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16 November 2001The Pro-Life Alliance, an organisation that campaigns against abortion and the use of human embryos for research, has won a legal challenge against legislation, passed by Parliament earlier this year, that would have made it lawful under the 1990 Human Fertilisation and Embryology Act for researchers to use embryos created by somatic cell nuclear replacement ("therapeutic cloning") for research on embryonic stem cells (see Stem cells and cloning page for further information). Ironically, in finding in favour of the Pro-Life Alliance, who argued that embryos created by somatic cell nuclear replacement are not created by "fertilisation" (the union of sperm and egg) and therefore are not covered by the 1990 Act or any additions to it, the judge has effectively ruled that there is currently no legislation regulating the use of cloning techniques in the UK. The Government will now have to consider whether to appeal against the ruling or to introduce new legislation that would, if passed by Parliament, permit somatic cell nuclear replacement for stem cell research but outlaw reproductive cloning. Researchers and research organisations who supported the existing legislation have expressed disappointment that there will inevitably be a further delay before it will be clear whether somatic cell nuclear replacement is to be permitted. The Pro-Life Alliance's challenge should not, however, affect the part of the current legislation that permits the use of embryos created by in vitro fertilisation for embryonic stem cell research.
Note added 21/11/01: The Department of Health has announced that the Government intends both to appeal against the High Court judge's ruling on cell nuclear replacement and to introduce emergency legislation to outlaw reproductive cloning.
30 November 2001After wading through a plethora of amendments, some of which sought to make the text more moderate while others aimed to make it more rigid, the European Parliament on 29 November finally voted by 316 to 37 to reject the report (known as the "Fiori report") of its Temporary Committee on Human Genetics and Other New Technologies in Modern Medicine (see provisional minutes of the sitting). Press coverage so far has concentrated on the parts of the report that sought to reject embryonic stem cell research and therapeutic cloning, but the report also called for draconian regulation of many aspects of genetic testing in a way that would have run counter to current law and practice in several EU countries, including the UK (see newsletter item from earlier this month). MEPs were apparently persuaded that it would not be wise to endorse a rigid approach to a fast-moving field that is viewed very differently in different EU member countries.
Meanwhile, the German National Ethics Council has voted by a narrow majority to recommend that German scientists be permitted, under strict regulation, to import human embryonic stem cell lines for research purposes (see report in BBC News On-line). The Council's decision runs counter to the recommendations of a cross-party parliamentary committee that earlier this month called for a ban on all human embryonic stem cell research in Germany. The German parliament is expected to debate the issue early in 2002.
13 November 2001The European Parliament's Temporary Committee on Human Genetics and Other Technologies in Modern Medicine has produced a report that, while urging support for research in genetics and related technologies, recommends a "harmonised" European regulatory regime that would, for example, prohibit the use of genetic testing for any "non-medical" purpose such as in connection with an application for insurance or employment. The report urges the setting up of a robust system for evaluating and licensing genetic tests, which are not adequately covered under existing procedures, and expresses the view that a regulatory regime for such tests - in particular, "predictive" tests - should incorporate ethical principles such as informed consent, privacy, "the right to know and not to know" and the need for "expert genetic counselling", as well as outlawing all forms of discrimination against individuals or their families on the grounds of their genetic endowment. The report also recommends the setting up of a European laboratory network for testing for rare genetic diseases. In comments that might be taken as applying to genetic databases such as the proposed UK BioBank (formerly known as the UK Population Biomedical Collection), the committee expresses the opinion that individual genetic information should not be made available for commercial use, even if the data are anonymised. The report is somewhat more upbeat on the subject of pharmacogenetics, calling for Europe-wide cooperation between the public and private sectors in the development and testing of new biomedicines that could benefit European citizens and industry. In the area of patenting, the report recommends that the European directive on the legal protection of biotechnological inventions should be kept under review, in particular with regard to the difficulty of distinguishing between an invention and a discovery when dealing with the patenting of human gene sequences.
Finally, the Temporary Committee suggests that the ethical principles governing research activities under the sixth framework programme, which is currently under consideration by the European Parliament, should include a ban on the use of somatic cell nuclear transfer ("therapeutic cloning") in stem cell research, and a ban on the creation of human embryos specifically for research purposes. The European Parliament is expected to vote this month on both the sixth framework and the Temporary Committee's report.
8 November 2001Responding to House of Commons Select Committee on Science and Technology's report on genetics and insurance, and recommendations by the Human Genetics Commission, the Government has announced that it has reached agreement with the Association of British Insurers on a five-year moratorium on the use of genetic tests results in assessing applications for life insurance policies up to a value of £500,000, and for critical illness, long term care and income protection policies up to a value of £300,000. These limits will be reviewed after three years. When assessing applications for policies above these values, insurers may only use the results of tests approved by the Government's independent Genetics and Insurance Committee (GAIC). So far, GAIC has only approved the use of tests for Huntington's Disease, in the context of life insurance, though applications for several other tests are currently under consideration. Insurers will still be able to use family history information in assessing insurance applications. If an applicant is assessed as at increased risk of a genetic disease on the basis of family history but has received a negative genetic test, insurers will be able to use this information to re-set a premium to the general population level. During the period of the moratorium, the Government will encourage research on the scientific, medical, actuarial and social aspects of the use of genetic tests in insurance, with a view to development of a long-term policy. The remit and membership of GAIC will be widened to enable it to monitor compliance of the insurance industry with the terms of the moratorium, to investigate complaints, and to review its criteria for assessing genetic tests. The Government also intends to consult with the insurance industry and patient groups to see what measures might be taken to improve the situation of people who have difficulty obtaining insurance because of a family history of a serious genetic disease. 27/10/01
Note added 8/11/01: On 25 October the Government's response and the establishment of the moratorium were debated in parliament. The speech given by Jacqui Smith, Minister of State in the Department of Health, when presenting the report, and the full text of the debate, are available on-line from Hansard.
19 November 2001Researchers at King's College Hospital Medical School in London have reported that the absence of a nasal bone at 11-14 weeks' gestation is a strong indicator that the fetus has Down's syndrome [Cicero, S. et al (2001) Lancet 358, 1665-1667; also see commentary by Cuckle on page 1658]. The researchers studied 701 fetuses that had a positive result for a screening test for chromosomal abnormalities based on a combination of nuchal translucency measurement (another ultrasound marker) and maternal age. Of the 59 fetuses that were subsequently found, by amniocentesis and karyotyping, to be affected by Down's syndrome, 43 (73%) lacked a nasal bone, while the nasal bone was absent in only 3 (0.5%) of the 603 unaffected fetuses. The nasal bone was also absent in 11 out of 20 fetuses with trisomy 18, and 2 out of 8 fetuses with Turner's syndrome. The authors suggest that, if additional multi-centre trials support their finding, a first-trimester screening test for Down's syndrome could be devised, based on a combination of nuchal translucency, nasal bone presence or absence and maternal age, that would have a sensitivity of 85% and a false-positive rate of 1%.
Comment: Recent years have witnessed the discovery of a number of biochemical and physical markers that indicate an increased risk of Down's syndrome. The Department of Health has undertaken to ensure that all pregnant women in the UK are offered second-trimester Down's syndrome screening based on a combination of maternal age and biochemical markers in the mother's serum (see Downs' syndrome information page). In the future, first trimester screening including both ultrasound and biochemical measurements in addition to maternal age may become the method of choice, if these techniques can be effectively translated from expert centres to the health service as a whole.
26 November 2001It is thought that the low success rate of in vitro fertilisation (IVF) is partly due to the failure of aneuploid embryos (embryos with an abnormal chromosome complement) to implant properly. If this is so, the success rate might be improved if embryos were scanned for aneuploidy before implantation. Fluorescent in situ hybridisation (FISH) techniques have been developed to look for abnormal numbers of specific chromosomes, but this approach misses abnormalities in any other chromosomes. A team of Australian researchers have now reported the use of a technique called comparative genomic hybridisation to screen embryos for aneuploidy before implantation [Wilton, L. et al (2001) N Engl J Med 345, 1537-1541; also see editorial by Elias, S. (2001) N Engl J Med 345, 1569-1571]. The technique compares all the chromosomes from a single cell of an embryo with the chromosomes of a cell known to be normal. The chromosomes in the two different cells are labelled with different fluorescent dyes and the ratio of the two fluorescent signals is measured along each of the chromosomes. If the ratio departs significantly from 1:1, it indicates likely aneuploidy. An embryo found to be normal after a preimplantation scan of this type was used successfully for IVF in a 38-year-old woman who had a seven-year history of unexplained fertility and had experienced previous failed IVF attempts. A drawback of the procedure is that, because it takes five days, embryos have to be frozen before use and this in itself can decrease the chances of successful implantation.
Comment: This technique might improve the outlook for women who are at increased risk of producing aneuploid embryos for a variety of reasons such as their age, the birth of a previous child with a chromosomal disorder, or a history of infertility and failed IVF cycles. Much more research is needed to evaluate the technique and, given its high cost, to determine which patients would gain maximum benefit from it.
2 November 2001The results of pooling information from 52 epidemiological studies on 58,209 women with breast cancer and 101,986 unaffected controls provide the most reliable estimates available so far for the breast cancer risk associated with a family history of the disease (assessed only as the number of affected first degree relatives) [Collaborative Group on Hormonal Factors in Breast Cancer (2001) Lancet 358, 1389-1399]. Overall, the relative risk of breast cancer was calculated to be 1.80, 2.93 and 3.90 for women with one, two, or three or more affected first degree relatives. The cumulative incidence of breast cancer for women aged 20 to 80 was 7.8%, 13.3% and 21.1% for women with zero, one and two affected first-degree relatives, and the corresponding cumulative risk of death from breast cancer was 2.3%, 4.2% and 7.6%. For women with at least one first-degree relative with breast cancer, the age at which that relative was diagnosed did affect risk, but only slightly. Factors other than family history, such as parity and oral contraceptive use had no consistent affect on the risk associated with family history. Overall, 87% of women with breast cancer had no affected first degree relative.
Comment: The authors comment that, in public health terms, there is not much to be gained by, for example, concentrating breast cancer screening on women with a family history of the disease, as even if screening were completely effective, such a strategy could only have a very small impact on the overall incidence of disease in the population. They also point out that, although a 21% cumulative risk of breast cancer seems high for women with two affected first degree relatives, it still means that nearly 80% of such women will never contract breast cancer and still fewer would die of this disease. This analysis is reassuring, but it is still clear that women in families with multiple affected relatives, especially where disease occurs at a young age, are at substantially increased risk, and that additional screening or preventive strategies in this very small percentage of families are justified.
22 November 2001The aim of pharmacogenetics is to tailor drug therapy to the genetic make-up of an individual, in order to avoid adverse drug reactions and gain the maximum therapeutic benefit. There is considerable evidence that the frequencies of some genetic variants associated with differing responses to drugs vary between different racial and ethnic groups. However, Wilson et al show that commonly used racial/ethnic classifications (caucasian, black, asian etc) correlate poorly with the distribution of genetic variants that are known to be significant for drug responses [Wilson, J.F et al (2001) Nat Genet 29, 265-269 (Abstract); also see commentary by McLeod, H.L. (2001) Nat Genet 29, 247-248 (Abstract). When people were grouped instead on the basis of shared sets of "neutral" genetic markers such as microsatellites, there was better correlation with drug metabolism profiles, though there was no genetic clustering method that was ideal. Wilson et al suggest that "it is not only feasible but a clinical priority to assess genetic structure as part of drug evaluation".
Comment: This paper strengthens the growing realisation that traditional ways of grouping and classifying different human populations according to skin colour or other visible physical features are inadequate in genetic terms. Eventually, it may be possible to establish a truly individualised pharmacogenetic approach that removes the need for any grouping of people at all, but in the interim, studies on average differences in response between genetically defined population groups should provide valuable information to guide drug development.