawn. If the role of the collagen IX variant in susceptibility to lumbar disc disease is confirmed, the importance of the information is likely to be not so much in predicting who is likely to develop disease, but in enhancing understanding the biochemistry and biophysics of the disease process.  

26 April 2001The human genome project is not the only important one. Alongside it, but with considerably less publicity, are running projects to sequence the genomes of pathogenic microorganisms responsible for various infectious diseases. Information from these projects, by improving understanding of the basic molecular biology of pathogenic microorganisms, promises to lead to better treatment and prevention of these diseases. Antibiotic resistance in the bacterial pathogen Staphylococcus aureus has become a serious problem in recent years, with the appearance first of meticillin-resistant S. aureus (MRSA) and then of strains resistant to glycopeptides such as vancomycin (VRSA). The worry is that there may soon be strains of S. aureus that are resistant to all known antibiotics. A blow in the war against S. aureus has now been struck with the sequencing, by a Japanese research group, of the genomes of both an MRSA strain and a VRSA strain [Kuroda, M. et al (2001) Lancet 357, 1225-1240; also see Commentary by Ala'Aldeen and Grundmann]. Sequences have been identified that are potentially important for virulence in these organisms, and hence as drug targets. The authors also suggest that antibiotic resistance in the VRSA strain could be associated with genes found on a mobile genetic element (transposon) that may be capable of moving between different species.  

9 April 2001The Human Genetics Commission has released the minutes of its plenary meeting held in public on 2 March. At the meeting, the progress of the joint consultation with the Human Fertilisation and Embryology Authority on preimplantation genetic diagnosis (PGD) was discussed, including a draft report of its outcome. The main findings of the consultation were that the use of PGD should be restricted to serious genetic conditions, with a need for special consideration for its use in relation to late-onset disorders, and that the HFEA should continue to regulate PGD on a centre by centre and condition by condition basis. There was disagreement about some aspects of the selection of embryos in PGD, for example whether implantation of carrier embryos should be avoided. The guidance for PGD will need to be kept under review as the technology advances.

The HGC also discussed the issues that emerged from its information-gathering day on genetics and insurance. The main focus of discussion was the lack of evidence about many of the issues involved, for example the accuracy of family history information, the relationship between family history and genetic information, the current extent of anonymous testing (to avoid disclosure to insurance companies), the pattern of insurance purchase, the experience of disease and disability groups, and the extent of compliance of insurance companies with the ABI Code of Practice. The Commission agreed to draw up a list of questions to be put to the ABI.

The meeting also included discussion of the provision in the Criminal Justice and Police Bill to allow DNA samples taken for forensic purposes to be kept on the police database even if the person giving the sample is not subsequently convicted of any offence. Members of the HGC expressed concern about this proposal and a subsequent press notice sets out questions the Commission has raised with ministers, for example whether there should be an independent regulatory body overseeing use of the forensic database, and what protections might be put in place against the future use of samples in the database for other purposes, such as testing for genetic variants thought to be related to criminal behaviour.

Among other topics discussed at the meeting was the wider use of personal genetic information. The HGC expects to be involved in the progress of plans for the proposed UK Population Biomedical Collection, and is also working up its report on its consultation "Whose hands on your genes?", scheduled for publication in October.

The next open meeting of the HGC is likely to be held in June, at the Sanger Centre (Hinxton, Cambs), and to include an information-gathering session on "FISH and Chips" (fluorescent in situ hybridisation, and DNA microarrays). 

18 April 2001Risch et al have reported the results of a population study of incident ovarian cancer in 649 unselected women diagnosed in Ontario, Canada [Risch, H.A. et al (2001) Am J Hum Genet 68, 700-710 (Abstract); also see Breast cancer page for background information]. Of the 515 women with invasive cancer, 11.7% were found to have BRCA1 or BRCA2 mutations, whereas no women whose tumour histology was classed as "borderline" were found to carry mutations. The authors suggest that in their population, a diagnosis of invasive non-mucinous ovarian cancer alone should be a sufficient criterion for offering genetic testing, regardless of family history, age of onset or other criteria. They point out that the frequency of BRCA 1 or BRCA2 mutations in their population series is substantially higher than that found in several previous studies in different populations. One interesting suggestion is that there may be a particularly low frequency of BRCA1 or BRCA2 mutations in ovarian cancer patients of British origin. The lifetime penetrance of BRCA1 mutations for breast and ovarian cancer in the study of Risch et al was calculated to be 68% and 36% respectively - figures that tally reasonably well with previous estimates.

Comment: The steady accumulation of population-based information about the frequency of BRCA1 and BRCA2 muations in breast/ovarian cancer and the risks associated with these mutations is essential both for counselling of women at risk and, from a public health point of view, for formulating referral strategies for genetic testing. The study of Risch et al adds to the information base but also points to the importance of basing strategies on large studies in the population of interest.  

20 April 2001In its report "Open Channels", published in March (a 2-page summary is also available), the Parliamentary Office of Science and Technology (POST) presents a valuable overview of initiatives to consult the public about developments in science and science policy. The report comments on the move away from a "one way" approach, in which the aim is simply to "educate" the public, to a consultative approach in which the public's views are actively sought and, ideally, feed into the decision-making process for science policy. The POST report sets out the characteristics of a successful public consultation, and surveys initiatives that are underway or planned in the Government, academic, private and voluntary sectors.  

9 April 2001In a report for the UK Health Technology Assessment programme, Pembrey et al discuss the potential for screening programmes to identify individuals affected by the fragile X syndrome, and women who are at risk of giving birth to an affected child [Pembrey, M.E. et al (2001) Health Technol Assess 5 (7) (Executive summary), also see Fragile X page for further information about the genetics of fragile X syndrome]. They argue that cascade testing and case-finding approaches, where testing is offered to the relatives of affected individuals and perhaps to adults affected by learning disability or premature ovarian failure (to which female carriers are predisposed), are likely to be successful in increasing the detection of fragile X syndrome and thereby offering information and counselling to women who are carriers. At present, genetic services for fragile X syndrome are not well developed in the UK, with only 10% of regional genetic centres maintaining active family registers for the condition. Pembrey et al argue that population-level prenatal or preconceptional screening is not advisable. Fragile X syndrome is caused by an expansion in the size of a tract of CGG repeats in the FMR1 gene when it is passed from a carrier mother to her child, but there is con