In the news

The Genetics and Society Project (GSP) of the Centre de recherche en droit public in Montreal has launched HumGen, an extensive web-based database of national and international legislation, professional guidelines and ethical codes in the area of genetics and genetic testing. The database includes documents both from government organisations and from relevant non-government organisations (for example, professional bodies and consumer groups). HumGen consists of four different modules. GenBiblio enables the user to assemble a customised list of documents in a specific area of interest. More than 60 options are available including such topics as confidentiality, DNA banks, discrimination and consent. The source of the documents can also be specified, for example international, regional or national. Wherever possible, direct HTML links are provided to the on-line text of the documents included in the database. GenInfo is an electronic newsletter highlighting newly released documents that are being added to the database, with a brief description of their contents. GenConnect is an alphabetically arranged address book of organisations concerned with various aspects of genetics policy and research. The fourth module, GenCite, is an in-house tool for GSP researchers. The HumGen database looks set to be an invaluable resource.

A working party convened by the Nuffield Council on Bioethics has recommended in a discussion paper that the use of early human embryos to derive stem cells for use in research on new therapies should be allowed, subject to safeguards (see also item in March newsletter about Royal Society statement on therapeutic cloning). In the UK, it is currently legal to use embryos up to 14 days old for research on reproduction, but not for research into new treatments for disease. The working party took the view that there was no moral distinction between these purposes and that there were adequate embryos available for stem cell research from the excess embryos created in IVF treatment. The group also considered that fetal tissue derived from aborted fetuses could legitimately be used for obtaining embryonic germ cells (the cells in a fetus that are destined to develop into sperm or egg cells) but that it was important that specific consent for this use of fetal material should be obtained. Finally, the group considered the technique of somatic cell nuclear transfer (SCNT), in which a nucleus from a cell from an adult animal is put into an oocyte (developing egg cell) from which the nucleus has been removed. This procedure could potentially be used to obtain stem cells that were genetically almost identical to a donor (with possibly far-reaching opportunities for disease therapy), but it is also the method that has been used to clone animals such as Dolly the sheep. The group recommends that research on SCNT in humans should be licensed but that it should be illegal to allow an embryo created by SCNT to be implanted in a uterus. 

In the Education and Debate section of the BMP, Fears et al argue that the NHS should embrace the opportunities for disease prevention that will come from advances in genetics, and should act as an "informed and innovative customer" providing a market pull for new products and services arising out of genetic research and development in both the public and the private sectors [Fears, R et al (2000) BMJ 320, 933-935]. They warn that unless the NHS takes on this challenge, a private marketplace for gene diagnostic testing may grow up that could bypass the NHS, whose current service provision and organisation could come to be seen as outdated and inadequate. A holistic approach to health economics is also needed, they claim, in order properly to evaluate the costs and benefits of new technologies. Furthermore, an organised effort is needed in education and training, to ensure that clinicians in all disciplines understand genetics, its applications and implications.

Comment: Few will argue with Fears et al that an overarching strategy is needed for the development of health services as genetic science advances. Their suggestion that  the NHS needs "an integrated service culture ... with less compartmentalisation and more flexible transfer of skills" may also meet with some agreement, though many clinicians - general practitioners in particular - are wary of the extra workload and responsibility that a more direct involvement in genetics could bring. However the most contentious aspect of Fears et al's paper will almost certainly be their assertion that a new "strategic public-private partnership" is the way forward for the NHS.

Moslehi et al have tested for the presence of three mutations in the BRCA1 and BRCA2 genes that are particularly common in Ashkenazi Jewish populations [Moslehi, R. et al (2000 Am J Hum Genet 66, 1259-1272; see Breast cancer summary for background information]. Collectively, these mutations are found in about 2% of such populations. Of 213 unselected Ashkenazi Jewish women with ovarian cancer ascertained from 11 medical centres in North America and Israel, 41% were found to carry one of the three mutations. Other studies suggest that in the wider population (for example, the UK population as a whole) the  percentage of women carrying BRCA1 or 2 mutations is much smaller, probably less than 5%. Moslehi et al estimate that the three mutations they studied "account for most of the heritability of ovarian cancer in the Jewish population". Penetrances calculated for the three mutations were 51% for 185delAG, 21% for 5382insC (both BRCA1 mutations) and 14% for 6174delT (a BRCA2 mutation). First degree relatives of mutation carriers also had a significantly increased risk of breast or ovarian disease: the relative risk of ovarian cancer by the age of 75, for example, was about 5-6.

Comment: This paper demonstrates clearly how different population groups can, usually because of founder effects, show very different degrees of genetic risk for specific diseases. It is generally thought not to be worthwhile screening all women with ovarian cancer for BRCA1 or BRCA2 mutations, but the work of Moslehi et al and others suggests that the picture may be rather different in the Ashkenazi Jewish population. Offering genetic testing to the first-degree relatives of mutation-positive women, with the option of prophylactic ooporectomy if they also test positive, may be justified, though Moslehi et al comment that better information about the effectiveness and risks of prophylactic oophorectomy is needed.