News

29 May 2008The Agency for Healthcare Research and Quality (AHRQ), an associate of the US Department of health and Human Services (HSS), has published the results of its research into currently existing databases for genetic tests. The work forms part of the Effective Health Care Program, which aims to facilitate evidence-based decision making through synthesis, research and dissemination of results. The final report, entitled ‘Infrastructure to Monitor Utilization and Outcomes of Gene-Based Applications: An Assessment’, describes the methodology and the databases studied, as well as outlining their shortcomings and making recommendations for future directions.

 

The first objective of this project was to conduct an assessment of existing databases in the US for monitoring the utilisation of, and outcomes from, genetics testing. By looking at a range of databases – including public health, clinical and laboratory based – they investigated specific questions regarding test use, interpretation of results, impact on treatment choices and long-term outcomes. Somewhat disturbingly, they found that only limited and rather sporadic information was available on the use of genetic tests over time, and there are few longitudinal data to indicate the benefits or risks of using genetic tests to guide medical decisions and their short- or long-term outcomes.

 

The second objective of this project was to provide recommendations to establish appropriate and practical systems to assess use and outcomes of genetic testing in the future. The AHRQ conclude that none of the databases in the study could provide all the information required about genetic testing, and before information in disparate databases can be effectively compiled and made more comprehensive, a number of challenges will have to be met. For example, standards for genetic testing, data collection and database architecture must be developed to allow interoperability. Concerns about privacy and confidentiality must also be addressed, whilst regulatory barriers that inhibit the sharing of data need to be reduced.

 

Comment: This report follows hot on the heels of the SACGHS report (see previous news story), also commissioned by the HSS, which recommended that a mandatory database of all clinical laboratory tests should be established. This work provides valuable information about the problems and limitations of current databases, which will inform the design and development of a more comprehensive, and indeed more comprehensible, database that can be used by patients and healthcare professionals alike.

28 May 2008The University of Cambridge Institute for Manufacturing has released a new white paper, based on the Cambridge Service Science, Management and Engineering Symposium held in July 2007. Sponsored by IBM and BAE Systems, this meeting was attended by leading academics and business leaders from a range of different sectors. The new report, Succeeding through Service Innovation, looks at key service systems including healthcare that are crucial to the modern economy, and underlines the current paucity of funding for service innovation from governments, businesses and universities. Service innovation refers to developments that improve service delivery via changes in the way that technology, people, organisations and information work

The report notes that although relevant expertise does exist, it tends to be distributed across separate disciplines, and calls instead for a systematic and interdisciplinary approach to services innovation. Professor Mike Gregory, Head of the Institute for Manufacturing (IfM) and co-author of the report commented: “…there are enormous opportunities for companies and economies that are able to integrate science, technology, production and service” (see press release).

Recommendations include that:

• Researchers and academics should develop an interdisciplinary and inter-cultural approach to service research
• Businesses should establish employment policies for T-shaped professionals, to enhance collaboration between industry and academia and provide ‘grand challenges’ for service systems research
• Governments should promote and fund service innovation, education and research, as well as developing “relevant measurements and reliable data on knowledge intensive service activities”

Comment: Although the scope of this paper extends far beyond just healthcare systems, it is interesting that the emphasis on ‘bridging the gaps’ and building multidisciplinary collaborative models of research and delivery echo the approaches advocated by the PHG Foundation.

The report refers to ‘T-shaped professionals’, defined as individuals who are “deep problem solvers in their home discipline but also capable of interacting with and understanding specialists from a wide range of disciplines and functional areas”. This is a very apt description of many of the Foundation staff; experts from various disciplines, they also possess much wider experience and understanding of other relevant fields, allowing them to act as effective knowledge brokers. Public health genomics seeks to integrate knowledge from genetic and molecular science along with other relevant disciplines, in order to drive translation of this science into improved population health.

It seems that the underlying processes required for the effective transfer of knowledge from different sources into improved services (referred to in the report as the “fundamental challenges in integrating various strands of knowledge”) are shared across different types of service.

To learn more about how the Foundation works to bridge the knowledge gap in healthcare, by working with expert partners and stakeholders, see our What we do pages.

23 May 2008The US Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS) released a draft report on pharmacogenomics for public comment in March 2007 (see previous news). Following a review of the comments by the Task Force in August/September 2007, SACGHS finalized the recommendations in November 2007 and a final report has been published this month. The report: Realizing the Potential of Pharmacogenomics: Opportunities and Challenges, outlines a number of recommendations and considerations in relation to the pharmacogenomics research and development and its integration into clinical practice and public health.

The final report clarifies and expands on some of the recommendations put forward in the draft report by identifying points of action and organisations to carry them out. Additional recommendations have been made in relation to clinical research and mechanisms to facilitate the evidence base needed in order for translation into clinical practice to occur. This includes calling upon the United States Department of Health and Human Services (HHS) to require grantees and contractors participate in the FDA’s Voluntary Genomic Data Submission Programme, fund clinical trials to provide evidence for clinical utility and form guidelines and standards on how studies investigating biomarkers associated with drug response are carried out. In addition, SACGHS recommends that the HHS should facilitate the development of evidence based clinical practice guidelines by supporting consensus-building efforts among developers of guidelines.

Recommendations have also been made in relation to coverage and reimbursement for pharmacogenomic products; SACGHS calls on the Centers for Medicare & Medicaid Services (CMS) to develop a guidance document on current health insurance programmes coverage and reimbursement of pharmacogenomics products and conduct surveys in order to inform its future decisions. Finally the report recommends that the HHS secretary should take all the necessary steps to review and prioritise the recommendations, assess how to implement them, monitor HHS progress and report back to SACGHS.

22 May 2008The Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS) has released a report on the US System of Oversight of Genetic Testing. This report follows a year of work, commissioned by the US Department of Health and Human Services (HHS) in March 2007, investigating the adequacy and transparency of the current oversight system for genetic testing.

 

The purpose of oversight for laboratory testing is to maximise the health benefits whilst minimising the risk of harms from testing. The report distinguishes three main elements of oversight that the Committee regards as essential:

(1)   information development and synthesis, i.e. data gathering and interpretation

(2)   standard-setting, for analytical and clinical performance as well as safety and effectiveness

(3)   compliance mechanisms, including mandatory compliance that is legally enforceable under law, incentive-driven compliance that is supported by financial or legal incentives rather than legally mandated, and informal or voluntary compliance such as self-governance.

 

Included amongst the questions considered by the Committee was the issue of what distinguishes genetic tests from other laboratory tests for the purposes of oversight. The Committee concluded that many of the issues surrounding genetic tests are similar to those of other complex laboratory tests, but that recent advances in genetic technology had confirmed and widened some of the gaps and ambiguities already in existence. Therefore, their most of the recommendations are applicable to the oversight of all clinical laboratory tests.

 

The bulk of the report deals with the existing pathways to examine the analytical validity, clinical validity and clinical utility of genetic tests. The Committee identified gaps in five key areas: regulations governing the laboratory quality; oversight and lack of evidence for clinical validity; lack of information regarding clinical utility; transparency of genetic testing; and educational needs of health professionals and the public. In response to these issues, the Committee made a number of recommendations, which echoed conclusions reached in a number of other reports from around the world, including the European Convention on Human Rights and Biomedicine Report (see previous news story) and the PHG Foundation’s own Diagnostics Summit Report.

 

Most notably, the Committee recommended the establishment of a mandatory web-based test registry of all laboratory tests, funded by the HSS, to enhance transparency and address information gaps in test evaluation. This would contain information regarding the analytical validity, clinical validity and clinical utility of tests. The Committee also recommended that the HHS should create and fund a public-private partnership to evaluate the clinical utility of genetic tests and develop a research agenda to address any knowledge gaps. The criteria for risk stratification of tests should also be examined by a multidisciplinary stakeholder group.

 

The Committee acknowledge that “the translation of genetic tests into clinical practice will rely heavily on preanalytical and postanalytical clinical decision support and research into the impact of genetic information on health care delivery, outcomes and costs.” Although there are numerous difficulties regarding the oversight of genetic testing, a consistent picture is beginning to emerge regarding the importance of a formal system of evaluation, not only to improve the quality and transparency of health care services, but also to ensure patient safety.

20 May 2008On Wednesday 7 May, the Council of Ministers of the Council of Europe approved the final version of an Additional Protocol to the Convention on Human Rights and Biomedicine Concerning Genetic Testing for Health Purposes (see press release), the fourth in a series of protocols added to the Convention on Human Rights and Biomedicine since its adoption by the Committee of Ministers in 1996. Shortly after the CHRB came into effect, the Steering Committee on Bioethics (CDBI) was called upon to establish a Working Party to prepare a Protocol concerning the problems relating to human genetics and questions surrounding the results of predictive genetic tests for purposes other than health or scientific research linked to health.

In February 2003, the Working Party released a working document presenting the outcome of its discussions, for public consultation on the applications of genetics for health purposes (see previous news story). Following the 2003 draft, the work on the Protocol progressed slowly, and in 2004 it was decided to reduce the scope of the Protocol to focus on genetic testing, excluding biomedical research, gene therapy and other applications of genetics for health purposes.

The scope of the Protocol was narrowed even further by the express exclusion of genetic testing on the human embryo and foetus – which the Council is considering for independent attention - genetic testing for purposes of identification, and testing for employment and insurance purposes. In 2006, the Working Party decided to pursue two separate instruments, dealing first with genetic testing for health purposes, resulting in the current Protocol, and secondly with genetic testing for employment and insurance purposes.

‘Genetic test’ as defined in the Protocol refers to the analysis of chromosomes, DNA or RNA and other sources of information equivalent to that provided by genetic material. The Protocol reinforces the OECD Guidelines for Quality Assurance in Genetic Testing, and includes further provisions on clinical utility, medical supervision and genetic counselling. Extensive consideration is given to issues related to consent, and genetic screening programmes have also been addressed. The Protocol is expected to be opened for signature about mid-November.

19 May 2008A new report by the PHG Foundation, Genetic ophthalmology in focus: a needs assessment and review of specialist services for genetic eye disorders, sets out the findings of an expert working group commissioned by the UK Genetic Testing Network (UKGTN) to assess how NHS ophthalmology services needed to change in response to emerging knowledge and opportunities from modern genomic science. Although inherited forms of eye diseases such as the retinal and corneal dystrophies are individually relatively rare, collectively they are significant, and account for more than 10% of new diagnoses of blindness in the UK each year in adults of working age. There is also increasing recognition that genetic factors play an important role in the common eye diseases that typically affect older people, such as age-related macular degeneration (see previous news) and glaucoma (see previous news).

Chaired by Professor Tony Moore from the Institute of Ophthalmology in London, the Working Group included experts in ophthalmology and genetics, and consulted patients and voluntary organisations about their experiences and needs. Patients who have (or may have) inherited forms of eye conditions were found to require prompt and equitable access to integrated and up to date care. A range of health services and specialties are needed; in addition to medical, surgical and nursing support in ophthalmology, genetic counselling and testing and specialist electrophysiology are essential. In many cases, patients may have disorders that cause multiple symptoms in addition to their visual problems (for example, Marfan Syndrome or von Hippel-Lindau disease), making co-ordinated clinical management desirable.

The group found that although there was some specialist service provision in genetic ophthalmology, access to these services was uneven. It recommended that integrated systems and care pathways, including referral systems, should be put in place to make sure that all patients had access to appropriate multidisciplinary services. Efforts to increase wider awareness of these services were encouraged, along with enhanced specialist training provision for genetic ophthalmology. It also recommended that services should include information on voluntary organisations that can provide patient support. There was a general requirement for increased capacity in relevant services, including an urgent review of access to and funding of genetic testing, and of how commercial provision might be integrated into NHS systems.

This project forms part of the PHG Foundation’s Promoting Genetics in Mainstream Medicine work programme.

16 May 2008A new international collaboration, the International Cancer Genome Consortium, has been launched with the aim of coordinating efforts to catalogue the genomic changes in about 50 different cancer types and subtypes (see press release). It is hoped that this information will lead to new approaches to the diagnosis, treatment and prevention of cancer.

Each member of the consortium will take responsibility for at least one type or subtype of cancer, analysing tumour specimens from about 500 patients. The project is expected to take up to 10 years. The role of the ICGC is to draw up an agreed list of cancers for study, to develop common standards for data collection and ethical oversight, and to facilitate information exchange among consortium members to avoid duplication of effort. Cancer types will be chosen for study on the basis of their impact on morbidity and mortality, the availability of therapies, and the feasibility of collecting sufficient high-quality tumour samples. Participating organisations must meet standards of comprehensiveness (detecting all cancer-related genomic changes occurring in at least 3% of tumour samples), resolution (analysis to the level of individual DNA base changes) quality (adhering to common standards of pathology and technology), and controls (comparisons with matched, non-tumour tissue).

All data will be made freely available to qualified researchers, and ICGC members must pledge not to patent or make other intellectual property claims on any of their primary data. The policies and guidelines developed so far are available from the consortium’s website.

Current ICGC membership includes research organisations from Canada, China, France, India, Japan, Singapore, the UK and the US, while the European Commission and Australia’s National Health and Medical Reserach Council have observer status. All research organisations that accept the policies and guidelines of the ICGC are invited to join the consortium. Funding Members pledge to provide at least $20 million over 5 years to fund a project. Research Members must be nominated by Funding Members that have agreed to provide financial support for their participation.

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13 May 2008On 30 April 2008, the UK Human Tissue Authority (HTA) announced the release of regulations that will, for the first time, govern the collection of umbilical cord blood at birth. As stem cells present in cord blood can potentially be used to treat serious diseases such as leukaemia, there is an increasing trend among parents to collect and store the blood for use in the event that the child requires future medical treatment. Various companies will store the blood in a cord blood bank, which acts as an ‘insurance policy’ by securing a source of stem cells that is tissue-matched to the child (see previous news). The practice has raised some concerns, including the potential for commercial exploitation of parents in light of the very low risk that future disease will actually transpire. Commercial services might also divert efforts away from public sector banks such as the NHS Cord Blood Bank.

The new rules, which will take effect from 5th July 2008, emanate from the European Union Tissue and Cells Directive, which was implemented in the UK on 5 July 2007 by the Regulations on Human Tissue (Quality and Safety for Human Application) under the Human Tissue Act. The rules are intended to ensure safety and traceability by requiring that only specially trained individuals may harvest the cord blood, using approved procedures, in hospital maternity units that meet essential standards. An HTA license will require the unit to demonstrate not only that cord blood will be harvested in the proper manner, by qualified staff, but also that procedures are in place to prevent medical attention being drawn away from mother or child during the collection (see BBC news). HTA Chief Executive Adrian McNeil commented: “We are introducing this regulation to make sure that the best quality samples are taken in the safest way…The Human Tissue Authority is one of the frontrunners in Europe for implementing this legislation, which puts patients’ safety at the heart of the process” (see press release).

The Virgin Health Bank, which - unlike most commercial cord blood storage facilities - requires donors to make a portion of each blood sample publicly available (see previous news). has objected to the move, saying: “We already know that there is a critical shortage of cord blood units and there is little incentive for NHS Maternity units to apply for these licenses which may result in further constraint on the availability of cord bloods for lifesaving transplants” (see press release). Notably, procurement centres that do not already hold a suitable HTA licence will probably be charged a licence fee: 2007/8 HTA fees are £7600 for new applications, and £1000 for additional licences for the same centre (see HTA licence fees).

11 May 2008Researchers from St George's Hospital, London, have announced that they have identified seven different subtypes of chronic fatigue syndrome (CFS), also known as Myalgic Encephalopathy (ME) and post-viral fatigue syndrome.

It has been estimated that some 250,000 people in the UK are affected by this illness (for more information, see the ME Association) but it is very difficult to diagnose, due to the wide spectrum of clinical symptoms and severity experienced by different patients in addition to extreme, chronic fatigue that is not alleviated by rest. Despite the availability of diagnostic criteria, definitive diagnosis of CFS/ME remains elusive, and is essentially reached by the exclusion of other potential underlying conditions. There is a lingering belief among some clinicians that the disease is a purely psychological phenomenon, but evidence of a biological basis is mounting steadily.

The new study was based on genetic analysis of 55 patients and 75 healthy blood donors; researchers reported to a conference in Cambridge last week that they have identified seven distinct subtypes of CFS/ME typified by specific genetic patterns, linked to specific symptoms. For example, the most common forms were linked to moderate levels of body pain and sleep problems (type four), and fatigue (type six), whilst other forms showed different symptoms such as stomach problems and muscular weakness (type five), and anxiety, depression and pain (type one).

Comment: Although the results from such a small study will require confirmation in a much larger cohort of subjects, researchers hope that the work may lead to a diagnostic test for the condition. Neil Abbot, of ME Research UK commented: "It's a hard illness to get a handle on, so a clinical test would be the single best way forward for everyone" (see BBC news). Previous research has shown that genetic analysis can identify specific sub-types of cancer, potentially allowing much more precise diagnosis, prognosis and clinical management; now it seems possible that genomic information could aid diagnosis in other complex conditions that involve significant genetic contributions to pathology.

9 May 2008The US Genetic Information Nondiscrimination Act (GINA) has finally obtained congressional approval after several previous attempts failed on their way through the Senate and House of Representatives (see previous news).  The United States Congress is the bicameral legislature of the federal government of the US, consisting of two houses, the Senate and the House of Representatives, to whom senators and representatives are directly elected. The legislation was unanimously (95 votes to 0) approved by the Senate on 24 April 2008 and passed in the House of Representatives on 1 May 2008, by a vote of 414 to 1 (sole dissenter being Congressman Ron Paul).  It is anticipated that President Bush, who has expressed public support for the legislation, will sign the bill soon.

The long-awaited legislation, which has been debated in Congress for 13 years, requires equity in the provision of mental health and substance-related disorder benefits under group health plan and prohibits discrimination on the basis of genetic information with respect to health insurance and employment. It prevents insurers from refusing to provide health insurance to healthy people on the sole basis of genetic predisposition to a disease; it also prohibits them from requesting or using information from genetic tests in the pricing of long-term care insurance. Employers are also denied the right to request or use genetic test information in the process of employment of individuals or in the promotion or dismissal of staff.

Substantive and procedural objections were raised to the previous version of the approved legislation, bill H.R. 493, proposed in conjunction with the Paul Wellstone Mental Health and Addiction Equity Act of 2007 and passed the House on 25 April 2007 by a vote of 420-3. It was noted that there was no clear “firewall” between the provisions on genetic discrimination in health benefits provided by health insurers and plans, and those that addressed genetic discrimination in employment; further definition was sought in the relationship of the bill to other provisions of law, including various types of remedies; and it was felt that the bill might unintentionally permit “forum shopping.” There was also a concern that in the absence of clarification, the bill might be construed to prohibit health plans and issuers from using information about the manifested disease of a dependent covered by an individual plan for appropriate and routine insurance purposes.  Nevertheless, the need for nondiscrimination legislation was affirmed as critical to the realization of the full potential of genomic medicine.

The US predicts that the new law will enable people to take full advantage of the promise of personalised medicine without fear of discrimination based on their genetic information, and could also improve the climate for medical research. The UK observes the US legislative process with interest, as a similar debate about the appropriateness of genetic nondiscrimination legislation becomes increasingly apparent in this jurisdiction (see previous news).

7 May 2008A working group of the European Society of Human Genetics (ESHG) has brought out new recommendations on the patenting and licensing of genetic tests [Aymé et al. (2008) Eur. J. Hum. Genet. 16: S3-S9]. The recommendations are accompanied by a background paper covering the associated ethical, legal and social issues [Soini et al. (2008) Eur. J. Hum. Genet. 16: S10-S50].

 

Whilst it is generally recognised that patents can be beneficial for society, if they drive innovation and progress, they can also be problematic particularly in the field of genetics and genetic testing. Part of the problem is that identification of a gene or mutation associated with a particular trait is not an invention but a discovery, which is not patentable according to the European Patent Convention (EPC). Nonetheless, despite strong public and scientific opinion against the principle of patenting life, estimates suggest that patent applications have been filed for nearly 20% of human genes (see previous news story).

 

Genetic testing is an increasingly important part of medicine, and the proper use of patents for genetic tests should promote innovation and better healthcare services through a fair reward for the inventors. Indeed, the prospect of IP protection is one of the factors that drive translational research in the field of medical genetics. For example, patenting of novel technologies for genetic testing, such as PCR and microarrays, promotes investment whilst still allowing innovation around the technology. However, once a gene-disease association has been proven, the relative ease with which a novel test can be developed using a current technology platform make the patentability of the genetic test itself significantly more complicated.

 

The ESHG have reconciled these viewpoints with respect to genetic testing by recommending that:

(1)   the breadth of the claims in genetic patents should be limited; for example, by limiting the patent on use of a test to a specific disease, as occurred in the case of the Myriad BRCA1 patent for breast cancer (see previous news story)

(2)   the number of patents should be reduced by limiting the patentable subject matter; for example, by prohibiting patenting of specific gene variants

(3)   a professional or scientific body should issue an annual statement on the obviousness/ non-obviousness to increase the quality of granted patents

(4)   the concept of utility in patent law be redefined to take account of downstream clinical experience (i.e. clinical validity and utility associated with testing).

 

Regarding licensing, the ESHG concluded that licenses should be non-exclusive and easily obtainable, as is currently outlined in the Economic Organisation for Cooperation and Development (OECD) guidelines. The ESHG also recommended that the European Patent Office (EPO) consider having an ethics committee to deliberate issues of major interest, such as patents applied to genes.

7 May 2008An EU funded project to design a tool for diagnosis and monitoring of coeliac disease is underway (see news source). The collaborative project named CD-MEDICS ('Coeliac disease management monitoring diagnosis using biosensors and integrated chip systems') will be an interdisciplinary venture aimed at developing a lab-on-chip device which can be used at the point-of-care to screen blood samples for genes which make people more susceptible to developing coeliac disease as well as auto-antibodies which can indicate disease status.

Coeliac disease is an autoimmune disease, also known as gluten intolerance, for which the treatment is strict adherence to a gluten free diet. Although it is estimated to affect around 1% of the population, it is thought to be significantly under diagnosed as the disease may present at anytime in a person’s life and can be difficult to diagnose due to a wide range of associated symptoms and their similarity to symptoms of other diseases. It is a polyfactorial disease, although there is a heritable component and genetic factors have been identified which contribute to increased risk of disease. However, it is not always the case that people possessing susceptibility genes will develop the disease. Absolute diagnosis requires antibody screening and a small bowel biopsy.

This device will form an efficient way to identify at risk individuals and monitor them, as early detection and treatment can help reduce the adverse effects of the disease. It may also negate the need for invasive diagnosis and will allow monitoring of patients who already have the disease in order to ensure that they are complying with a gluten free diet.

Whilst point-of-care tests for coeliac disease are already available, they usually only measure the antibodies associated with the disease. It is hoped that the addition of a genetic test to this panel will help to identify pre-symptomatic high risk individuals, although the clinical utility of this approach is currently unclear.

The programme involving various institutions in 10 countries will be sponsored for four years under the seventh framework programme (FP7). It is hoped that the technologies developed under this programme could be applied to other health conditions such as diabetes and rheumatoid arthritis.

 

14 May 2008An international collaborative genome wide association study looking at insulin resistance and related phenotypes has identified a gene sequence linked to an expanding waist line (central adiposity), weight gain and insulin resistance, which can lead to type 2 diabetes (see BBC news). The results of the study published in Nature Genetics identified four single nucleotide polymorphisms (SNPs) associated with waist circumference; of these the rc12970134 sequence was found to have a strongest association with waist circumference [Chambers et al. (2008) Nat. Genet. doi: 10.1038/ng.156]. The sequence was also shown to be associated with insulin resistance, in a manner that is partially independent of adiposity.

Individuals who are homozygous for the risk allele rc12970134 had a ~2cm greater waist circumference and ~10% higher homeostasis model assessment of insulin resistance (HOMA-IR) results. The study also shows that there is a higher frequency of this risk allele in individuals of Indian Asian ancestry in comparison with those of European ancestry. This finding suggests a genetic mechanism contributing to the higher incidence of obesity and insulin resistance among Indian Asians.    

All four SNPs identified in the study were found to be located near the MC4R gene, which is thought to be involved in regulating energy levels in the body. Mutations in this gene leading to a loss of function are associated with severe childhood obesity and hyperinsulinaema. Another study published in the same journal has identified other common variants near the MC4R gene that appear to influence fat mass, weight and obesity risk [Loos et al. (2008) Nat. Genet. doi: 10.1038/ng.140]; these variants have an additive effect to those of the FTO gene (see previous news). How these common variants influence the MCR4 gene is not known and a greater understanding of these factors may give an insight into the pathogenesis of both rare monogenic subgroups and the common multi-factorial forms of obesity.

Comment: The pathophysiology of obesity and related conditions that may contribute to metabolic syndrome, such as hypertension (high blood pressure), insulin resistance, central adiposity, raised levels of triglycerides and reduced levels of high-density lipoprotein (HDL) cholesterol in the blood, is known to be highly complex, and to involve multiple genetic and environmental factors. However these conditions, which are increasingly prevalent in countries such as the UK and US, significantly increase the risk of cardiovascular disease and type II diabetes, and represent a major public health problem. These recent papers represent another piece in the jigsaw puzzle in trying to understand the genetic and molecular basis of the disease, with a view to providing new ways in which to combat it. Many major reserach programs are also focused in this area. For example, pharmaceutical company Pfizer recently formed a consortium with four US universities and another company to use a systems biology approach to improve understanding of diabetes and obesity. The three-year Insulin Resistance Pathway (IRP) Project will look at insulin signalling in fat cells (see press release).

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