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   |   Published 19 December 2006

Researchers from the Economic and Social Research Council Centre of Genomics in Society (Egenis) at the University of Exeter have launched a two-year project funded by the Wellcome Trust to investigate nutrigenomic diets. Nutrigenomics is the study of interactions between genetic and dietary factors and their influence on health and disease. Although there has been evidence to support the potential influence of genetic factors combined with diet over disease, the field is still in its infancy and the probable interactions between different factors highly complex. However, commercial firms and other bodies are already claiming that genetic information can dictate optimal diets.

The team led by Dr Paula Saukko will investigate the claims made by providers of such nutrigenomic diets in an attempt to discover whether the public is being misled by manufacturers’ claims, and to consider the possible need for regulation of such products and schemes, many of which are available over the internet. They will also assess relevant public health initiatives, clinician-based information and media campaigns or programmes. Dr Saukko observed: "In the USA there are claims you can make your children more intelligent by tailoring their diet according to their genetic make-up…. There is also the 'DNA diet', which claims you can lose weight, tone up and even live longer by following advice based on analysis of your DNA” (see press release). The researchers plan to consider how “often uncertain and controversial scientific evidence on the interaction of nutrients and genetic variation and its health and ethical implications” is presented to the public, and to compare the approaches of the UK and US with respect to “marketing, public health and media discourses” on individual responsibilities for health and diet (see Egenis project information).

News story   |   Published 19 December 2006

The US National Institute of Allergy and Infectious Diseases (NIAD) has announced the development of a novel oligonucleotide microarray (also known as gene chips or DNA chips) for the diagnosis of pathogenic infections (see press release). An international team, including researchers from the US, Canada, Hungary, Germany, Spain and the World Health Organization, has created the ‘GreeneChip’, an array of some 30,000 oligonucleotides representing samples of distinctive genetic material from thousands of human pathogens, including viruses, bacteria, fungi and parasites. Passing human fluid or tissue samples over the array allows any pathogenic genetic material that is present to adhere to the complimentary sequence on the array; signals from such interactions can be interpreted to discover which type of pathogen is present.

The GreeneChip reportedly performs as well as conventional diagnostic methods and is much faster. Rapid diagnosis of the infectious agent is important clinically, to optimise treatments, and also for public health, to allow control of outbreaks of infectious disease, but quite different infectious agents may produce the same, non-specific symptoms giving no indication of the likely cause of disease. Director of the Greene Infectious Disease Laboratory at Columbia University Dr. Ian Lipkin said: "Methods that simultaneously screen for multiple agents are important, particularly when early accurate diagnosis can alter treatment or assist in containment of an outbreak…to address the challenges of emerging infectious diseases and biodefense, public health practitioners and diagnosticians need a comprehensive set of tools for pathogen surveillance and detection" (see press release).

The GreeneChip is described in the CDC's online publication Emerging Infectious Diseases [Palacios G et al. (2006) EID 13(1)], with information about how the system is used for ‘molecular pathogen surveillance and discovery’, validation with samples from patients with respiratory disease, hemorrhagic fever, tuberculosis and urinary tract infections, and its use in the investigation of the cause of death of a health worker, who died during an outbreak of Marburg hemorrhagic fever in Angola from an illness similar to viral haemorrhagic fever. Testing with the GreeneChip failed to show any evidence of the Marburg virus, but rather indicated that the worker had been infected with Plasmodium falciparum, the etiological agent of malaria, which can cause similar symptoms.

News story   |   Published 15 December 2006

The long awaited proposals for revision of the Human Fertilisation and Embryology Act were published today in the form of a white paper which contains proposals to revise the existing Act. The white paper also establishes the statutory basis and chronology for a new regulatory body (the Regulatory Authority for Tissue and Embryos, or RATE) to be formed out of the existing Human Fertilisation and Embryology Authority (HFEA) and the recently formed Human Tissue Authority (HTA). The revised body is likely to be smaller than the combined HFEA and HTA, but will be able to draw on Expert Advisory Panels which will provide technical assistance. The individuals on these panels will have no executive powers.

Many of the proposals for legislative reform of the Human Fertilisation and Embryology Act take account of scientific and societal developments since the law was passed in 1990. Other changes include proposals to bring domestic law into line with European legislation such as the European Tissue and Cells directives. The wide ranging proposals for legislative change include:

  • Changes to definitions:
    • Widening the definition of ‘embryo’ to include all embryos outside the human body regardless of how they are created
    • ‘gametes’ will include ‘artificial’ gametes capable of performing the same functions as naturally occurring eggs and sperm

  • Changes to remit:
    • regulation of a couple’s own gametes in fertility treatments that do not include storage of gametes or creation of an embryo outside the body
    • internet-based businesses supplying sperm for private self-insemination

  • Welfare of the child:
    • Proposals to remove the reference to the need for a father from the Act

  • Procedural changes:
    • Allowing gametes from a person lacking capacity to be stored without consent where it is likely that the person may regain capacity
    • A cooling off period for up to one year for the withdrawal of consent to embryo storage

  • Grounds for screening and selecting embryos:
    • The revised Act will provide explicit grounds for the testing of embryos including screening out of genetic or chromosomal abnormalities which may lead to serious medical conditions or disabilities or miscarriage. Deliberate selection of an embryo affected by a disease or disorder will be prohibited
    • To enable a tissue match to be identified to treat a sibling suffering from a life-threatening illness
    • Sex selection for non-medical reasons will be prohibited

  • Genetic modification of gametes and embryos:
    • Revised legislation will ban reproductive use of genetically modified embryos and gametes but for research purposes only, the restriction on altering the genetic structure of a cell while it forms part of an embryo will be removed
    • Explicit provision to facilitate basic embryo research (rather than applied research) including replacing the nucleus of a cell of an embryo and research into serious injuries (as well as diseases)
    • Although the creation of hybrid and chimera embryos in vitro are likely to be prohibited, the legislation will preserve a power for future enabling regulations

  • Information governance:
    • Limited rights of donors and offspring to access information and widening the status and legal parenthood provisions of the HFEA

The revised legislation is likely to be introduced in draft form as a Bill published for pre-legislative scrutiny in the Parliamentary session 2007-8 and the revised regulatory body, RATE is likely to be operational from 2009.


News story   |   Published 12 December 2006

The tension between respecting and protecting individual interests and promoting wider societal interests is a recurring theme in research governance. Increasing linkage of highly detailed genomic data to health and other data, and dissemination of the linked data in research and non-research settings potentially threatens both individual privacy and public trust in the research process. Recognising this, the National Human Genome Research Institute (NHGRI) has recently commissioned a ‘white paper’ on Privacy, Confidentiality and Identifiability in Genomic Research. The paper was prepared by Dr William Lowrance, a consultant on health research ethics and policy and was supported by a workshop of interested professionals held in October 2006 co-chaired by Dr Francis Collins, director of the NHGRI.


The paper recognises the tension between advancing public health and protecting individual privacy and confidentiality. It concludes that the research community must respect and protect data subjects, with the responsibility for protection being shared by everybody in the chain of data collection, distribution and use. Special care needs to be taken when matching, linking or profiling or describing data-sets since otherwise non-identifiable data can enable identification of individuals. This must be balanced with the recognition that excessive use of techniques to de-identify samples can limit research usefulness.


The paper advocates greater use of controlled release arrangements – where the responsibility for protecting data subject privacy and confidentiality is placed upon those who access the data. If identifiable data are to be freely available then there needs to be more consensus about where unrestricted access is legally and ethically justified, and also consent to data release must be given by the data subjects. Areas for potential clarification include identifying the amount of genome which can be released without revealing the identity of the data source, exploring the role and limits of consent and the impact of existing legislation, regulation and guidance. This report is significant because it identifies a clear responsibility for end users of data to protect the interests of data subjects. This is in contrast with the Academy of Medical Sciences report on the Use of personal data in medical research (not limited to genomic research) which favoured a more flexible approach to the use of personal data in research advocating regulation only where proportionate and necessary.

News story   |   Published 8 December 2006

This week saw Australian parliament debate and eventually lift its prohibition on human therapeutic cloning. Initial legislation governing stem cell research was adopted in 2002, and allowed the extraction of cells from surplus IVF embryos but did not permit the cloning of human embryos. The new bill, drafted by former Health Minister Kay Patterson, will allow the fusion of nuclei from somatic cells with oocytes to form embryos, from which stem cells can be harvested. The new legislation prohibits the implantation of the cloned embryos and they must also be destroyed after fourteen days.

The bill was opposed by both Australian Prime Minister, John Howard and the Leader of the Opposition, but a ‘conscience vote’ allowing members of the house to vote independently of party policy saw the bill passed by a majority of twenty. However, despite this result it is likely that progress in this specific area will be slow as guidelines for egg donation need to be drafted and scientists must also apply to regulatory bodies for research licenses.  

In a comment to BBC News, Kay Patterson stated, “this work's being done in Sweden, England, the United States, in Japan... I didn't see how we could accept any treatment derived from this in the future if we didn't allow the research here in”. She added that the legislation should be reviewed after three years and possibly made more liberal.

News story   |   Published 7 December 2006

Gordon Brown, the Chancellor of the Exchequer, yesterday announced the details of a number of new measures to boost both the patient and economic benefits of scientific and medical research to the UK.

Some of the measures described follow the results of an independent review of public funding for health research that was undertaken by Sir David Cooksey, after the Chancellor’s 2006 budget statement. This included a proposal to create a single, joint, ring-fenced budget to support research funded by the NHS R&D programme and the MRC. The Cooksey Review has recommended that an Office for Strategic Coordination of Health Research (OSCHR) be created, in order to create a more strategic response to health research. The OSCHR would bring together the health research budgets of the MRC and NHS, while maintaining the organisations as two separate entities, and would act to:

  • Set the government's health research strategy, taking into account the advice, priorities and needs set out by the National Institute of Health Research (NIHR) and its counterparts in the devolved administrations, the Medical Research Council (MRC) and the NHS
  • Set the budget required to deliver this strategy and submit a single Spending Review bid to the Treasury
  • Communicate the UK's health priorities to the pharmaceutical and bioscience sectors, including designating public and private sector projects addressing hitherto unmet health needs as 'UK Priority Projects'
  • Monitor delivery of the strategy against objectives and report to Parliament on progress
  • Encourage a stronger partnership between Government, health industries and charities.

The Cooksey Review also recommends the creation of a joint MRC/NIHR Translational Medicine Funding Board to take the lead in developing a translational research strategy to maximize the economic and health benefits of innovation; enhancing drug development and the uptake of clinically- and cost-effective new technologies by creating a new partnership between government, regulators and industry to pilot a new drug development 'pathway; and the reconstitution of the NIHR as an Executive Agency of the Department of Health by April 2009.

The Chancellor’s pre-budget report welcomes these recommendations and the Government has appointed Professor John Bell, as Acting Chair of the OSCHR, to set out the health research strategy for the UK and put forward a joint bid from the NIHR and the MRC to the 2007 Treasury Spending Review to meet the objectives of the strategy. Gordon Brown also reiterated his support for academic-commercial collaboration and knowledge transfer to stimulate innovation, and specifically the field of stem cell research.

The Government also recognised the importance of public confidence in the regulation and use of new technologies, and the Chancellor announced the establishment of an Expert Resource Centre for Public Dialogue on Science and Innovation to assist all parts of government in enabling public debate on science and technology-related topics. The Centre will develop and disseminate good practice on public dialogue across government and its non-departmental public bodies in order to ensure that this viewpoint is incorporated into science policy development.


The full Cooksey Review can be found on the HM Treasury website.

The Chancellor’s full pre-budget review can also be found on this site, with material on health research, science and innovation in the chapter on ‘Meeting the Productivity Challenge’.

Keywords : FundingGovernment

News story   |   Published 1 December 2006

The European Parliament has voted to adopt the Seventh Framework Programme for Research and Technological Development (FP7) for 2007-2013 (see press release). This approval has “…guaranteed…” that the FP7 will be launched on 1 January 2007. The Council of Europe will have the final vote to adopt the programme on 5 December 2006; their appoval is expected. The first call for proposals should be published on 22 December 2006.

It has been a lengthy process to reach agreement on FP7. Negotiations have ongoing for 19 months and there have been approximately 2000 amendments proposed during this process. There are several significant differences between FP6 and FP7. FP7 will run for seven years, as opposed to five years under the previous Framework Programmes, so that it will coincide with the EU’s multi-annual budget framework (see press release). FP7 funds will total approximately €50.5 billion over the seven years, a 40% yearly increase over FP6. There will be four Specific Programmes under FP7: Co-operation, Ideas, People and Capacities. There will be two new thematic research areas under the Co-operation programme; security and space have been added to the eight existing priorities, e.g. health, environment and socio-economic sciences and humanities. The new European Research Council (ERC) will come under the Ideas programme and will fund investigator-driven ‘frontier research.’ Research on the use of human adult and embryonic stem cell research can be funded, depending on the scientific proposal and the legal framework(s) of the Member State(s) involved. Human cloning for reproductive purposes, research into modifying the human germ-line, and projects to create human embryos solely for research purposes or stem cell derivation will not be eligible for funding under FP7.

Research articles

Research article   |   By Dr Ireena Dutta   |   Published 15 December 2006

Researchers at Cambridge University have identified a number of mutations within the SCN9A gene, which cause a total inability to sense pain in an otherwise healthy individual.

The pain response is an important one as it allows tissue repair to take place, for example by forcing the resting of a damaged limb. It also allows individuals to learn about their environment and what aspects of it could lead to injury and should therefore be avoided. The congenital inability to sense pain, without any other type of neurological damage is therefore a very rare phenotype.

The research team identified three related families in Pakistan who exhibited this phenotype. They utilised a positional cloning approach with 400 polymorphic microsatellite markers to identify the mutated gene in these families, which was found to be located on chromosome 2q24. Analysis of the SCN9A gene, within this region, revealed distinct homozygous nonsense mutations in this gene in each of the three families. SCN9A encodes the -subunit of a voltage-gated sodium channel that is expressed at high levels in peripheral sensory neurons, and loss of function studies demonstrated that is an essential and non-redundant requirement for pain perception in humans.


The authors of this study have identified a single gene, that when disrupted leads to the loss of pain perception. This is rather surprising when considered in the context of the central nervous system and the complexity of the pain perceptions pathways. It does however lead to the prospect of the sodium channel encoded by this gene being used a drug target for the development of new analgesics. The authors also suggest that different SNPS within this gene could also be responsible for the variation in pain tolerance demonstrated by different individuals.

An SCN9A channelopathy causes congenital inability to experience pain. Cox et al., Nature (2006) 444 : 894-898.

Keywords : journal

Research article   |   Published 5 December 2006

A new publication in the journal Clinical Cancer Research reports on the genetic characterization of classic lobular carcinomas (CLCs), a type of tumour that accounts for 10-15% of all breast cancers. These tumours show a disappointing response to current forms of treatment (chemotherapy and endocrine therapy, since most of the tumours express estrogen receptors), so a team of researchers led by the Institute of Cancer Research set out to perform an analysis of their molecular genetic features, with a view to seeking potential alternative targets for therapy.

Thirteen typical tumour samples were profiled for gene expression using a variety of techniques, leading to the identification of a genomic region that is amplified in the CLCs. From within this region, the gene FGFR1 was found to be over-expressed; this gene encodes the fibroblast growth factor receptor one, which is a cellular signalling molecule. A breast cancer cell line was identified that showed the same molecular genetic and expression profiles as the CLCs (despite its reported original derivation from a different type of tumour, a ductal carcinoma); inhibition of FGFR1 expression using either small interfering RNA (siRNA) or achemical inhibitor caused reduced survival of this cell line, but not of control cell lines.The researchers therefore concluded that FGFR1 signalling contributes tothe survival of classic lobular carcinomas cells, and possibly also to ductal carcinoma cells, and that it may therefore represent a useful therapeutic target for FGFR1-positive breast cancers [Reis-Filho JS et al. (2006) Clin Cancer Res.12(22): 6652-62].

Comment: This work is highly preliminary and considerably more research will be required to determine whether the FGFR1 protein is a viable therapeutic target, not least by extending the study to a much greater number of tumour samples to reliably determine the extent of FGFR1 over-expression in breast tumours. However, the report is of interest because the protein could represent a new target for a therapy tailored to the genetic nature of the tumour, in the same way that Herceptin® (trastuzumab) successfully targets breast cancer cells that express the HER2 protein.

New reviews and commentaries

New reviews and commentaries, 11 December 2006

Reviews & commentaries

Potential for genetics to promote public health: genetics research on smoking suggests caution about expectations. Carlsten C, Burke W (2006) JAMA 296(20):2480-2 (PubMed).

Pharmacogenetics and diseases of the colon. Hisamuddin IM, Wehbi MA, Yang VW (2006) Curr Opin Gastroenterol 23(1):60-6. Review (PubMed).

The genetics of bipolar affective disorder. Farmer A, Elkin A, McGuffin P (2006) Curr Opin Psychiatry 20(1):8-12. Review (PubMed).

The rhetorical construction of ethical positions: Policy recommendations for nontherapeutic genetic testing in childhood. Hogben S, Boddington P (2006) Commun Med 3(2):135-46. Perspectives piece comparing ethical guidelines from Canada, the UK and the US (PubMed).


Time to get streetwise: why medical ethics is in need of doctors. Sokol D (2006) BMJ 333:1226. Personal view piece on the absence of clinically trained medical ethicists, proposing that useful medical ethics must be based on the reality faced by patients and clinicians .

Genetic testing without consent: the implications of the new Human Tissue Act 2004. Lucassen A, Kaye J (2006) J Med Ethics 32: 690-692. Piece outlining the provisions of the Human Tissue Act and expressing concern at the ability for non-consensual DNA analysis (PubMed).

Genomics in the UK: Mapping the Social Science Landscape. Banner M, Suk JE (2006) Genomics, Society and Policy 2(2): 1-27. ESRC Genomics Policy & Research Forum perspective on the status of social scientific analyses of genomics in the UK.


Eugenomics: Eugenics and Ethics in the 21st Century. Aultman JM (2006) Genomics, Society and Policy 2(2): 28-49. Discussion of ethical and social dilemmas associated with ‘eugenomics’ arguing that ethics is being squeezed out.


Mapping Global Status and Trends in Patent Activity for Biological and Genetic Material. Oldham P, Cutter AM (2006) Genomics, Society and Policy 2(2): 62-91. Review of international trends in activity for patent protection since 1990 in relation to biological and genetic material.

read more ...

New reviews and commentaries, 4 December 2006

Reviews & commentaries

Genetics. Delivering new disease genes. Cardon LR (2006) Science 314(5804):1403-5. Perspectives article on the recently identified link between the IL23r gene and Crohn’s disease, and prospects for the discovery of novel gene-disease links using genome-wide association approaches (PubMed).

Genetics of autoimmune diseases — disorders of immune homeostasis. Gregersen PK, Behrens TW (2006) Nat Rev Genet 7(12): 917-28. Review looking at the genetic contributions to autoimmune diseases, and how recent studies have revealed an unexpected contribution from the innate immune system to these complex diseases (PubMed).

Human laminopathies: nuclei gone genetically awry. Capell BC, Collins FS (2006) Nat Rev Genet 7(12): 940-52. Review of the role of the nuclear lamina in gene regulation and potential therapeutic interventions against diseases caused by disruption of these processes (PubMed).

Heredity before genetics: a history. Cobb M (2006) Nat Rev Genet 7(12): 953-8. Perspectives article on historical understanding of hereditary traits and progression towards Mendel and Darwin (PubMed). 

The balance between heritable and environmental aetiology of human disease. Hemminki K, Bermejo JL, Försti A (2006) Nat Rev Genet 7(12):958-65. Opinion piece looking at the theory that diseases result from a combination of interacting genetic and environmental factors (PubMed).

Defining the spectrum of genome policy. Haga SB, Willard HF (2006) Nat Rev Genet 7(12): 966-72. Science and society article considering policy changes needed to appropriately address ethical and legal implications of genomics developments (PubMed).

Toward a human epigenome. Brena RM, Huang TH, Plass C (2006) Nat Genet. 38(12): 1359-1360. News and Views piece on insights from the Human Epigenome Project (HEP) about the importance of DNA methylation in tissue-specific regulation of gene expression (PubMed).

New insights into the biological basis of genomic disorders. Myers SR, McCarroll SA (2006) Nat Genet. 38(12):1363-4.News and Views piece on recent research linking clinical deletion/duplication syndromes with allelic recombination (PubMed).

read more ...

New reviews and commentaries, 1 December 2006

Reviews & commentaries

The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease. Cummings SA & Rubin DT (2006) J Genet Couns Nov 15; [Epub ahead of print]. Review of current knowledge about associations between genes and IBD, the prospects for improved therapeutic interventions based on this knowledge, and the implications of genetic testing for the condition (PubMed).

Adding pharmacogenetics information to drug labels: lessons learned. Haga SB, et al. (2006) Pharmacogenet Genomics 16(12):847-54. Discussion article about the recent revision of US drug labels by the FDA to include a warning that certain genetic variants were associated with severe adverse reactions to the drug (PubMed).


Preterm Birth: A Review of Genetic Factors and Future Directions for Genetic Study. Esplin MS (2006) Obstet Gynecol Surv 61(12):800-6. Review (PubMed)


Ethical Issues in Cancer Genetics: 1) Whose Information Is It? Schneider KA et al. (2006) J Genet Couns Nov 15; [Epub ahead of print]. Case studies and discussion (PubMed).


HFE mutations and Alzheimer's disease. Connor JR & Lee SY (2006) J Alzheimers Dis 10(2-3): 267-76. Review (PubMed).


Pharmacogenomics: challenges and opportunities. Roden DM et al. (2006) Ann Intern Med 145(10):749-57. Review (PubMed).

Genetic polymorphism in bladder cancer. Wu X et al. (2007) Front Biosci 12:192-213. Review giving an overview of current and future directions in the molecular epidemiology of bladder cancer (PubMed).

Genetic aspects of preeclampsia. Laivuori H (2007) Front Biosci 12:2372-82. Review looking at genetic influences on pre-eclampsia and prospects for using gene expression analysis to predict the condition in pregnant women (PubMed).

read more ...