In the news

  • Newsletter Edition
The PHG Foundation monthly newsletter features news and views about genetics and genetics research, from a public health perspective. The newsletter is written by staff of the PHG Foundation.

In the news

News story   |   By Dr Ireena Dutta   |   Published 29 August 2006

The main funders of stem cell research in the UK have warned of the dangers of the “extravagant claims” made for stem cell treatments that are currently only available abroad. In a letter to The Times newspaper, groups representing fourteen research funders and medical charities such as the Medical Research Council, Parkinson’s Disease Society and Juvenile Diabetes Research Foundation, caution patients attracted by the claims of foreign companies offering stem cell-based ‘cures’ for conditions such as multiple sclerosis or for cosmetic procedures. They highlight the fact that the results of these procedures and the methodologies involved have not been published in any scientific journals and therefore have not been subject to the rigorous peer review process that most other scientific research goes through. The group also warns that, “these unproven treatments could be dangerous, potentially exposing patients to the risk of uncontrolled and inappropriate tissue generation” and advises anyone considering such treatment to seek advice from their consultant or GP first.


The authors of the letter emphasise that certain medical treatments using stem cells, such as corneal repair or bone marrow transplantation, are well established in the UK and that there is now a concerted effort to facilitate the translation of research into further clinical applications. However the unsubstantiated claims of overseas-based clinics may jeopardise public confidence in the field and the authors conclude with their worry that, “those who are cutting corners risk discrediting the field as well as betraying patients”.

News story   |   Published 23 August 2006

UK Biobank, the UK’s project to create a database of genetic, environmental and lifestyle data for use by medical researchers, has been given approval to begin work nationally (see BBC news story). The project, funded by the Medical Research Council, the Wellcome Trust, the Scottish Executive and the Northwest Regional Development Agency, aims to obtain DNA samples and other information from 500,000 adults aged 40-69 (see previous news story). The resulting database will be available for researchers to study genetic and environmental causes of disease.

The project had undergone a three-month pilot phase in Manchester, hosted by the University of Manchester, in order to test out the protocol (i.e. arrangements for recruitment, the taking of samples, etc.) An independent panel, set up by the funders, has now assessed the results of the pilot phase and unanimously agreed that the project should go forward. According to a press release, the panel agreed that, “UK Biobank has the potential, in ways that are not currently available elsewhere, to support a wide range of research, particularly investigations into complex interactions of various exposures, including genetic and lifestyle factors in the pathways to disease and health” and that it would be held up as a gold standard across the world.” The mechanics of the project were examined closely and the panel was impressed by the new standards created for automated blood sample processing and storage and the computerised system to track samples. Also much work has gone into the ethics and governance arrangements for the project, ensuring that the data is collected in a responsible way, with full informed consent from participants and adequate protections placed on confidential information.

Now that the protocol has been approved, a three-to-four year recruitment phase will begin, with 35 centres in England, Scotland and Wales, each open for a six-month period, recruiting participants and collecting data, in order to collect a representative sample of the UK’s population. Professor Rory Collins, UK Biobank’s Principal Investigator, is understandably pleased with the results of the panel review. “Clearly, everyone at UK Biobank is delighted with the support and enthusiasm that this unique public health project has received from the funders and, in particular, from the eminent independent experts who scrutinised every detail of our protocol and plans…For decades to come, the UK Biobank resource should provide researchers around the world with vital insights into some of the most distressing diseases of middle and old age.”

News story   |   Published 21 August 2006

The Central Office for Research Ethics Committees (COREC) has announced the publication of an implementation plan for the future operation of the NHS research ethics committee (REC) system (see press release). This plan is in response to a consultation exercise held in early 2006 seeking opinions on recommendations made by the Ad Hoc Advisory Group on the Operation of NHS Research Ethics Committees published in June 2005.

Before any NHS-related research can begin, a proposed study must receive approval from an NHS REC. The REC system has had its detractors over the years and moves have been ongoing to improve the efficiency and consistency of the process. This latest plan will change the current REC system to a new ‘research ethics service’ where RECs will work in structured networks. Researchers will continue to submit applications for studies to COREC but, according to the new plan, those applications will be subject to a screening process. They will be screened to identify proposals that should not automatically be sent to a REC for review. These are:

  • Applications that fall outside of the remit of NHS RECs,
  • Proposals that are of poor scientific quality or are poorly presented,
  • Low-risk studies that have no apparent material ethical issues and
  • Studies that are of a complex nature or involve novel research methods.

RECs will receive the applications that require review while applications in the above categories will be dealt with at COREC. National Research Ethics Advisors (NREAs) will handle some of the screened-out applications. These expert individuals will, for example, contact researchers to ask them to reconsider their proposal (if it was deemed for instance to be of poor scientific quality) and provide appropriate advice. If the NREA decides that the proposal needs a full REC review, the application will be referred as appropriate. If the NREA sees no material ethical issues and the proposed study is ‘low-risk’, the application will be sent to an executive sub-committee for a ‘fast track’ review. These reviews will be carried out by executive sub-committees comprised of a small number of people, experts and laypersons, via audited email communications and documented telephone conversations. Committees will be made of up current REC chairpersons or experience REC members.

The aim of these changes is to increase the efficiency and reduce the bureaucracy of the REC system, by allowing RECs to concentrate only on applications within their remit. This should reduce the number of provisional opinions RECs give, where further information or clarification is needed before a final decision can be made, thus increasing the number of applications a REC can process at any one meeting.

The Ad Hoc Advisory Committee had recommended other measures such as moving to a smaller number of RECs and paying REC members for their increased time commitment. This has not been adopted, however possible changes to the payment structure for REC members will be considered further. With the introduction of the new service it is expected that the number of RECs will continue to decline, down to 120 RECs in December 2006. The new screening process will be piloted over the rest of 2006, and if successfully, will be fully implemented in 2007 and beyond.

News story   |   By Dr Philippa Brice   |   Published 17 August 2006

The Nuffield Council on Bioethics has published a major Supplement to the 1993 Report Genetic Screening: ethical issues. The Supplement was produced by a Working Group established to review the and update the original Report in the light of the various scientific, technological and policy-related developments over recent years, although it was concluded that the ethical analysis of the Report was still relevant in its original form. In addition to scientific, clinical and technological advances, key developments over the last thirteen tears include the general growth in the provision of genetics services both nationally and internationally; the Government’s 2003 Genetics White Paper and the impact it has had on the NHS; and the establishment of the UK National Screening Committee and the Human Genetics Commission (HGC).

With respect to genetic screening, most of the growth in recent years is noted to have been via the expansion of restricted or pilot screening programmes, as opposed to the introduction of completely new schemes. The inherent difficulty of developing tests for genetic susceptibility to common complex diseases such as coronary heart disease and diabetes (that have multiple contributory genetic and environmental factors) is noted; and although the possibility that such tests may eventually become available exists, the Supplement concludes that this is not likely within the next few years and that “the potential of screening to improve health should not be exaggerated, since this could lead to false assumptions and unnecessary anxiety”.

Consent to participation in a genetic screening programme is considered, along with the question of whether (and when) suitable genetic counselling should be offered. It is recommended that counselling should be “concentrated on those conditions that threaten life or have a serious impact on the ability to live life fully”, with concern being raised that excessive obligations with respect to consent and counselling could hamper the introduction and maintenance of screening programmes. The Supplement also endorses the continuation of the current moratorium restricting the use of genetic test results by insurance companies in the UK.

Both the Supplement and the 1993 Report are available from the Nuffield Council on Bioethics website.

News story   |   Published 17 August 2006

Two high-ranking US Senators have introduced bipartisan legislation designed to overhaul the US patent process. Sen. Orrin Hatch, Republican senator from Utah and Sen. Patrick Leahy, Democratic senator from Vermont have together crafted a patent reform bill “…that would overhaul the U.S. patent system by implementing new, streamlined international standards, updating the existing patent code, and bringing clarity to the complicated administrative review process.” (see press release).

According to the senators, this bill is the result of two years of hearings, meetings and debates (see news story). Perhaps the most significant provision in the bill calls for a major change in the US system, shifting from a ‘first-to-invent’ system to a ‘first-to-file’ system. This would bring the US in line with other systems such as that in Europe. The issue is one of novelty and disclosure [see French H. Nat Rev Drug Dis 3:469]. One of the requirements to be awarded a patent is that the product or process must be novel. In Europe if an invention is disclosed prior to applying for a patent, it enters the public domain and is no longer novel. Therefore the patent application must be filed early in the process, hence ‘first-to-file.’ Conversely, a ‘first-to-invent’ system allows an inventor to disclose the invention as long as they file their patent application within a specific period of time after that disclosure. This allows more time for the inventor to have their product and processes in place prior to filing. The ‘first-to-invent’ system has been criticised because, if two or more groups claim patent rights, it is difficult to prove who has priority. With a ‘first-to-file’ system, the priority date assigned to the application clearly indicates when it was filed. However, critics are concerned that a ‘first-to-file’ system would hurt smaller inventers who cannot file quickly and might need more time to produce the data needed for a successful application.

The bill also addresses standards for damages, would create a ‘post-grant review procedure’ to review claims that demonstrate real economic harm, and introduces new restrictions on the courts where patent cases are filed to limit ‘forum shopping.’ According to Sen. Leahy, there is a sense that the US, by virtue of its complicated patent system, is falling behind other countries. “This legislation is not an option, but a necessity.…To preserve and build on our position as the global leader in intellectual property and technology, we need to be looking ahead and moving forward, and this bill is our first step.” The senators expect the bill to go through further changes when it comes up for debate in the Senate Judiciary Committee.

News story   |   Published 16 August 2006

A new report commissioned by the Pharmacy Practice Research Trust and funded by the Royal Pharmaceutical Society of Great Britain cautions that people need to be realistic in their expectations regarding the genomic medicine revolution, recognising that it will be slower in arriving then had been promised (see press release).  The “…high hopes for the translation of medicine — through genetic testing, gene-based drugs, stem cells, gene therapy and other new developments — are the result of hype rather than realistic expectations.”  


‘Realising the Potential of Genomic Medicine,’ is authored by Dr Paul Martin and Michael Morrison at the Institute for the Study of Genetics, Biorisks and Society at the University of Nottingham.  The report focuses on key areas of genetic and genomics: molecular diagnostics; pharmacogenetics and pharmacogenomics; and new biological therapies, such as gene and stem cell therapies.  The report explores each and provides realistic expectations for their entrance into clinical use.  The authors see new medicines and diagnostics entering the market, particularly therapeutic protein drugs and genetic tests for monogenic disorders.  They also see a small rise in pharmacogenetic drugs/tests, genetic and biomarker based diagnostics for common conditions, adult stem cell therapies (based on haematopoietic stem cells) and pharmacogenomic drugs.  But gene therapies, human embryonic stem cell therapies and cancer vaccines will be slow to enter clinical practice.  The report also examines the changing pharmaceutical industry, the move to over-the-counter drug sales, the development in genetic services and the changing NHS.


The authors conclude that stakeholders need to be realistic as to the scale of innovation in genomic medicine and the speed at which it will arrive.  They must realise that biomedical innovation is a slow and incremental process as opposed to a ‘revolution.’  “In general, it is not the lack of public support, adverse media reports or excessive regulation that holds back the development of new medicines, but the very significant scientific and technical problems involved.”  Acknowledging this fact will help enable stakeholders to understand which innovations are likely to affect them in the medium term and be better placed to adopt them effectively.


News story   |   Published 16 August 2006

Sen. Barack Obama, a Democratic senator from Illinois, has introduced a bill entitled, ‘Genomics and Personalized Medicine Act of 2006’ (see press release). According to Sen. Obama, this bill “…will help scientists tap the power of genomics to find treatments for diseases that afflict millions of Americans each year.” He notes that the completion of the Human Genome Project has led to the goal of personalised medicines for individuals. This could be realised through pharmacogenomic studies of how genes affect how a person responds to drugs. In order to support these initiatives, Sen. Obama’s bill would allocate $150 million (~£79 million) for research to collect genetic data to advance genomics and personalised medicine research. Specific research areas listed in the bill include systematic review and synthesis of the results of population-based studies and comprehensive studies of the clinical utility of molecular genetic tests and therapeutics. The bill recommends a national biobanking research initiative and a national biobanking distributed database to facilitate the pooled analysis of the genomic and associated environmental and clinical data collected. The bill calls for improvement in the current oversight and regulation of genetic tests, including investigation into direct-to-consumer marketing of tests. It seeks a definition for race and ethnicity for use in genomic research and looks to increase access to pharmacogenomic and other clinical genetic services for minority populations. The bill ends stating that the ‘sense’ of the US Senate is that personalised medicine can only be successful if individuals are protected from discrimination based on the results of genetic tests and calls for “…adequate privacy protections, including a Federal prohibition against genetic discrimination…” to be put in place.

The bill has been referred to the Senate Committee on Finance; there is no indication when it will be placed on an agenda for further discussion.

News story   |   By Dr Philippa Brice   |   Published 10 August 2006

The US Federal Trade Commission (FTC), a US body that seeks to prevent fraudulent, deceptive, and unfair business practices in the marketplace, recently issued new guidance for consumers on over-the-counter genetic tests, entitled: At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription. The FTC warns consumers to be wary of claims about the benefits of such genetic tests (which cost between about $100 and $1200). They note that companies’ claims about the tests – for example, that they can predict the risk of developing a particular disease, protect against disease by indicating individual nutritional requirements or assess a person’s ability to withstand certain environmental exposures such as cigarette smoke – are not substantiated.

According to the Food and Drug Administration (FDA), which regulates genetic tests; and the Centers for Disease Control and Prevention (CDC) “some of these tests lack scientific validity, and others provide medical results that are meaningful only in the context of a full medical evaluation”. For example, there are no valid scientific studies on the ability of most genetic tests to predict susceptibility to disease or environmental influences. Even where the stated ability of tests is accurate (for example, some of those that may predict how well an individual will respond to a particular drug), the FTC cautions that this information is no substitute for a proper medical evaluation by a trained health care professional, and could at best inform decisions by clinicians.

For individuals considering using an ‘at-home’ genetic test, the guidance notes that the FDA and CDC say that due to the complexities of both performing and interpreting genetic tests, they should be performed only in a specialized laboratories, and results should be interpreted by a doctor or trained genetic counsellor “who understands the value of genetic testing for a particular situation”. They urge consumers to discuss the possibility of testing and any results with a trained health care professional, and also to take steps to protect their privacy, as some genetic test providers may post results online or share personal information with third parties.

News story   |   By Dr Philippa Brice   |   Published 10 August 2006

Congressional investigators from the US Government Accountability Office (GAO) have added their voice to the recent warning over direct-to-consumer genetic tests by the US Federal Trade Commission (see previous news story), warning the public to beware. Nutritional genomics, or nutrigenomics, is a relatively new field that looks at how interactions between genes and diet may influence health. It is postulated that ‘personalized nutrition’, whereby analysis of genetic factors might be able to dictate the optimum healthy diet for different individuals, might one day arise from this sort of study, but the interactions between multiple genes, nutritional and other environmental factors are highly complex and as yet there is no validated evidence to support this sort of approach. However, some companies are already offering genetic tests that can reportedly provide individualised nutritional advice, and a congressional probe set out to investigate four of these internet based test providers using fictitious customer profiles, to see whether their claims were legitimate.

The advice provided was general, advocating a healthy diet and avoidance of smoking, but one company reportedly recommended a dietary supplement blend, costing more almost $2000 year, to repair damaged DNA (see GAO report). Not only was this claim totally false, but the ‘personalized’ supplement was also recommended to three different fictitious customers with different DNA, medical and lifestyle data. Another company recommended a nutritional supplement $1200 a year that proved to contain multivitamins that could be purchased in any pharmacy for around $35. The report concluded that providers of nutrigenetic tests “may mislead consumers by promising results they cannot deliver” and issue medical predictions that may either needlessly alarm or in some cases, falsely assure, consumers about their health. It called for improved regulatory oversight of the production and marketing of new forms of genetic test, adding that: “as demand for these new tests continues to rise, it will become increasingly important for consumers to have reliable information in order to determine which tests are accurate and useful”.

The Senate Special Committee on Aging (SSCA) held a special hearing on direct-to-consumer genetic tests, at which the GAO report was presented along with testimony from Kathy Hudson, Director of the Genetics and Public Policy Center, who described how such tests fall between gaps in the current regulatory framework for genetic testing in the US. The two federal agencies charged with regulating genetic tests (the FDA, which regulates tests as devices and the CMS, which regulates laboratories) also gave evidence to the Congressional hearing. The tests involved fall between these two agencies because they are developed in-house and as such have not been subject to pre-market review by FDA. Senator Gordon Smith, Chair of the SSCA, expressed his concern at potential for consumer harm and the current gaps in regulation. Asked by Sen. Smith whether FDA should plug these gaps by extending their oversight to in-house tests, Dr Steve Gutman, Director of the Office of In Vitro Diagnostics at FDA, concurred. FDA has now invited Clinical Data, the laboratory that conducts many of these tests on behalf of companies such as Sciona, to discuss the regulatory status of their tests.

Representatives from the gene-testing companies asserted that they provided an important service and had been unfairly criticized by the report.

News story   |   Published 9 August 2006

Swiss parents of an ill child have practiced a form of ‘reproductive tourism’ by traveling to Belgium to have PGD and tissue typing, which is illegal in Switzerland [Duke, K. Lancet 368;355-356]. Their new daughter, Elodie, was born from an embryo chosen to be a tissue match for her elder brother, Noah, who suffers from granulomatous disease. The siblings have undergone a bone marrow transplant procedure and Noah’s health is improving.


The story is controversial in two ways. First, Noah’s parents had to go to Belgium for the in vitro fertilization treatment, allowing them to bypass Switzerland’s ban. Swiss authorities are now debating whether PGD should be made legal in their country. Belgian law does not specifically prohibit PGD; it is neither sanctioned nor illegal. Many European countries have vague laws regarding PGD and this allows people from countries where it is illegal to find treatment elsewhere. Elodie was born in Switzerland and the treatment to help her brother was conducted in Geneva.


The second issue concerns the fact that Noah and Elodie both had to undergo a bone marrow transplant operation. In most cases where a sibling is created to help another, stem cells from the new child’s umbilical cord are transplanted into the elder child. The new child does not need to undergo an invasive and painful experience in order to help their sibling; this helps to justify their creation for people who may find it ethically problematic. However, Elodie was too small at birth and there were not enough stem cells in her cord blood for the transplant procedure. Therefore surgery was carried out. While both children have recovered from the procedure, opponents of PGD and tissue typing argue that a child should not be created simply as a means to an ends, to undergo invasive surgery for which they will derive no benefit. The UK Human Fertilisation and Embryology Authority has as one of their guidelines for approving requests for PGD that only cord blood should be taken.   Supporters of PGD and tissue typing counter that while it is the norm for only the cord blood to be used, bone marrow transplants between siblings are a common practice.

Research articles

Research article   |   By Dr Ireena Dutta   |   Published 24 August 2006

Human embryonic stem cell lines are currently derived using a protocol that involves the destruction of human embryos. Last year saw reports of a novel methodology that allowed stem cell line derivation to occur but also preserved the embryo as a viable entity that could then be implanted and develop normally. This technique was utilised in mice, and is similar to pre-implantation diagnosis (PGD), which is used to screen human embryos for genetic diseases such as cystic fibrosis during IVF treatment. It involves the removal of a single blastomere from the eight cell stage embryo, leaving the embryo with full developmental potential if implanted. In PGD this single cell would then be analysed for genetic defects, but in the report by Chung et al. it was used to derive embryonic stem cell lines (see previous newsletter item).

A new publication by Klimanskaya et al., reports on the first derivation of human embryonic stem cell lines using this methodology. The research team from biotechnology company Advanced Cell Technology began with sixteen embryos that were produced during IVF treatment but were surplus to requirements. Of these embryos, six were of a high quality with little cytoplasmic fragmentation. Single blastomeres were separated from each embryo and cultured, with 58% dividing at least once. Of these, approximately half went on to form outgrowths within two days.

Within these outgrowths the researchers observed three distinct cell fates: i) cells that resembled trophoectoderm, ii) cells that initially resembled ES cells, but which then went on to differentiate, and iii) cells that behaved as ES cells and which continued to proliferate without differentiation. The researchers report that a total of two stable stem cell lines with normal karyotype were generated from the six high quality embryos. These cell lines were shown to readily differentiate into a variety of cell types when allowed to do so, and their pluripotency within an organism was confirmed by their ability in mice to form teratomas containing tissue from all three germ layers.

Although the blastomere-derived stem cells were observed to differentiate at the same rate and in the same manner as conventionally derived hES cell lines, the authors point out that further study is required to determine whether the new cell lines differ in their ability to form fully functional differentiated cell types.

Comment: While this new technique appears to overcome one of the major ethical objections to the current method of creating hES cell lines - namely the destruction of the source embryos – it will not provide a morally unproblematic solution that is acceptable to all. Criticisms of the new method include: the possiblility of causing damage to the embryo during cell removal, the inability of the embryo to consent to the procedure, the low success rate compared with the number of starting cells, and the fact that because the procedure relies upon IVF there will still be the destruction of many ‘surplus’ embryos and those identified as having genetic defects. Some commentators however are encouraged that researchers are continuing to investigate new procedures which aim to address the major ethical objections to human embryonic stem cell research.

Human embryonic stem cell lines derived from single blastomeres  Irina Klimanskaya, Young Chung, Sandy Becker, Shi-Jiang Lu and Robert Lanza  Published online 23 August 2006

 This article was written by Ireena Dutta and Simon Leese.

Keywords : journal

Research article   |   By Dr Philippa Brice   |   Published 7 August 2006

Identification of links between specific genetic variants and disease has a clear benefit for medical research; even for ‘complex’ diseases, influenced by multiple different genetic and environmental factors, finding specific genetic associations can aid understanding of disease processes and the development of treatments and therapies. However, the degree to which it may become possible to use such information to predict the risk of complex diseases based on genotypic information is the subject of considerable controversy. Predictive genetic profiling (the testing of multiple genetic loci for the presence of risk-associated variants) is the basis of the much-discussed concept of ‘personalized medicine’. A new paper in the journal Genetics in Medicine reports the results of a study that used simulated data to model whether such profiling might be clinically useful [Janssens AC et al. (2006) Genet Med. 8, 395-400].

For useful disease prediction, a test must discriminate between those who will develop a disease and those who will not. Genetic profiling may be considered as a continuous test where each genetic locus is associated with the risk of disease, and each cut-off value of the continuous test result defines positive and negative test outcomes. Janssens and colleagues used a measure of usefulness termed the discriminative accuracy, or AUC. In simplistic terms, this is the probability that a test will correctly identify the diseased subject from a pair where one is affected by the disease and the other is not. An AUC of 0.5 indicates a total absence of discrimination, and an AUC of 1.0 indicates perfect discrimination.

The researchers found that the discriminative accuracy of genetic profiling increased with the total number of genes analysed, and was higher when the genes were stronger predictors of disease risk, or the risk-associated alleles were more common. Overall, the simulation indicated that good or even excellent discriminative accuracy (AUCs of 0.8-0.95) could potentially be obtained from genetic profiling for variants that individually conferred only small increases in disease risk (eg. 1.5-fold relative risk). However, discriminative accuracy was higher for rare diseases; for example, excellent predictive ability for a disease with a population prevalence of 1% was calculated to be feasible if the genetic contribution to disease risk was 23% or higher, but the corresponding genetic disease component was reportedly 63% for a disease with a prevalence of 30%.

Comment: This study is a hypothetical, modelling exercise and thus has multiple limitations, as the authors are careful to point out. For instance, the potential effects of gene-gene and gene-environment interactions were not considered in the analysis. However, the results are nevertheless encouraging, suggesting that, for some complex diseases at least, genetic profiling might in the future become a useful tool in the prediction of disease risk – if sufficient genetic variants that contribute to risk can be reliably identified.

New reviews and commentaries

New reviews and commentaries, 8 August 2006

Reviews & commentaries : by Dr Philippa Brice

Overcoming barriers to recruitment in health research. Hewison J and Haines A (2006) BMJ 333, 300-2. Commentary proposing that the public should be included in debates over what constitutes their own best interests, and that ethics committees should avoid current preferences for ‘opt-in’ recruitment processes pending the outcome of such discussions (PubMed).


Side effects may include evolution. Cirz RT, Gingles N and Romesberg FE (2006) Nat Med. 12, 890-1. News and views article on recent research showing that some antibiotics can prompt the bacteriumStreptococcus pneumoniae to take up exogenous DNA, potentially accelerating the acquisition of antibiotic resistance and/or virulence genes (PubMed).


Preclinical applications of imaging for cancer gene therapy. Briat A and Vassaux G (2006) Expert Rev Mol Med. 8(16), 1-19. Review on the development on non-invasive technologies to monitor gene expression following gene therapy (PubMed).


Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Enklaar T, Zabel BU and Prawitt D (2006) Expert Rev Mol Med. 8(17), 1-19. Review of Beckwith-Wiedemann syndrome (BWS) including the associated genetic and epigenetic abnormalities (PubMed).


RNAi in moderation. Barik S (2006) Nat Biotechnol. 24, 796-7. News and views article looking at new evidence that excess RNA interference has potentially lethal effects, an important issue for the development of RNAi based therapeutics (PubMed).

Closing in on complex traits. Darvasi A (2006) Nat Genet. 38, 861-2. News and views piece on a new comprehensive analysis of complex traits in mice, and the insights this provides for insights into the genetic architecture of such traits (PubMed).

From worm genetic networks to complex human diseases. Bussey H, Andrews B and Boone C (2006) Nat Genet. 38, 862-3. News and views piece on the mapping of genetic interaction for the model organism Caenorhabditis elegans, and how similar networks may underlie the genetic basis of complex human disease (PubMed).

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New reviews and commentaries, 7 August 2006

Reviews & commentaries : by Dr Philippa Brice

This month sees the publication of a new commentary article on the newly established international public health genomics network GRAPH Int by members of the PHGU and international collaborators:


The path from genome-based research to population health: development of an international public health genomics network. Burke W, Khoury MJ, Stewart A and Zimmern RL, for the Bellagio Group (2006) Genet Med. 8, 451-8. Review of the challenges in using genome-based research for the benefit of population health and the need for an interdisciplinary knowledge integration process of public health genetics or genomics. This article also introduces the Genome-based Research and Population Health International network, GRAPH Int (PubMed) 

What is the clinical utility of genetic testing? Grosse SD and Khoury MJ (2006) Genet Med. 8, 448-50. Commentary on the concept of clinical utility of testing for genotypic variations associated with disease risk (PubMed).

Standards for systems biology. Brazma A, Krestyaninova M and Sarkans U (2006) Nat Rev Genet. 7, 593-605. Review considering issues of standardization in life sciences in general, and systems biology in particular (PubMed).


The makings of maleness: towards an integrated view of male sexual development. Wilhelm D and Koopman P (2006) Nat Rev Genet. 7, 620-31. Review on the genetic programmes governing male specific embryonic development, and defects of these processes (PubMed).


Evolution on the X chromosome: unusual patterns and processes. Vicoso B and Charlesworth B (2006) Nat Rev Genet. 7, 645-53. Review looking at differences in gene expression between the X chromosome and autosomes (PubMed).


The chromosome number in humans: a brief history. Gartler SM (2006) Nat Rev Genet. 7, 655-60. Perspectives article on the story behind the discovery of the true human chromosome number in the 1950s (PubMed).


Genetic variants and common diseases - better late than never. O'Rahilly S and Wareham NJ (2006) N Engl J Med. 355, 306-8. Editorial on journal article reporting a genetic association for type 2 diabetes [Florez JC et al], proposing that the field of genetic association studies for common complex diseases may be entering a highly productive phase (PubMed).


Confidentiality of personal health information used for research. Kalra D, Gertz R, Singleton P and Inskip HM (2006) BMJ 333, 196-8. Commentary on requirements for ensuring best practice in striking a suitable balance between the population benefits of health-related research and the privacy of research participants (PubMed).


Consent for the use of personal medical data in research. Singleton P and Wadsworth M (2006) BMJ 333, 255-8.Commentary on different models for gaining informed consent for clinical trials, emphasising the importance of providing genuine choice as opposed to merely ‘ticking the boxes’ for formal consent requirements (PubMed).

Genetic health technology and economic evaluation: a critical review. Jarrett J and Mugford M (2006) Appl Health Econ Health Policy 5, 27-35. Review on the use of standard health economic evaluation tools for healthcare based on genetic information, concluding that there is need for some further methodological development (PubMed).

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