News

31 July 2007The US Food and Drug Administration (FDA) is investigating the death of a patient in an experimental gene therapy trial in America. The therapy being tested was intended to supplement existing therapy in patients with active inflammatory arthritis. This severe, chronic condition can affect multiple joints and organs, and is different from the more common form of arthritis that is associated with aging. Current therapy involves systemic administration of anti-TNF alpha, a biological therapeutic that blocks the action of pro-inflammatory TNF alpha; however, not all patients respond fully to existing treatment.

The potential therapy that was being tested, tgAAC94, uses a recombinant adeno-associated virus (rAAV) vector to deliver a DNA sequence that encodes a soluble form of the TNF alpha receptor. As part of the trial it was injected directly into an affected joint in patients with active inflammatory arthritis who have one or more joints that do not fully respond to anti-TNF alpha. Since the trial began in October 2005, 127 subjects have received at least one dose of either tgAAC94 or placebo. Of these 127 individuals, 74 have received a second dose of drug and 55 have received three doses. Subjects already enrolled in the study will continue to be followed and monitored.

To date, over 500 people worldwide have been treated with AAV in various gene therapy trials, with no serious adverse reactions reported. Although AAV is widely regarded as safe, and the cause of death of the trial subject is yet to be determined, the FDA has halted the trial to review this case thoroughly to determine whether the death is associated with the gene therapy. The FDA is clearly keen to demonstrate the high priority given to issues of safety, and has stated that, although no other adverse events have been reported “as a precaution, the agency is further reviewing all ongoing trials involving any use of AAV” (see press release).

30 July 2007Amid rumours that the UK Government is planning to scrap the House of Commons Select Committee on Science and Technology and replace it with a committee that would be part of the newly created Department for Innovation, Universities and Skills, members of the current committee, and some commentators in the scientific world, have voiced concerns about such a move. They fear that the new committee would have less independence and a narrower remit than the current one and would therefore be unable to comment critically on scientific issues across the whole of government.

The cross-party Science and Technology Committee has produced reports on a wide range of often contentious issues, including genetics and insurance, human reproductive technologies, and the work of the Medical Research Council. The Government is obliged to issue a formal response to all Select Committee reports. While some of the Committee’s reports have been criticised as lacking a firm evidence base or representing the strongly held views of a few particularly vocal members, they have nevertheless kept science policy in the spotlight of parliamentary interest and scrutiny. In answer to a question on the Government’s plans by MP Evan Harris on 12 July, the Leader of the House, Harriet Harman said “There is discussion on the future of the Science and Technology Select Committee in the light of the changes to the machinery of government affecting schools, children and universities. Those discussions are ongoing and, should there be any change, an announcement would no doubt have to be made to the House and voted on, if necessary”.

26 July 2007The European Molecular Biology Laboratory (EMBL) has announced that Australia will become the first non-European, associate member. The EMBL is a publicly funded research institute supported by 19 member states, with centres in Heidelberg and Hamburg (Germany), Hinxton (UK), Grenoble (France), and Monterotondo (Italy).

Australia’s membership will start in January 2008, for an initial period of seven years. The move is intended to facilitate mutually beneficial interactions between the scientific communities in Europe and Australia, with Australian researchers from major research institutions joining EMBL centres, and the EMBL helping Australian partners to develop improved research infrastructure and training opportunities.The Australian centres involved in the collaboration are Monash University, The University of Western Australia, The University of Queensland, The University of Sydney, and the Commonwealth Scientific and Industrial Research Organisation (CSIRO). Additional funding will be provided by the Australian National Collaborative Research Infrastructure Strategy.

EMBL Director General Iain Mattaj commented: "In recent years Australia has become a central player in the landscape of molecular biology. With its special expertise, for example in the fields of medical epidemiology and stem cell research, it will be an excellent complement to EMBL's focus on basic research in molecular biology" (see press release).

26 July 2007Public surveys commissioned by the UK’s Medical Research Council and Wellcome Trust, both leading funders of biomedical research, have shown that 70% of people are supportive of medical research but that most people have little understanding of the reasons for research requiring access to medical records, and about a quarter would be unwilling to allow their personal medical information to be used because of concerns about privacy and confidentiality. The surveys were carried out by Ipsos MORI on behalf of the Medical Research Council and by social science researchers from the University of Surrey on behalf of the Wellcome Trust (see press release).

The Ipsos MORI survey found that good communication, and provision of clear information about the purpose and conduct of research, generally allayed people’s fears. The University of Surrey survey looked more generally at people’s attitudes to the concept of ‘personal data’ and whom they would trust to handle such data responsibly. GPs were seen as potential trusted ‘brokers’ between individuals and researchers though it was recognised that any significant involvement in research would entail problems with workload.

The Medical Research Council and the Wellcome Trust are calling on researchers and funders to work harder to explain the value of medical research requiring personal health information, and to provide accessible sources of information about participation in research.

24 July 2007The German National Ethics Council, an independent body that acts as a national forum for the discussion of ethical issues in the life sciences, has recommended changes to German legislation that would lighten current restrictions for stem cell research. The current law is more restrictive than that of most European countries, banning the production of human embryonic stem cells from stem cell lines established after January 2002. Germany typically takes bioethical issues very seriously, but there is growing concern that they are being left behind by other countries in the area of stem cell research.

Fourteen of the 24 members of the NEC voted in favour of changes that would abolish this cut-off date and replace it with an authority that should assess and rule on each research application individually, as well as repealing the criminal provisions of the current Stem Cell Law. They propose that the use of embryonic stem cells should be permissible for both research and also for the diagnosis and treatment of diseases. However, the recommendations for amendments to the law remain relatively conservative by European standards; for example, they state that imports of embryonic stem cells should only be permitted where “obtained from universally accessible stem cell banks on a non-profit basis” (see press release), to prevent German researchers from supporting commercial production of stem cells in other countries.

23 July 2007The European Nutrigenomics Organisation (NuGO), a European network of excellence funded as part of the EU’s Sixth Framework Programme for Research, has published a set of bioethics guidelines designed to help scientists undertaking nutrigenomics research using human subjects. 

The 19 guidelines, covering topics under the headings of informed consent, genotype information (covering criteria for disclosure of genotype results to participants), biobanks, and use and exchange of data samples, are accompanied by references to relevant official and legal documents from the EU and individual European countries, a list of definitions, a set of template documents chosen as examples of good practice for processes such as seeking informed consent, and a list of available bioethics training courses within Europe.

The NuGO guidelines are based on principles for which there is a general consensus within the EU, and conform to the legal standards set out in various EU Directives. However the authors stress that the guidelines are not a legal document and that ethical approval for nutrigenomics research will depend on the legal and regulatory standards obtaining in individual countries.

NuGO’s guidelines are concise, clear and well set out, and are likely to be a useful starting point for anyone interested in the ethical principles for conducting population-based genomics research. Users are encouraged to add examples and comments from their own experience, to inform the further development of the guidelines. NuGO will be launching the guidelines officially at its annual conference in Oslo in September 2007.

23 July 2007The Royal Society, an independent UK body dedicated to promoting excellence in science, is seeking views on the emerging discipline of synthetic biology, to inform their work on policy in this area.Synthetic biology refers to the artificial construction of novel biological systems or organisms; building on genetic engineering techniques, some researchers are using synthetic genomics to create new organisms (see previous news story). As this field advances, there is considerable concern about the possible ethical, legal and social implications (ELSI) of such research; for example, the application of knowledge for the creation of harmful organisms that might be used in bioterrorism.

The Royal Society says that it is “keen to encourage a wider constructive discussion and debate about these issues” and has called for the views of a range of stakeholders on the potential ‘opportunities and uncertainties’ surrounding the field. Their Call for views document suggests possible categories for comment that include implications for research funding and regulation, human health and safety, the environment, education and training. The deadline for electronic submissions is 27 August 2007.

19 July 2007The US National Cancer Institute’s flagship Cancer Genome Atlas Project is being hampered by the poor quality of many of the tissue samples it had hoped to use in its studies to characterise the genetic properties of cancer cells. According to a report in the journal Nature [Check E (2007) Nature 447, 1036-7], the problem is particularly acute for samples of a type of brain tumour called glioblastoma; about half of the glioblastoma samples sourced from the MD Anderson Cancer Center tissue bank in Houston contain unacceptably high percentages of dead cells.

The Cancer Genome Atlas Project requires high standards of tissue quality for its work, including at least 80% viable cells, and samples at least 200 mg in weight. There is also concern that tumour gene expression, one of the features the project hopes to study, may be affected by anaesthetic treatment used during biopsy procedures. Scientists involved in the project say that problems with sample quality, while not unexpected, are more prevalent than they had hoped. NCI has decided to fund research on biospecimen banking and has begun to work with research agencies in other countries to encourage tissue banks to adopt uniform standards.

17 July 2007A meeting jointly sponsored by the Clinical Genetics Society, GIG, CESAGEN, SGPPH and the BMA was held on 6 July 2007 to review the genetic testing of children. The aim of the meeting was to revisit guidelines developed by the Clinical Genetics Society in 1994. At that time, there was considerable variation in the use of genetic testing in children, and the ethical basis for testing had not been well developed. A Clinical Genetics Society working party, led by Dr Angus Clarke, aimed to identify the particular ethical concerns raised by genetic testing of children and to assess current practice and attitudes in Britain. They circulated a questionnaire to around 3000 health professionals, which revealed that two areas were potentially problematic - the predictive testing of apparently healthy children for an adult-onset disorder, and the testing of healthy children to determine their carrier status for inherited disorders (such as sex-linked or recessive disorders).

The resulting guidance concluded that in the absence of childhood onset or the availability of medical interventions, that predictive testing for an adult-onset disorder should not be offered; nor should carrier testing, where the aim of the test is purely to promote the child’s future reproductive choice. In other situations, arguments against testing may be more finely balanced, particularly where the context indicates a potential benefit to other family members.

How has the debate progressed over the last decade? Clinicians generally seem more sympathetic to retaining a child’s autonomous choice and delaying testing wherever possible. Research presented at the meeting by Professor Kris Dierickx revealed significant variations between European countries, with Southern and Eastern European countries being more likely to carry out carrier testing at the request of a parent than Northern and Western European ones. Within Northern and Western Europe there were also variations – with the UK tending to test a minor two years earlier than in Germany or France, suggestive that the UK Gillick case promotes a competence based assessment. The consensus from the meeting was that imposing a strict age limit for genetic testing (as in Australia) is generally inappropriate. Empirical evidence from Australia presented by Dr Rony Duncan demonstrated the benefits of testing of young adults for Huntingdon’s disease.

Despite calls in 1994 for prospective and retrospective psychosocial research on the genetic testing of children, it was generally acknowledged that evidence remained sketchy and that more research is urgently needed. The 1994 guidance identified genetic testing of children undergoing adoption as a potential ‘special case’ for testing. It was generally felt that these special justifications were less clear cut than they had been in the 1990’s. Those attending the meeting felt that many of the difficulties encountered in the context of adoption could be addressed by better education of professionals involved and more understanding of institutionalised cultural differences between agencies.

17 July 2007The UK’s House of Commons Select Committee on Science and Technology has announced that it will conduct an inquiry into scientific developments relevant to the 1967 Abortion Act. The inquiry will not be concerned with the moral and ethical isses surrounding abortion, but with scientific evidence that has a bearing on the current legal limit for abortion (24 weeks’ gestation), the potential impact of relaxing current restrictions on early-stage (first trimester) abortions, and the beneficial or adverse health outcomes associated with abortion.

Scientific advances in genetics and genetic diagnosis are likely to come within the scope of the inquiry, as the stage at which diagnosis can be carried out may be relevant to the legal time limit for abortion. Clinical geneticists may also wish to contribute to discussion of “whether a scientific definition of serious abnormality is required or desirable in respect of abortion allowed beyond 24 weeks”.

Written evidence should be sent to the Committee by 2 September and oral evidence sessions will begin in the autumn. 

13 July 2007Three European research institutes (the University of Nijmegen in the Netherlands, the University of Tuebingen in Germany, and the NHS Regional Genetics Laboratory in Birmingham, UK) are joining with commercial company Affymetrix to form the European Cytogenetic Research Initiative. This is a collaborative project to use microarrays (also known as DNA chips) to study chromosomal abnormalities linked to mental retardation in children.By examining genetic material at higher resolution than is possible using conventional cytogenetic analyses, the researchers expect to identify more abnormalities; currently, it is not possible to identify the cause of learning disability in children in a large proportion of cases, but making a diagnosis can be of great value to families, including for improved clinical management.

Olaf Riess of the University of Tuebingen commented: "With this technology, we expect to find a much higher number of causal de novo deletions and amplifications than we could with the current gold-standard methods like karyotyping" (see press release). However, the difficulty may lie not so much in identifying chromosomal mutations and rearrangements as with establishing a definitive causal link between a given abnormality and the observed clinical phenotype of the child.

The use of array-based technology for the diagnosis of learning disability has recently been explored by a UK Genetic Testing Network (UKGTN) working party; the report, Evaluation of array-CGH for chromosomal abnormalities in clinical practice, is available from the PHG Foundation website.

13 July 2007According to a paper presented at the annual meeting of the European Society of Human Reproduction and Embryology earlier this month (see press release), an increasing number of couples are travelling abroad within Europe to seek preimplantation genetic diagnosis (PGD). The paper summarised the results of a study funded by the European Commission.

The study found that, frequently, the reason for ‘PGD tourism’ is that treatment is illegal in the couple’s home country. Although free movement to seek services within Europe increases patient choice, there are fears that inconsistent regulation and quality control of PGD could potentially cause harm. For example, lack of monitoring and long-term follow-up of patients could mean that problems arising from the treatment may be missed. Although full implementation of the EU Tissue and Cells Directive should help to harmonise regulatory standards, it appears that at present some centres offering treatment fall short of these standards; moreover, only about a third of centres participate in professional external quality assessment schemes.

The presenter of the paper, lawyer James Lawford Davies, said that couples forced to travel abroad for treatment also often lack adequate support from clinicians in their own country, who fear prosecution if they assist the process in any way. He commented that, as prenatal diagnosis with the option of abortion is available, in at least some of these countries, for couples at risk of having a child with a serious genetic disorder, it might be reasonable for them to consider whether they could regulate PGD rather than banning it altogether.

12 July 2007A report published by the University of Michigan’s CS Mott Children’s Hospital National Poll on Children’s Health claims that 54% of the 1500 people who responded to the poll (out of a total of just over 2,000 questioned) thought that genetic testing for disease risk was worthwhile even in the absence of an effective treatment, while 30% would want genetic testing for themselves or their children only if an effective treatment were available. Opinion was fairly evenly divided on the question of whether parents would want their children’s DNA to be banked in a government facility so that testing could be carried out in future if a test linked to an effective treatment became available: 38% were willing, 33% unwilling and 29% unsure Those who carried out the poll speculate that reluctance to allow DNA to be stored for future testing could reflect concern about the potential for unfair discrimination, despite the likelihood that the US Federal Government will soon pass the Genetic Information Non-discrimination Act (see recent newsletter article).

The premises on which this poll was based merit some comment. The report of the poll’s findings states that Government-sponsored DNA biobanks such as UK Biobank aim to contact people in future if genetic tests become available from which they might benefit clinically. This is not the case: UK Biobank is a research resource only, and no results from the project will be fed back to participants. Nor will samples stored in Biobank be used for any clinical purpose.

The poll’s implication that parents have the right to decide to have their child’s DNA tested without any clear clinical purpose is also questionable. Professional guidelines on genetic testing of children generally discourage testing unless it is in the child’s current interests to have a test on which clinical management depends (see for example, the 1994 guidelines of the British Society for Human Genetics). In all other circumstances, ethicists and geneticists consider that testing should be deferred until the child him/herself can make an informed autonomous judgement. In the UK, taking and storing of children’s samples for DNA testing comes under the provisions of the Human Tissue Act and the Mental Capacity Act and would be unlikely to be legal in the sorts of circumstances described by the US poll. 

5 July 2007The company deCODE Genetics is selling a genetic test for two gene variants that increase the risk of atrial fibrillation, itself a cause of cardiogenic stroke. The evidence for the association between the two variants and stroke risk will be published in a paper scheduled to appear in Nature magazine [Gudbjartsson DJ et al Nature advance online publication 1 July 2007 | doi:10.1038/nature06007].

The study reported in the Nature paper was a genome-wide association study involving a total of 23,000 subjects of European origin and a follow-up study in Han Chinese. According to the paper’s summary, the two variants, both single nucleotide polymorphisms located on chromosome 4, increase the risk of atrial fibrillation by 72% and 39% per copy in Europeans. The variants are common: about 35% of Europeans carry at least one of them; in Chinese, of whom 75% carry the stronger variant, risk of atrial fibrillation is increased by 42% per copy.

According to deCODE’s press release, “the company believes that testing for these variants will provide doctors with a targeted and cost-effective means of identifying those who should be intensively monitored for AF”, and that the test has “immediate clinical application”. They suggest that “doctors may now be able focus monitoring on those most likely to have transient AF and then match therapy to the etiology of an individual’s disease”. However, caution is needed before such a test is ready for clinical application. Careful evaluation in a clinical research setting is essential to assess the test’s performance and to determine whether its use leads to improved clinical outcomes.

4 July 2007The UK’s NHS National Genetics Education and Development Centre has developed a resource of ‘real life’ stories of the experiences of patients and their families, carers and health professionals in dealing with the impact of genetic conditions on their lives or professional practice. The resource, called “Telling Stories: Understanding Real Life Genetics”, consists of interview transcripts augmented by suggested activities, highlighted ‘points for reflection’, key quotes, links to selected websites and, in some cases, video clips. It is aimed at people studying to become health professionals, those seeking in-service professional development, and people teaching on pre-or post-registration training programmes.

Stories can be selected by searching one of six key themes: genetic conditions, inheritance, genetic intervention, issues raised, professional role, and nursing competence. Within each theme, the stories are organised to highlight key teaching points and present these points in a structured way. For example, within the ‘issues raised’ theme, stories are grouped under the headings ethical issues, cultural issues, reproductive choices, communication, care and management, the family as expert, impact on family, friends and community, education and awareness, and genetics knowledge for practice. The resource is designed particularly to relate to the Nursing Competences for Genetics developed by the Genomics Policy Unit at the University of Glamorgan.

Those using the resource are encouraged to send their feedback and to help contribute to the resource by suggesting new stories that could be added.

3 July 2007As part of its Roadmap strategy to tackle major opportunities and gaps in biomedical research, the US National Institutes of Health has published its latest list of priority research areas that cut across all 27 of its constituent institutes and centres. There is a clear focus on genomics, with major roadmap initiatives (consisting of multiple, coordinated projects) over the next 5 years in epigenetics, tools for proteomics, studies on the microbiome (the microbial content of the human body), and services and tools for phenotyping. Calls for applications for funding under these initiatives are expected to go out in autumn of this year, with awards made during summer 2008.

A smaller ‘roadmap pilot study’ will be funded on the ‘genetic connectivity map’, which will aim to “discover and demonstrate the linkage between diseases, drug candidates and genetic manipulation”.

In addition, Roadmap Coordination Groups will assess the current status of research in three other broad areas – regenerative medicine, pharmacogenetics and bioinformatics – and will make recommendations about future support for projects or collaborations to bring together researchers working on different organ systems or diseases.

2 July 2007A team of scientists led by Dr Craig Venter of the J. Craig Venter Institute (JCVI) in the US have published work reporting the transplant of a bacterial genome from one species to another [Lartigue C et al. (2007) Science online DOI: 10.1126/science.1144622 (abstract)], effectively changing the second bacterium into a copy of the first. This is reported as being “a step toward propagation of synthetic genomes”, and certainly represents a proof of principle demonstration, but in practical terms it seems unclear how far the work can be translated into other species. It is not certain that the process can be easily replicated even using the same species.

Critics are opposed to experiments aimed at the artificial creation of life; ethical concerns include fears that this sort of research could easily be applied in the creation of tools for bioterrorism. Craig Venter says that their hope is to create ‘designer’ microbes for useful purposes such as the production of biofuels. The JCVI states that they remain “concerned with the societal implications of their work and the field of synthetic genomics generally” and say that a report into the risks, benefits and possible safeguards against abuse of synthetic genomics will be released in summer 2007 (see press release).

2 July 2007The Government published its formal response to the House of Commons Science and Technology Committee’s report on the regulation of hybrid and chimera embryos on 18 June 2007. Given the demonstrable shift in the Government’s approach to inter-species embryos as evidenced by the publication of the draft Human Tissue and Embryos Bill in mid May, which allows inter-species hybrids and chimeras to be created for research purposes, subject to the research being necessary and desirable, this formal response holds few surprises. However, it does make clear that the Government rejects the Science and Technology Committee’s call for the creation of a Parliamentary Standing Committee on Bioethics, on the grounds that this would be unnecessary.

The report also welcomes the engagement of other stakeholders, such as the Academy of Medical Sciences, which published its report on inter-species embryos last month (see previous news story). It also points to wording in the draft Bill designed to minimise the possibility of dual regulation of hybrid and chimera embryos by the Human Fertilisation Embryology Authority (HFEA) and the Home Office and signals that if research licences are granted before the draft Bill reaches the statute books, a legal challenge to the HFEA’s authority ‘may well be made, and that, it might lead to the courts clarifying the extent of the HFEA’s remit under current legislation’.

30 July 2007A new paper in the New England Journal of Medicine (NEJM) reports the results of a genome wide association study (GWA) conducted by members of the International Multiple Sclerosis Genetics Consortium. These results, the latest in a series of highly-powered, large-scale genetic association studies for common, complex diseases, were based on combined data from genetic analysis of more than 12,000 subjects [NEJM July 29 2007, doi: 10.1056/NEJMoa073493 (abstract)]. The initial study looked at the association between more than 300,000 single nucleotide polymorphism (SNP) markers across the genome in over 900 family trios (an individual affected by multiple sclerosis and their parents). This was followed by genotypic analysis of over 600 more family trios, over 2300 further affected subjects and almost 800 control subjects. Two additional control datasets were included in the final combined analysis.

All of the SNPs that showed a significant association with multiple sclerosis (MS) fell within the HLA region, a genetic locus previously linked with the disease by multiple studies. The most strongly associated SNPs were identified within the IL2RA (interleukin-2 receptora) gene, the IL7RA (interleukin-7 receptor α gene) and the major histocompatibility complex (MHC) class II region gene within the HLA-DRA locus; neither the IL2RA nor IL7RA genes have previously been linked with MS risk. The IL-2 receptor has been linked to two other forms of autoimmune disease (type 1 diabetes and autoimmune thyroid disease), whilst the IL-7 receptor is thought to be involved in the regulation specific immune response cells. Together, these results support previous findings that suggest that multiple sclerosis is an autoimmune inflammatory disorder, and that certain variants of genes involved in theregulation of immune responses represent risk factors for the pathogenesis of MS.

Additional reports from the same study published in the journal Nature Genetics discuss the link between the IL7RA gene variant and multiple sclerosis [Gregory SG et al. Nature Genetics 29 July 2007, doi:10.1038/ng2103 (abstract); Lundmark F et al. Nature Genetics 29 July 2007, doi:10.1038/ng2106 (abstract)].

Comment: This study differs from some recently reported GWAs, in that it supports the findings of previous genetic association studies, which also pointed to variations within the MHC genes being most strongly associated with disease risk. It also extends knowledge by identifying two new genetic associations. Although the risks conferred by the two common polymorphisms in the IL2RA and IL7RA genes are very small, and researchers anticipate that many more risk-associated genetic variants will be identified in future studies, this link has provided valuable information about possible pathogenic mechanisms involved in MS, and further underlined the value of large scale genome-wide association studies. With increasing capacity to identify genetic polymorphisms that individually confer minimal disease risk, the future challenge is likely to be making sense of these data by relating it to possible disease pathways and therapeutic interventions.

2 July 2007Genomics: Encyclopaedia of humble DNA. Greally JM (2007) Nature 447(7146):782-3. News and Views article accompanying ENCODE report (see journal club article) suggesting that the human genome may function quite differently from previous suppositions (PubMed).

UK Biobank: bank on it. Palmer LJ (2007) Lancet 369(9578):1980-2. Commentary on the prospects of the Biobank project, including results from the pilot study, noting the necessity for harmonization and data-sharing between different biobanks via the P3G and HuGENet networks (PubMed).

Governing Genetic Databases: Collection, Storage and Use. This July issue of King’s Law Journal is a special symposium issue, including papers on the ethical challenges of genetic databases and biobanks, including issues of consent, international collaboration, medical research and the public good.

Should genetic information be disclosed to insurers? Yes. Holm S (2007) BMJ 334(7605):1196. ‘Head to head’ debate article (PubMed).

Should genetic information be disclosed to insurers? No. Ashcroft R (2007) BMJ 334(7605):1197. ‘Head to head’ debate article (PubMed).

Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease. Rodriguez S, Gaunt TR, Day IN (2007) Hum Genet. May 30; [Epub ahead of print].Review of growth hormone pathway genes and their association with disease phenotypes (PubMed).

The clinical role of genetic polymorphisms in drug-metabolizing enzymes. Tomalik-Scharte D, Lazar A, Fuhr U, Kirchheiner J (2007) Pharmacogenomics J. Jun 5; [Epub ahead of print]. Review of the potential application of genotyping prior to the use of drugs for a range of conditions from cardiovascular disease to TB (PubMed).

Genomics: guilt by association. Bowcock AM (2007) Nature 447(7145):645-6. News and Views piece on the ground-breaking Wellcome Trust Case Control Consortium (WTCCC) genomic association study (PubMed).

Stem cells: recycling the abnormal. Colman A, Burley J (2007) Nature 447(7145):649-50. News and Views piece on new method to create donor-specific embryonic stem cells, and potential applications in humans (PubMed).

Replicating genotype-phenotype associations. NCI-NHGRI Working Group on Replication in Association Studies et al. (2007)Nature 447(7145):655-60. Feature article proposing best practice methods for the reporting of initial and replication genotype-phenotype association studies (PubMed).

The hard cell. Lewis R (2007) Nature 447(7145):748-9. Special report on international opportunities in stem cell medicine (PubMed).

Genetic association studies of cancer: where do we go from here? Rebbeck TR, Khoury MJ, Potter JD (2007) Cancer Epidemiol Biomarkers Prev. 16(5):864-5. (PubMed).

Cystic fibrosis. Wicks E (2007) BMJ 334(7606):1270-1.Personal view of living with CF (PubMed).

The stem-cell market - patents and the pursuit of scientific progress. Murray F (2007) N Engl J Med. 356(23):2341-3. Perspectives piece (PubMed).

MicroRNAs and the failing heart. Mann DL (2007) N Engl J Med. 356(25):2644-5. Clinical implications of basic research piece on the role of microRNAs in heart failure, and therapeutic prospects for this new research (PubMed).

Gene therapy for Parkinsons’s disease: early data. Stoessl AJ (2007) Lancet 369: 2056-2057. Commentary accompanying article on preliminary results from a pilot gene therapy trial (PubMed).

Molecular evidence-based medicine: evolution and integration of information in the genomic era. Ioannidis JP (2007) Eur J Clin Invest. 37(5): 340-9. Discussion article on the convergence of evidence-based and molecular medicine, calling for greater integration of research efforts in public cyberspace (PubMed).

DNA synthesis.Gene-synthesis companies join forces to self-regulate. Bhattacharjee Y(2007) Science 316(5832): 1682. Commentary proposing guidelines for screening and handling DNA orders (PubMed).

The latest Nature Insight is a special focus on DNA replication and repair:

DNA replication and repair. Eggleston AK (2007) Nature 447(7147): 923. Editorial (PubMed).

Replication and protection of telomeres. Verdun RE, Karlseder J (2007) Nature 447(7147): 924-31. Discussion of how telomeres interact with DNA replication and damage-repair systems (PubMed).

Expandable DNA repeats and human disease. Mirkin SM. Nature 447(7147): 932-40. Review looking at the role of expanded DNA repeat sequences in disease (PubMed).

Base-excision repair of oxidative DNA damage. David SS, O'Shea VL, Kundu S (2007) Nature 447(7147): 941-50. Review looking at the mechanism of this form of DNA repair and links with human cancer (PubMed).

Chromatin dynamics and the preservation of genetic information. Downs JA, Nussenzweig MC, Nussenzweig A (2007) Nature 447(7147): 951-8. Review on the role of chromatin in cellular responses to DNA damage (PubMed).

Ethics of collecting and using healthcare data. Wade D (2007) BMJ 334(7608): 1330-1. Editorial piece arguing that ethical oversight of patient data should generally be the responsibility of the bodies involved, with ethics review committees involved with only the most complex situations (PubMed).

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