In the news

  • Newsletter Edition
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 Ireena Dutta   |   Published 20 July 2005

A new report has warned that the EU faces losing out to other nations in the knowledge economy if it does not increase budgetary spending on science and research. Figures released by the European Commission show that the growth rate of research and development intensity (measured as R&D expenditure as % of GDP) in the EU has been declining since 2000 and is now virtually static. This means that the objective that was set by EU leaders to increase spending on research from 1.9% of GDP to 3% by 2010 is now likely to be missed. This is in contrast to China, whose R&D intensity is growing at 10% per year. If these trends continue, China is on course to be spending the same amount of GDP (about 2.2%) on research, by 2010, as the twenty-five nations of the expanded EU.

The report identified a slow-down in R&D expenditure by businesses as a reason for the overall lack of growth in research intensity. Business in the EU continues to spend less on R&D compared to those in USA and Japan. For example in 2002, EU businesses funded 56% of domestic R&D expenditure, compared to 63% in the US and 74% in Japan. The report also found that Europe may be becoming less attractive as a location to undertake research. Analysis demonstrated that research investment by EU companies in the US, increased much faster than that by US firms in the EU. US investment has also been growing a much greater rate in regions outside the EU, such as China.

Responding to these findings, European Union Commissioner for Science and Research, Dr Janez Potocnik, said, “ We must heed this wake-up call. If the current trends continue, Europe will lose the opportunity to become a leading global knowledge-based economy.” The Commissioner is campaigning for an increase in the EU’s research budget as well as measures to better integrate projects across national borders, and involve industry in translating research into tangible financial benefits for the region. In a recent speech in Cardiff last week he highlighted the fact that, “only by joining forces can Europe cope with the challenges of the fast changing world”, and expressed hopes that the new Framework Seven Research Programme (see previous newsletter item) would go some way to tackling the issues that had been raised.


Keywords : Funding

News story   |   By Dr Philippa Brice   |   Published 18 July 2005

A special issue of Science magazine celebrates the sequencing of the trypanosomatid parasite genomes. Three species, Trypanosoma brucei, Trypanosoma cruzi and Leishmania major, which cause the human diseases African sleeping sickness, Chagas’ disease and leishmaniasis respectively, have been sequenced. These parasites have a heavy impact on human health in the developing world; they are responsible for more than 150,000 deaths annually, but also cause serious morbidity in a much greater number of individuals; more than 500 million people are at risk of the diseases. Current treatments are not very effective and can have serious side-effects. Trypanosomiasis or sleeping sickness, which is fatal if untreated, is present in much of sub-Saharan Africa, whilst Chagas’ disease is a serious public health problem in Latin America; around one third of those infected will go on to develop a chronic and sometimes fatal form of the disease. L. major causes cutaneous leishmaniasis, which results in painful, disabling and disfiguring ulcerative skin lesions, most commonly in Afghanistan, Brazil, Iran, Peru, Saudi Arabia and Syria.

An international team of more than 250 scientists, including some from the UK Sanger Centre, took part in the project to sequence the ‘Tritryp’ parasite genomes, jointly funded by the World Health Organization, Wellcome Trust, the National Institutes of Health, and the Burroughs Wellcome Fund. The initiative brought together three international groups, the Leishmania Genome Network (LGN), the Trypanosoma brucei Genome Network (TbGN) and the Trypanosoma cruzi Genome Network (TcGN).The genomes could not be sequenced by standard methods, and novel approaches had to be developed in order to decipher them. Commenting on the research, Dr Els Thorreel of the Drugs for Neglected Diseases Initiative said: "Within the next five to 10 years it should give a number of new ideas for finding better cures for these diseases", adding that it would also be of value in the development of better diagnostic tools (see BBC news report).  Because the three parasites share about 6000 common genes, there are hopes that it may be possible to create a single treatment that combats all three associated diseases, or even a vaccine against them.

News story   |   By Dr Philippa Brice   |   Published 11 July 2005

A BBC news item reports on a twin study of diet-related cholesterol levels. There is considerable variation between individuals in terms of their lipoprotein responses to low-fat diets, and previous studies have linked this to genetic differences. Researchers at the Berkeley National Laboratory in the US looked at 28 pairs of genetically identical male twins with significantly different exercise levels. Either one twin was sedentary whilst the other ran at least 32km a week, or if both twins ran then one ran at least 40km a week further than the other. Running twins ran on average 50 km/wk more than the sedentary twins and weighed significantly less, although twin pairs showed a high degree of correlation for body mass index and blood cholesterol levels despite their divergent levels of physical activity [Williams PT et al. (2005) Am J Clin Nutr 2005 82: 181-187].

Each twin ate either a high fat or a low fat diet for 6 weeks, followed by six weeks on the opposite diet, with cholesterol levels monitored before and after each stage. The response to these changes in dietary fat was generally very similar for each member of a twin pair, especially for changes in low-density lipoprotein (LDL) cholesterol. Dr Paul Williams, who led the study, reportedly said: "If one of the twins could eat a high-fat diet without increasing his bad cholesterol, then so could his brother. But if one of the twins' LDL cholesterol shot up when they went on the high-fat diet, his brother's did too". The researchers concluded that there are strong genetic influences over responses to dietary fat that operate even where physical activity levels are markedly different, and proposed that around 50% of the variation in LDL cholesterol levels could be genetic in origin. People with high levels of cholesterol who do not respond well to changes in diet to lower cholesterol intake currently require medication such as statins to reduce their blood cholesterol; it is suggested that identification of key genes involved in the physiological response to dietary cholesterol might help doctors to design special diets that such individuals would respond to.

News story   |   Published 6 July 2005

A new test is available from a US company that allows women to find out the gender of their baby soon after they know they are pregnant, reports BioEdge (5 July 2005). states that the Acu-Gender Test “…has established itself as the “Gold Standard” for prenatal gender determination” outperforming other conventional methods. Available over the internet, the test kit requires that a woman take a blood sample from her finger and send to the company’s laboratory for analysis. The company warns that she should stay away from all males, including children, during the blood collection procedure, to avoid possible contamination. Also, she must wait until five weeks after conception to take the test. Women can find out their results on the company’s website using a code and registration number to access a secure website. The cost for the test is $275 (~£156). The company claims 99.9% accuracy and will refund double the cost of the test if the result is wrong.

Ethicists are worried about the test as it makes sex selection cheap and easy. While it is not expected that many American women will abort their foetus if it is the ‘wrong’ sex, there is concern the test may be used by those where there is a strong cultural preference for one sex over the other, as it is available to clients overseas. "The sex test is very controversial because it's not clear that you want to broadly facilitate the ability of people to sex- select embryos at a very early stage," stated Prof Charles Cantor, Boston University. "It's potentially abusable."

There has been debate in the United Kingdom on this issue since the House of Commons Select Committee on Science and Technology advocated a liberal position on sex selection in their report on ‘Human Reproductive Technologies and the Law.’ Commentators have argued that relaxation on the policy in this country might encourage those from other countries, such as India where there is a cultural preference for male children, to come to the UK for sex selection procedures [Bhargava, PM. RBM Online (2005) 11(1):12]. Any advances, such as tests for determining gender easily available over the internet, will further add to the ongoing debate.

News story   |   By Dr Philippa Brice   |   Published 1 July 2005
Computer multinational Microsoft is hosting a meeting of leading scientists in Venice, Towards 2020 Science, to discuss current and future needs for new computational tools to generate, store, analyse and interpret data from scientific research (see BBC news report). The volume of data in some areas, such as genomic research and systems biology, is increasing at a massive rate and current software has limited capacity to handle it. Systems biology, sometimes dubbed ‘interactomics’, is an emerging field that seeks to understand how complex biological systems function via the interaction of multiple interacting components. It requires the input of vast amounts of experimental biological data for mathematical modelling. Stephen Emmott of Cambridge Microsoft Research said: “advances in areas such as computational systems biology could re-shape the health and pharmaceutical sectors as a result of a fundamentally greater understanding of biological processes, and therefore of disease”. Novel forms of software are likely to be needed, along with versatile databases and intelligent search engines.
Keywords : international

News story   |   By Dr Philippa Brice   |   Published 1 July 2005

Newborn screening programmes in the United States currently vary significantly between different states and territories. This lack of uniformity, combined with a changing environment of genetics knowledge and genetic testing technologies, led for calls to develop nationally recognized newborn screening system standards and policies. The US Department of Health and Human Services’ Maternal and Child Health Bureau (MCHB) therefore commissioned the American College of Medical Genetics (ACMG) to develop recommendations for the creation of a uniform panel of conditions to be screened for, along with model policies, procedures and minimum standards for state newborn screening programs. A total of 84 different conditions were considered. The resulting report, Newborn Screening: Toward a Uniform Screening Panel and System, recommends that it should be mandatory to screen for 29 selected ‘core’ conditions, defined as being identifiable via a test with appropriate sensitivity and specificity 24 to 48 hours after birth in advance of potential clinical detection, and for which there are known benefits to early detection and efficacious treatments available. It also proposes that it should be mandatory to report diagnosis of a further 25 ‘secondary’ conditions, or of “any abnormal results that may be associated with clinically significant conditions, including the definitive identification of carrier status”.

The core conditions include those covered by existing or new UK newborn screening programmes: phenylketonuria, congenital hypothyroidism, sickle-cell disorders (haemoglobinopathies) and cystic fibrosis, plus a wide range of additional disorders such as forms of acyl-CoA dehydrogenase deficiency, biotinidase deficiency and galactosemia. Twenty of the 29 disorders can be detected using the relatively new technique of tandem mass spectrometry, also known as MS/MS. However, some experts question the evidence base for clinical utility of testing for many of the core and secondary conditions selected in the report. The report has been made available for public comment.

Research articles

Research article   |   By Dr Philippa Brice   |   Published 1 July 2005

Prenatal cytogenetic diagnosis services in the UK have changed considerably over recent years, as new technologies have become available. In March 2004 the UK National Screening Committee (UKNSC) recommended that new screening programmes for Down’s Syndrome did not need to include the traditional technique of karyotyping, but could rely instead on the molecular diagnostic techniques of fluorescence in situ hybridisation (FISH) or polymerase chain reaction (PCR). A new paper published online in the Lancet on behalf of the UK Association of Clinical Cytogeneticists (ACC) reports the results of research to “assess the probable clinical effect of these proposed policy changes”, which concludes that they would have a harmful impact [Caine A et al. (2005), Lancet DOI: 10.1016/S0140-6736(05)66790-6].

Karyotyping (visualisation and examination of the chromosomes) is used to identify the presence of gross chromosomal abnormalities, in terms of number (aneuploidy) or structure, such as trisomy 21 (Down’s syndrome), in which there is an additional copy of chromosome 21. FISH or PCR can also be used to detect common aneuploidies, and are much faster, typically providing results within 2 days compared with two weeks for karyotyping. This is referred to as rapid aneuploidy diagnosis, or RAD. Currently, for women identified by preliminary screening as having pregnancies at high risk of Down’s, both types of diagnostic method may be offered, typically RAD followed by karyotyping. However, the UKNSC have reportedly proposed that NHS funding for karyotyping of such women could be withdrawn, prompting a retrospective cytogenetic audit by an ACC working party. The researchers looked at all karyotyping tests of fetal samples from amniocentesis or chorionic villus sampling from 23 UK laboratories between April 1999 and March 2004, with a view to determining which karyotypes would be missed if RAD replaced karyotyping.

Samples were classified into two groups, those referred via the current antenatal screening programme for Down’s (the majority of cases), and those referred for other reasons. A total of 4565 samples referred via Down’s screening programmes were found to be abnormal; of these, 3232 (71%) would have been detected by rapid trisomy testing and 1333 (29%) would not. Looking at the samples that would have gone undetected and using clinical experience of the phenotypic results of chromosomal abnormality, 29% were of a low-risk variety (not expected to produce a congenital abnormality), 63% were of low-moderate risk and 8% were high risk (expected to produce an abnormality). Taken together, the results suggest that if the samples referred via Down’s screening programmes had been tested solely using RAD, about 1 in 100 overall would have had an undetected autosomal (ie. non sex-chromosome) abnormality, and a third of these undetected abnormalities would have had a substantial associated risk of serious consequences at birth.

The authors conclude that replacement of full karyotyping with rapid testing for trisomies 13, 18 and 21 after a positive screen for Down’s Syndrome could result in “substantial numbers of liveborn children with hitherto preventable mental or physical handicaps”. They suggest that such a move would represent “a substantial change in the outcome quality of prenatal testing offered to couples in the UK” and propose that the best approach remains the use of FISH or PCR combined with karyotyping.

Comment: Based on the results presented, it seems fair to conclude that removing karyotyping from diagnostic testing for referrals from Down’s screening programmes would result in additional pregnancies at risk of significant birth abnormalities going undetected each year, although the effect on the number of live births depends on how many of these pregnancies would have been terminated. However, a commentary on the report observes that although combining RAD with karyotyping may be the ideal technical solution to maximise detection of abnormalities, the issue of cost also has to be considered. The authors also assert that: “70% of clinically significant abnormalities that are not detectable by FISH or PCR would have fetal abnormalities on ultrasound”, and propose that karyotyping could be used most effectively for cases with abnormal ultrasound scan results [Leung WC and Lao TT (2005), Lancet DOI: 10.1016/S0140-6736(05)66791-8], although presumably this would not detect chromosomal abnormalities associated with later developmental or intellectual defects. One other point worth consideration is that the purpose of the antenatal Down’s screening programme is to detect cases of trisomy 21, and how far it should go to identify other chromosomal defects is the subject of some debate.