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29 June 2007A new centre is to be established by Cold Spring Harbor Laboratory in the US to study the genetics of common psychiatric disorders such as schizophrenia and bipolar disorder (see press release). Schizophrenia and bipolar disorder (previously known as manic depression) affect around 2% of the population in developed countries. They are complex mental disorders, thought to arise from a genetic predisposition to disease affected by multiple genetic factors, combined with the influence of environmental factors.

The Stanley Center for Psychiatric Genomics will allow researchers to compare genome sequences from large numbers of people affected by the disorders; it is hoped that this will lead to identification of contributory genetic factors. Greater understanding of the genetics of such psychiatric disorders may help prompt diagnosis, and potentially lead to the development of improved treatments. Current treatments for schizophrenia and bipolar disorder have very variable effects in different individuals, and in many cases are selected to relieve symptoms rather than the underlying disease process.

The new centre is to be set up using a $25 million endowment from the Stanley Medical Research Institute, which is focused on research into the causes and treatments of severe mental illnesses.

28 June 2007The US National Office of Public Health Genomics is seeking additional members for a stakeholder group established to assist the development of the EGAPP (Evaluation of Genomic Applications in Practice and Prevention) project. The goal of EGAPP is “to establish and test a systematic, evidence-based process for evaluating genetic tests and other applications of genomic technology in transition from research to practice”. Its independent, multidisciplinary working group has so far completed two evidence reports on applications of genomic tests proposed for use in clinical practice.

For its stakeholder group, EGAPP wants to recruit representatives from a variety of designated groups including healthcare providers, public health professionals, advocacy groups, the biotech and diagnostics industry, news media and policy makers. The main role of the group is to act as facilitators in identifying and communicating the key ‘messages’ from EGAPP’s work to different sectors. The stakeholder group is also expected to contribute their expertise to the evaluation process, by advising on stakeholder surveys and on specific aspects of EGAPP’s reviews and recommendation statements.

The closing date for nominations is 18 July.

27 June 2007The Gates Foundation is to invest $105 million over 10 years to set up a new public health institute, the Health Metrics and Evaluation Institute (see press release). The University of Washington in Seattle, where the Institute will be based, is also contributing $20 million to the venture. The Institute will complement current efforts by organisations such as WHO to collect, analyse and archive data on key public health metrics such as incidence and prevalence of disease and disability, burden of disease, mortality and causes of death, and health risks. Dissemination is seen as a key task for the Institute, which will “make key health data and information freely available to decision-makers, researchers and the public”.

Crucially, the Health Metrics and Evaluation Institute will also carry out, and provide training tools for, rigorous evaluation of health systems and new health programmes, particularly in the developing world. The dearth of reliable information about the performance of such programmes and interventions is seen as hampering efforts to improve the health of the world’s poorest people.

There may be opportunities, through the work of the new Institute and its collaborating centres, to improve understanding of the global burden of genetic disease, and strengthen the evaluation of new genomics-based initiatives. 

26 June 2007As anticipated, US president George Bush has again used his presidential veto to block government-approved legislation to increase access to state funding for embryonic stem cell research (see previous news), reportedly saying "I will not allow our nation to cross this moral line" (see Nature news). The proposed legislative amendments would permit federal funding of stem cell research using excess embryos from fertility clinics; these unused embryos are otherwise destroyed. Although both the US Senate and House have previously voted in favour, a two-thirds majority is required to override presidential veto. Further attempts to pass the legislation are expected.

In the same week, researchers from a US company claim to have grown human embryonic stem-cells by a method that does not harm the embryos, taking just one cell from an early stage embryo in a similar manner to that used for pre-natal diagnosis of genetic disease in embryos for in vitro fertilisation. Advanced Cell Technology reported the approach at the meeting of the International Society for Stem Cell Research (see Reuters news). Preliminary results for the production of stem cell lines from a single embryonic cell were published last year (see journal club article), but no live embryos were preserved at that time. The company hopes that this approach could bypass ethical objections to embryonic stem cell research, but nevertheless expressed disappointment with the president’s veto (see press release).

25 June 2007The UK’s Medical Research Council, together with the British Heart Foundation and pharmaceutical and biotechnology companies, are jointly sponsoring a £17 million research programme to evaluate novel genomic biomarkers for conditions such as cardiovascular disease, cancers, stroke and Parkinsons disease (see press release). Research on biomarkers related to disease status, progression and responsiveness to treatment will be included among the 18 new projects supported by the funding.

The Medical Research Council is contributing £8 million to the total, with £1 million coming from the British Heart Foundation. The £8 million contribution from industry will be partly in the form of direct financial support, and partly “in kind”, in the form of drugs and reagents, commitment of time or access to technology.

21 June 2007Researchers at Egenis (the ESRC Centre for Genomics in Society) have developed an annotated bibliographic database that aims “to make the science [of genomics] and its implications more accessible to those with philosophical, historical and sociological interests in the various fundamental questions being asked and answered by genomics and related forms of molecular biology”. The database, consisting of over 300 papers from the scientific literature that are indexed in PubMed, is searchable and may also be browsed by author, title, category, type of article, year of publication or publisher. In addition to genomics (including ‘post-genomic’ fields such as proteomics and metabolomics) it covers several of the newer areas of scientific research, such as systems biology and metagenomics, that attempt to move beyond the listing of genes and their products to consider their higher-order interactions, organisation and evolution. Each entry in the database is accompanied by a brief description of the contents of the paper and its significance from a philosophical, historical or social science standpoint.

In an article accompanying the database on the Egenis website, philosophers Maureen O’Malley and John Dupre explain the rationale for the database and provide a brief introduction to the philosophical issues and questions raised by the scientific concepts and research fields it covers.

19 June 2007The independent UK Academy of Medical Sciences has released a new report on inter-species embryos combining human and animal material (cytoplasmic hybrid, human transgenic or human chimeric embryos), which concludes that such research is vital for understanding and treating human disease. This follows the publication of the Government's draft Human Tissues and Embryos Bill and the launch of a public consultation into human-animal hybrid research by the Human Fertilisation & Embryology Authority (HFEA).

Inter-species embryos are said to include animal embryos containing human genetic material, or human embryos containing animal genetic material; chimeric animals are already produced for some forms of research, by introducing human DNA into laboratory animals such as mice. The report, which considers ethical and safety issues alongside the potential scientific benefits, calls for hybrid embryo research to be permitted under regulation in the UK, in order to further understanding of human development, somatic cell nuclear transfer (cloning) techniques and human embryonic stem (ES) cells.

Professor Martin Bobrow, who chaired the working group that produced the report, commented: “There are no substantive ethical or moral reasons not to proceed with research on human embryos containing animal material under the same framework of regulatory control” (see press release)

The Academy report concludes that current research on inter-species embryos can be appropriately regulated by existing mechanisms, but suggests that it will become necessary “to consider the appropriate conceptual and regulatory framework for transgenic and chimeric animals that contain significant amounts of human genetic material”. It notes that dual regulation of this area of research is undesirable, and welcomes the proposed new provisions of the HFE Act that should define which inter-species embryos fall within the remit of the HFEA and successor Regulatory Authority for Tissue and Embryos (RATE), and exclude those that fall within theremit of the Home Office animal research regulations. The report calls for proper channels of communication and consultation between those bodies regulating human embryos, human stem cells and animal research. It also supports continuation of current legal restrictions that prevent culture of potentially viable human embryos beyond 14 days, and prohibit implantation of hybrid embryos into either an animal or human woman.

The authors observe that: “We do not consider that concern about slippery slopes is a good argument forprohibiting valuable research; it is a good argument for rigorous and ethically informed regulation”.

15 June 2007A group of Oxford scientists, led by Professor Walter Bodmer, is seeking DNA samples from 3500 people living in different regions of Britain, in an attempt to chart patterns of DNA variation across the British Isles. It is hoped that the results of the People of the British Isles project will shed light on historical patterns of settlement and migration both within Britain and involving neighbouring regions such as Scandinavia, France and Germany.

A second aim of the project is to aid research on the relationship between genomic variation and disease, by making it possible to distinguish potential disease-related variation from the underlying pattern of variation established by history and geography. Recent UK-based whole-genome association studies have shown that some interesting geographical variation does exist in the UK; in particular, a predominant pattern of variation along a NW/SE axis (see newsletter article). However, the researchers found that the overall effect of population structure on the results of their association studies was small. The People of the British Isles study may add some further detail to the picture.

In order to obtain samples that are truly representative of different regions, the People of the British Isles project is looking for participants whose parents and both sets of grandparents were born in the same locality. Just over 2000 people have already volunteered to take part in the study. Further recruitment events are planned at regional agricultural shows over the summer months.

14 June 2007The UK Government has launched a consultation on proposals for a single Equality Bill for Great Britain (England, Scotland and Wales). The proposals have been developed as a result of the work of the Discrimination Law Review, which was set up to explore the idea of creating a single, modernised framework to protect people who experience disadvantage as a result of unfair discrimination; and the Equalities Review, which considered the broader causes of inequality in society. The proposed Equality Act will be the legislative basis for the work of the new Commission for Equality and Human Rights, which will replace the current Equal Opportunities Commission, Commission for Racial Equality, and Disability Rights Commission.

Part 3 of the consultation paper, A Framework for Fairness, addresses the need to modernise discrimination law, acknowledging that new knowledge and changing social attitudes may require new legislative provisions. Within this section of the proposals, Chapter 8 discusses whether there need to be changes to the grounds or personal characteristics that are protected under discrimination law. Genetic predisposition to disease is considered specifically. The consultation paper proposes there should be no specific legislative prohibition of discrimination on the grounds of genetic predisposition. It notes that there have been very few documented cases of unfair discrimination against people with a genetic predisposition to disease, and that current non-legislative provisions such as the voluntary moratorium on the use of genetic test results in insurance underwriting, and the Information Commissioner’s code of practice for use of genetic test results by employers, appear to be working satisfactorily. It also rejects the suggestion that people with a genetic predisposition to disease should be considered ‘disabled’ while they are still asymptomatic.

However, the paper does endorse the view that “no-one should be unfairly discriminated against on the basis of their genetic characteristics” and proposes that the situation should be kept under review, with the possibility of further non-legislative measures being introduced in the future if justified by the emergence of any evidence of unfair discrimination. The overall philosophy of the proposals is that the law should only be changed “if there is evidence that to do so would be a proportionate response to a real problem”.

These proposals run counter to current thinking in the United States, where legislation outlawing genetic discrimination appears likely to become law in the near future (see recent newsletter article). The difference in approach may partly reflect the close link between employment and health insurance in the US, and perhaps a stronger tradition of non-legislative regulation in the UK.

The consultation is open until 4 September 2007. The Government states that it is committed to taking forward its proposals on a participative basis, and that contact with stakeholders will continue as the proposals are developed and refined.

13 June 2007The Parliamentary Joint Committee on the Draft Human Tissue and Embryos Bill has launched an econsultation forum which will run until 26 June. The terms of the consultation is limited to four areas which have already been scrutinised by Committee in oral evidence sessions. Firstly, the Committee has questioned whether the more permissive regime advocated by the Science and Technology Committee should be reproduced in the Bill. This would allow research on inter-species embryos created by mixing animal and human gametes to proceed subject to licensing by the Regulatory Authority. The draft Bill currently prohibits this area of research with limited exceptions.

Other areas of debate include the sex selection of embryos for family balancing purposes, and whether Parliament (on the face of the Bill or by regulation), the Regulatory Authority or research scientists or individual clinicians in consultation with their patients should take decisions about the use of embryos in research and fertility treatment. For policy makers and researchers alike, these questions are crucial because they dictate how flexibly regulation can respond to scientific advances and shifts in public opinion. The forum is available at:

http://forums.parliament.uk/human-tissue-bill/index.php?index,1

11 June 2007The US National Human Genome Research Institute has allocated the first grants in a four-year project called modENCODE, which aims to identify all the functionally important elements in the genomes of the fruit fly Drosophila melanogaster and the roundworm Caenorhabditis elegans. modENCODE is part of a larger initiative, ENCODE, (EnCyclopaedia Of DNA Elements), that is working towards building a complete catalogue of these elements in humans. Functionally important elements include not just protein-coding genes but also regulatory sequences that control gene expression, genes encoding functional RNAs (which are also turning out to be important players in gene regulation), and sequences important for the structure and dynamics of chromosomes.

Past studies on the fruit fly and the worm have yielded a wealth of information on gene functions and properties that is also relevant to the much more complex human genome. The rationale behind modENCODE is that many of the functional elements identified in the genomes of the fly and the worm will turn out to be present and have similar properties in humans, but can be more easily studied and characterised in these simpler model organisms.

10 June 2007New South Wales, the most populous of Australia’s states, has voted 65 to 26 in favour of new legislation to permit the use of cloned human embryos for stem cell research. NSW is the second of the Australian states to ratify the Stem Cell Research Bill, which requires support from all states to become law (see news story).

10 June 2007The US House of Representatives has voted 247 to 176 in favour of new legislation to remove some of the current restrictions placed on the use of federal funding for stem-cell research; the Senate passed it earlier this year. A similar vote passed the legislation last year, but Republican President George W. Bush issued a veto (see news story), and reportedly intends to do so again; a presidential veto can only be overridden by a majority vote of at least two-thirds.

Proponents of the legislation, which would lift the current restrictions limiting researchers to apply for federal funding for research using human embryonic stem-cell lines only where those cell lines were established before 9th August 2001, claim that stem cell research has massive potential for the treatment of serious medical conditions. Opponents object to the use of stem-cells derived from human embryos, since the process destroys the embryos. In a statement President Bush reportedly said: "If this bill were to become law, American taxpayers would for the first time in our history be compelled to support the deliberate destruction of human embryos…Crossing that line would be a grave mistake. For that reason, I will veto the bill passed today" (see BBC news story).

The day before the stem cell bill, the House voted 213-204 against a bill to ban human reproductive cloning, which would have required a two-thirds majority to be passed. Democrats were largely in favour of the bill, but Republicans said that it would support the creation of cloned human embryos for purposes other than reproduction, ie. medical research.

8 June 2007The Canadian Government and the Government of the province of Quebec have announced  funding of $28.5 million over three years for the CARTaGENE project, a biobanking initiative that will involve recruiting 20,000 Quebec citizens aged 40-60. Participants will provide DNA and other biological samples, together with health and lifestyle information, for studies aimed at identifying the genomic determinants of health and disease in an ageing population.

An additional $6 million has been allocated to support the P3G (Public Population Project in Genomics), an international collaboration that aims to harmonise scientific approaches and standards for ethical governance of large-scale projects in genomic epidemiology around the world. P3G is led by Professor Bartha Knoppers of the University of Montreal and Dr Tom Hudson of the University of Toronto; in addition to CARTaGENE its members include UK Biobank, the Estonian Genome Project and Generation Scotland.

6 June 2007According to BBC News, cardiac specialists are calling on the government to honour commitments to improve services for individuals and families affected by sudden cardiac death syndromes [also known as SADS, for sudden adult (or arrhythmic) death syndromes]. These syndromes, which are often genetic, include a variety of conditions causing hearth arrhythmias, including longQT syndrome and hypertrophic cardiomyopathy. Affected individuals are at risk of a sudden catastrophic heart attack, which often strikes without warning during adolescence or young adulthood. It has been estimated that about 500 young people under the age of 35 die each year in the UK as a result of one of these conditions.

The 2005 revision of the National Service Framework for Coronary Heart Disease specifies that, in the case of sudden unexplained death in a young person, an expert post-mortem should be carried out to ensure accurate diagnosis of the cause of death, with retention of tissue for possible genetic testing, dependent on legal consent. It also requires that NHS services should have systems in place to identify family members who may be at risk and provide them with personally tailored diagnosis (including genetic testing if appropriate), treatment, information and support.

However, heart specialists, coroners and patient support groups such as CRY (Cardiac Risk in the Young) claim that these services are not being delivered and that there has been virtually no improvem