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 Philippa Brice   |   Published 29 September 2005

The US Food and Drugs Agency (FDA) has recently approved the Invader UGT1A1 Molecular Assay for sale within the United States to identify patients who may be at increased risk of adverse reaction to the chemotherapy drug Camptosar (irinotecan). This test detects variations in the UGT1A1 gene associated with reduced activity of the corresponding enzyme UDP-glucuronosyltransferase, and hence with reduced ability to metabolise irinotecan, a drug used in colorectal cancer treatment.

Daniel Schultz, Director of FDA’s  Center for Devices and Radiological Health said: “This test represents the power of DNA-based testing to provide individualized medical care”, adding that it could “significantly improve patient management and reduce the risk of ineffective or even harmful drug therapy by telling doctors how to individualize drug dosing" (see press release).

This assay is the first pharmacogenetic test to be approved by the FDA for use as a companion diagnostic to a specific drug therapy; Camptosar has been re-labelled to include dosing recommendations based on a patient’s genetic profile.

News story   |   By Dr Philippa Brice   |   Published 28 September 2005
A new UK research collaboration, the Wellcome Trust Case Control Consortium (WTCCC), is to receive £9 million in funding from the Wellcome trust for research into genetic variants associated with eight complex diseases: tuberculosis (TB), heart disease, type 1 and 2 diabetes, arthritis, Crohn's disease, ulcerative colitis, bipolar disorder and hypertension. A total of 24 lead researchers at various centres including the Wellcome Trust Sanger Institute and the Universities of Oxford and Cambridge will study DNA samples from 2000 individuals with each disease, and compare this with samples from a single control group of 3000 healthy individuals. All of the DNA samples will be from UK residents, with the exception of TB for which the affected group comes from the Gambia. This will be the largest genome-wide association study of eight of the world's most common human diseases. In a secondary project, the WTCCC will also analyse a smaller number of genetic variations associated with a further four diseases: breast cancer, autoimmune thyroid disease, multiple sclerosis and ankylosing spondylitis.

Consortium chair Professor Peter Donnelly from the University of Oxford said: "If we can identify the common genetic triggers for these diseases, it will…leave us better situated to fully understand what happens with each of these diseases and who may be more likely to get them" (see BBC news report). It is hoped that this will result in not only improved understanding of the genetic contribution to disease risk, but also in new therapeutic developments.

News story   |   Published 23 September 2005

The Royal Society has released its report on personalised medicine. Personalised medicines: hopes and realities concludes that the field of personalised medicine has a promising future but that medicines personalised to the individual are still at least 15 to 20 years away.  Personalised medicine or pharmacogenetics is the study of how drugs react differently in different people, as a result of their genetic make-up. It also studies how people might be susceptible to infectious diseases in order that new drugs can be created (see BBC news 21/09/05). It currently has little impact on clinical practice, but as the technology advances the Report states, “…it is now possible to foresee genetic testing on a vary large scale and at a reasonable cost.” The Report notes that the promising examples are products that are used in the treatment of cancers and genetic tests will be used with drugs in order to determine whether or not that drug will be effective in the patient.


Sir David Weatherall chaired the working group. He stated, “Personalised medicines show promise but they have undoubtedly been over-hyped. With the human genome sequenced, some people are expecting personalied medicines within a few years, but the reality is still many years away. There are some examples around today, but the complex multiple causes of diseases mean it will be at least 15 to 20 years before a patients genetic make-up is a major factor in determining which drugs are prescribed.” (Royal Society 21/09/05). He also noted that introducing personalised medicines within the NHS will be an immense challenge. Training and awareness-raising is needed for health care professionals. There is also a shortage of qualified researchers with expertise in areas related to pharamacogenetics. Investment is needed now to lay the groundwork for the potential of personalised medicines in the future. This includes investment from private industry and governments must provide incentives to encourage pharmacogenetic investigations at a national and international level to be carried out on drug targets that might only affect a small number of people. There is also a need look at the issues surrounding the collection and confidentiality of and access to databases of pharmacogenetic patient data.


The Report predicts that pharmacogenetic products will enter mainstream healthcare within the next 20 years, but states that, “The major determinant of the rate of progress will be the clinical use and cost effectiveness of the new treatment regimes rather than development of the technology.”

News story   |   By Dr Ireena Dutta   |   Published 16 September 2005

It has been announced that leading stem cell researcher Professor Austin Smith will relocate from Edinburgh to the University of Cambridge in 2006. Professor Smith will become head of the newly established Institute for Stem Cell Biology, which will be located in the centre of the city. The Institute will bring together a range of leading researchers to create the foundation for moving stem cell biology towards clinical application.

Professor Smith is currently the Director of the Institute for Stem Cell Research in Edinburgh, and will initially share his time between the two locations before moving his laboratory to Cambridge in August 2006. His laboratory recently reported the first derivation of a pure population of neural stem cells (see earlier news story). His work in Cambridge will focus on embryonic stem cells, how they maintain their totipotent state, and the mechanisms involved in their development into specialist cells. Stem Cell Sciences Ltd, the company that was ‘spun-out’ from research carried out in the Smith lab, has also announced its intention to establish a research base in Cambridge.

Commenting on his appointment, Professor Smith said, “The Institute for Stem Cell Biology in Cambridge aims to be the flagship for European stem cell research. Although stem cell research is highly politicised in the U.S. there is still a lot more funding there. As we heard only this week from Professor Robert Winston, moving stem cell research towards the clinic is a challenging and long-term task. Concentrating resources to support outstanding scientists in an exceptional environment like Cambridge is the best opportunity to make real progress and compete globally”.

The Institute for Stem Cell Biology will form part of the Cambridge Stem Cell Initiative, which is led by Professor Roger Pedersen, another leading scientist who relocated to Cambridge from the United States. The Cambridge Stem Cell Initiative includes many eminent researchers active in a number of areas of stem cell biology and medicine, including epigenetics, cell signalling and developmental pathways, haematology, and neural repair.

Further details about the Cambridge Stem Cell Initiative and the Institute for Stem Cell Biology can be found at the website:

Keywords : Stem Cells

News story   |   Published 9 September 2005

The Human Fertilisation and Embryology Authority (HFEA) has announced it has granted a licence to a team of scientists at Newcastle University to use human embryos in research into the prevention of mitochondrial disease (see BBC news report). Mitochondrial structures provide energy to cells in the body. Mitochondria have their own DNA that is inherited from one’s mother. Faults in the DNA can cause human conditions called mitochondrial myopathies that cause muscle weakness and wasting. It is these conditions that the Newcastle researchers plan to study.  

The Newcastle team plan to remove the nucleus from a fertilised egg with faulty mitochondria and place it in an egg with healthy mitochondria, thus avoiding the transmission of the DNA that will cause the disease. This technique has already been proven in mice. US scientists have been using a similar technique since 2001 and report that 15 healthy children have been born. UK scientists will not be using their work to produce children. They will be conducting basic research only; no embryo created under the Newcastle licence will be allowed to develop into a child. Their original request for a licence for this work was rejected; the HFEA Appeal Committee approved the request after considering further evidence.


There is controversy around this decision. A child born of this procedure will have three genetic parents. Critics argue that this is modifying the germ-line, as this child will pass on this genetic modification to their children. Others respond that no children will be born of the Newcastle research and that mitochondrial DNA is not responsible for passing on any of the traits associated with inheritance, such as hair or eye colour. However, if such research is successful it might mean preventing people from having to suffer with these disabling genetic conditions. One in five thousand children and adults are at risk from suffering from a mitochondrial disease.


There is also a question of whether this procedure is illegal under schedule 2 of the Human Fertilisation and Embryology (HFE) Act 1990, which prohibits altering the genetic structure of any cell while it forms part of an embryo.” The HFEA Appeal Committee, according to the HFEA, was satisfied that the research was ‘necessary and desirable’ under criteria in the Act. The Government supports research into mitochondrial diseases and believes that, with a licence, it should be clearly permissible under law. In their consultation document on the review of the HFEA and the HFE Act, the Government addresses this question and is asking for comments from the public and stakeholders. People can give their opinions on this and other issues related to reproductive technologies and the current regulatory scheme. More information and how to respond can be found on the consultation web page.

News story   |   By Dr Philippa Brice   |   Published 7 September 2005

Debate over the genetic testing of employees continues in Germany with the release of recommendations by the German National Ethics Council, a government advisory committee, proposing that a new law be created to protect employees from genetic discrimination (see BMJ news report). Obligatory genetic testing for hereditary diseases as a condition of employment has been a controversial subject in Germany since the 2003 case of a teacher with a family history of Huntington’s disease who refused to undergo genetic testing to reveal whether she would develop the disease, and who was therefore refused employment. German law permits the rejection of job candidates for the civil service (within which there is life-time job security) on the grounds of ill health, but a court subsequently ruled in the teacher’s favour.

Currently, around 100,000 genetic tests are performed in Germany each year, many at the insistence of employers seeking to ensure that workers are not at risk of serious health problems. The council asserts that new legislation to protect employees from dismissal on medical grounds is urgently needed. It has recommended that forcible gene testing in the workplace should be subject to strict restrictions, although with potential exceptions for jobs where health problems could place third parties at risk, such as pilots or bus drivers.

National Ethics Council head Kristiane Weber-Hassemer said: "Restrictions must be put on the period of validity of gene diagnoses and predictions about the chances that a disease might occur" (see Deutsche Welle report). It was recommended that the diagnostic validity of obligatory genetic tests should be limited to a maximum of five years for civil servants (in addition to the current medical examinations and tests). For positions without lifelong tenure, it was recommended that only positive test results that could seriously affect job suitability within the following six months could be used to bar an individual from employment. Test results should be reported as ‘negative’ if the risk of developing the disease in question within this period is estimated to be less than 50%. The recommendations are limited to the use of genetic testing and health prediction in the workplace, and do not relate to other issues such as the use of genetic testing by insurance companies, which in Germany is currently subject to a voluntary moratorium until 2011.

Research articles

Research article   |   By Dr Philippa Brice   |   Published 8 September 2005

Banning genetic discrimination. Greely HT (2005) N. Engl. J. Med. 353, 865-867. Perspective on the history of US legislation to prevent genetic discrimination, and the potential advantages and disadvantages of the most recent Genetic Information Nondiscrimination Act.

Newborn Screening — Setting Evidence-Based Policy for Protection. Natowicz M (2005) N. Engl. J. Med. 353, 867-870. Perspective on the recent recommendations of the American College of Medical Genetics on a uniform newborn-screening panel and system for the US.

Research article   |   By Dr Philippa Brice   |   Published 6 September 2005

Synergy between sequence and size in large-scale genomics. Gregory TR (2005). Nature Reviews Genetics 6, 699-708. Review looking at how the combination of sequence and whole-genome size data can improve understanding of genome structure and evolution.

Ethics Watch. Shakespeare T (2005) Nature Reviews Genetics 6, 666. Commentary on widely-held public objections to sex selection by parents and the reasoning behind these objections.

Identical twins: epigenetics makes the difference. Flintof L (2005) Nature Reviews Genetics 6, 667. Commentary on recent research suggesting that identical twins accumulate epigenetic differences over time, and possible implications for how age and the environment might affect human health.

Unraveling the Fanconi anemia-DNA repair connection. Thompson LH (2005) Nature Genetics  37, 921-922.News and Views article.

The chimpanzee and us. Li W and Saunders MA (2005) Nature 437, 50-51.News and Views article accompanying the publication of the draft DNA sequence of the chimpanzee genome, and looking at the prospects for new insights into human biology and evolution.

The latest edition of Science is a special feature issue on Mapping RNA form and function, with a range of articles including:

The Functional Genomics of Noncoding RNA. Mattick JS (2005) Science 309, 1527-1528. Viewpoint piece on functional screening of non-coding RNAs to discover their action, and the probability that such RNAs may represent a 'hidden layer of gene regulation'.

Fewer Genes, More Noncoding RNA. Claverie, J (2005) Science 309, 1529-1530. Viewpoint piece on the challenge of exploring the different roles of noncoding RNAs.  

From Birth to Death: The Complex Lives of Eukaryotic mRNAs. Moore MJ (2005) Science 309, 1514-1518. Review of the expanding knowledge of eukaryotic gene expression and regulation.

Ribo-gnome: The Big World of Small RNAs. Zamore PD and Haley B (2005) Science 309, 1519-1524. Review on current understanding about small RNAs (microRNAs, small interfering RNAs and repeat-associated small interfering RNAs) and their function.