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The PHG Foundation monthly newsletter features news and views about genetics and genetics research, from a public health perspective. The newsletter is written by staff of the PHG Foundation.

In the news

News story : by Dr Alison Stewart
25 June 2002The ProLife Alliance, a UK anti-abortion campaigning group, has been granted leave to appeal to the House of Lords against an Appeal Court ruling that the 1990 Human Fertilisation and Embryology Act can be used to regulate research involving cloning techniques. The ProLife Alliance originally raised a challenge to this use of the Act in early 2001, when both Houses of Parliament passed regulations to the Act that permitted research on embryos for the purpose of deriving embryonic stem cells that might be used in the treatment of disease. The regulations also covered the use of somatic cell nuclear replacement, or "therapeutic cloning", to create embryos that could be used to obtain stem cells (see Stem cells and cloning page for further background information). The ProLife Alliance's challenge was based on the view that embryos created in this way are not created by fertilisation and therefore are not covered by the Act or amendments to it. A High Court judge initially ruled in the group's favour, but this decision was overturned on appeal. At that time, the ProLife Alliance was refused permission to appeal to the House of Lords but, according to a report in Reuters Health, the Lords have decided that they will hear the case later this year. 

News story : by Dr Alison Stewart
17 June 2002The tortured progress of the struggle in the US Senate over legislation to ban or regulate research involving the production of cloned human embryos continues (see reports in Reuters Health, 13 and 14 June). Last year, the House of Representatives passed a Bill to ban all forms of human cloning. Since then, competing bills have been introduced in the Senate that would either ban all cloning, or ban reproductive cloning while allowing research on "therapeutic cloning", but none of these bills have yet been put to a vote. Last week, leaders of the Democratic majority in the Senate offered a debate on both bills on Friday 14th and Monday 17 June, followed by a vote on Tuesday 18th. No amendments would have been allowed to either bill, and any bill passed would have had to attract at least 60 votes to be referred back to the House of Representatives. Opponents of cloning research rejected this suggestion on the grounds that it would stifle debate and favour the more liberal bill. Republican Senator Brownback, who has spearheaded efforts to secure a complete cloning ban, has said that he will try to force cloning legislation to a vote by attaching parts of the proposed legislation as amendments to other bills before the Senate. Brownback has now also proposed legislation that would ban the patenting of human embryos and of techniques for creating cloned embryos; this is seen by supporters of therapeutic cloning research as an attempt to ban such research by other means.  

News story : by Dr Alison Stewart
10 June 2002The conventional wisdom is that DNA sequences that are conserved between different organisms are likely to be functionally important. For this reason, sequencing of the human genome has been accompanied by parallel projects to sequence and analyse the genomes of a variety of other organisms including the rat and the mouse. Recently the National Human Genome Research Institute, the US organisation that funds and manages the largest US-based genome sequencing projects, announced the next group of organisms that are favoured for having their genomes sequenced. They include the domestic chicken and the chimpanzee (man's closest genetic relative), as well as several species of fungi, and other organisms that are commonly used by research biologists, such as the sea urchin. The organisms were chosen by peer review of "white papers" submitted by groups of researchers. The selection criteria included the importance of work on the organism to medical research and to basic biology and evolutionary studies, as well as the size of the research community and the availability of tools to enable efficient use of genomic data from the organism.  

Research articles

Research article : by Dr Alison Stewart

12 June 2002In the Netherlands, active family screening ("cascade screening") of the relatives of people diagnosed with familial hypercholesterolaemia has been in progress for several years. In a brief report in the BMJ, van Maarle et al report on a study to investigate the treatment and health outcomes for family members who tested positive for FH mutations in this programme [van Maarle, MC et al (2002) BMJ 324, 1367-1368]. The programme involved offering DNA testing to the first and second degree relatives of people who had clinically diagnosed FH and for whom a disease-causing mutation had been identified. The 215 relatives who tested positive were questioned about their treatment (e.g. statin use), their cholesterol level, their body mass index and their smoking status at the time of testing and after 7 and 18 months' follow-up. Among the 177 responders, treatment and clinical characteristics improved during follow-up but treatment was still considered sub-optimal after follow-up in 20% of cases, and clinical outcomes were unsatisfactory in 45% of cases. It is possible that these figures might have been even higher had it been possible to include the 23% of people who were lost to follow-up.

Comment: The rationale for genetic screening for conditions such as FH is that it will motivate people to take preventive action, but optimal results may only be achieved if robust follow-up regimes are implemented to accompany any screening programmes. The Dutch experience suggests that by no means everyone identified in an FH screening programme will achieve a health benefit. This may be an additional factor to be considered in assessing the merits of FH screening programmes such as thosed discussed in a recent Health Technology Assessment programme review [see also Marks, D. et al (2002) BMJ 324, 1303-1308].