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Proposed recommendations and a background document on genetic testing in asymptomatic minors have been released by the European Society of Human Genetics (ESHG) for comment (see website). The recommendations concern genetic testing of asymptomatic minors in a clinical context, where testing has been requested by either the parents or the minors themselves. The document begins by discussing general considerations regarding the treatment of minors and the process of genetic counselling prior to outlining recommendations relating to predictive genetic testing, intentional carrier testing and incidental discovery of carrier status. The recommendations do not cover genetic screening except for the possibility of incidental discovery of carrier status. It also does not cover genetic susceptibility tests due to “their limited clinical validity and utility” or neonatal screening.

The background document reviews the major issues and discussions with regard to predictive genetic testing for adult-onset disorders, for preventable or treatable childhood-onset disorders and carrier testing. The ESHG hopes that these documents will involve the genetics community in debate on genetic testing in asymptomatic minors and help address the issue in a thorough way. The documents and details of where to send the comments are available on the ESHG website; the deadline is August 15 2008.

A new birth cohort research facility is to be launched as a resource for the study of the effects of economic, social and biological factors on human behaviour. A collaborative venture between the Economic and Social Research Council (ESRC) and Medical Research Council (MRC), the £28.5 million facility is to be funded from the UK Department of Innovation, Universities and Skills (DIUS) science portfolio.

Birth cohorts are groups of people born within a defined period (such as a given year), often followed prospectively and monitored for outcomes of interest to researchers – for example, their medical history. The new facility will co-ordinate data from different existing birth cohort studies and make it easier for researchers to compare findings and identify patterns across different groups, to inform study of the effects of various factors on public health and social outcomes. A new cohort of children born in 2012 will also be created and tracked to look at the interplay of genetic and environmental factors (including prenatal influences) on development.

MRC Chief Executive Sir Leszek Borysiewicz commented: "Birth cohort studies are a vital tool for increasing our understanding of how our environment and development before and after we are born influence our health and predisposition to diseases in later life" (see press release).

The UK’s Human Tissue Authority (HTA) has announced the launch of a public consultation process to get stakeholders’ views on its revised codes of practice and a new code of practice on research (see press release). Codes of practice 1-7 have been re-written and a new code of practice on research has been included on the basis of their experience over the past two years and feedback from stakeholders. They are not consulting on code of practice 8, which pertains to the import and export of human bodies, body parts and tissue as it was only published in May 2007. The new code of practice on research is specifically for those who store human tissue for research and provides advice and guidance on issues including licensing and consent requirements for tissue from both the living and deceased.

The public consultation runs from 1st August to 14th November 2008. The HTA has asked for comments from researchers and other stakeholders on any part of the codes and have also detailed some specific questions they would like addressed. Details of the codes and consultation are available on the HTA website.

In a significant judgment on Thursday 31 July, Mr. Justice Kitchin of the UK High Court revoked a UK patent held by US pharmaceutical company Human Genome Science (HGS) over neutrokine alpha, a member of the ‘tumour necrosis factor’ (TNF) superfamily of proteins found to trigger inflammation in the body (reported by Financial Times). The patent was one of many such patents in relation to genes, proteins and human stem cells issued to biotech companies during the rush to map the human genome that began in the 1990s.

Proteins in the TNF superfamily are involved in a number of cellular activities including immune response, and given that a number of widespread diseases, such as arthritis, asthma and chronic pulmonary disease, are associated with inflammation, the discovery of neutrokine alpha holds valuable potential for pharmaceutical companies. Indeed, HGS had been collaborating with Glaxo-Wellcome to produce lymphostat, an antibody to neutrokine alpha, for the potential treatment of rheumatoid arthritis and lupus, and it was competitor Eli Lilly, also heavily invested in the development of such antibodies, who initiated the challenge against the HGS patent. Subsequent experimental evidence enabled Eli Lilly to demonstrate that the HGS patent had been granted in the absence of sufficient detail regarding the biological function of neutrokine alpha, the conditions it caused or its therapeutic applications, and that it had been based on knowledge of other members of the TNF group of proteins. Mr. Justice Kitchin invalidated the UK patent, ruling that HGS had failed to identify an industrial application for the protein at the time the patent filing was made. The case raises the threshold for intellectual property protection for biotechnological inventions.

New research has identified new genetic variants associated with the disease schizophrenia, the most common major psychiatric disorder (affecting around 1 in 100 of the UK population), which causes altered perceptions of reality typified by delusions and hallucinations. Two large-scale international collaborative research studies by the International Schizophrenia Consortium (ISC) and SGENE Consortium, both published in the journal Nature,  looked independently at copy number variations or CNVs (regions of deletions or duplications in the DNA sequence) in the genomes of several thousand patients with schizophrenia; CNVs have already been associated with the disease (see previous news).

Both projects identified specific genetic abnormalities associated with schizophrenia in sites on chromosomes 1, 15 and 22 (the latter having been previously associated with increased risk of the disease). The new mutations are rare, thought to be present in no more than 1% of the general population, but appear to confer a substantially increased risk (3 to 15-fold) of developing the disease, of around 3-fold for the site on chromosome 1, and 12- and 15-fold for the two sites on chromosome 15. The ISC paper found that structural chromosomal changes (especially single, rare ones) occurred at a generally higher frequency in individuals with schizophrenia than controls [The International Schizophrenia Consortium. Nature. 2008 Jul 30 doi:10.1038/nature07239].The SGEBE paper suggests that rare variants may account for a larger proportion of genetic susceptibility towards schizophrenia than is the case for other complex diseases; the reasoning is that, since the disease is associated with much lower rates of reproduction than normal, genetic variants tend to be lost from the population more rapidly than usual [Stefansson H et al. Nature 2008 Jul 30. doi:10.1038/nature07229].

Dr Pamela Sklar of the ISC said: "We've only explained a tiny fraction of why people might develop schizophrenia and much more work needs to be done to connect specific changes to the full spectrum of other types of genetic factors that might influence schizophrenia as well as the way in which those might interact with the environment" (see press release).

A third publication in the journal Nature Genetics used a genome-wide association study (GWA) to identify a number of more common genetic variations linked with a slightly increased risk of schizophrenia [O’Donovan MC et al. Nat. Genetics 2008 Jul 30 doi:10.1038/ng.201]. One locus was also found to show association with an increased risk of bipolar disorder, leading the authors to propose that it might influence risk to a broader psychosis phenotype.

Comment:  Researchers have prudently warned that the new findings, whilst of value, are not likely to be applicable as susceptibility tests for schizophrenia, since there are probably many different genetic ‘routes’ to the disease (see BBC news). However, besides informing work on the biological mechanisms that underlie the development of schizophrenia, findings could potentially also contribute towards improved means of diagnosing the condition and distinguishing it from other psychiatric conditions such as bipolar disorder (see ScienceDaily news).

Evidence of support for biobanking practices.
Laurie G. BMJ. 2008 Jul 10;337:a337.

The Genetic Information Nondiscrimination Act - a half-step toward risk sharing.
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Genetics. Insights into the pathogenesis of autism.
Sutcliffe JS. Science. 2008 Jul 11;321(5886):208-9.

Shedding light on skin cancer.

Pharoah PD. Nat Genet. 2008 Jul;40(7):817-8.

Bringing age-related macular degeneration into focus
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30 years: from IVF to stem cells.
Deech R. Nature. 2008 Jul 17;454(7202):280-1.

Life after SuperBabe.

Nature. 2008 Jul 17;454(7202):253.

Motor neuron disease: The curious ways of ALS.
Polymenidou M, Cleveland DW. Nature. 2008 Jul 17;454(7202):284-5

Genetic engineering in athletes.

Wells D. BMJ. 2008 Jul 7;337:a607.

Five metaphors about global-health policy
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Enhancing the quality and transparency of health research
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Genetics of stroke: a review of recent advances
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The environmental contribution to gene expression profiles
Gibson G. Nat Rev Genet. 2008 Aug;9(8):575-81.

DNA polymerases and human disease.
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Single-strand break repair and genetic disease.
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Psychiatric genetics: The brains of the family.
Abbott A. Nature. 2008 Jul 10;454(7201):154-7.

An unnecessary battle.

Nature. 2008 Jul 10;454(7201):137-8.

Cancer: An unexpected addiction.
Shaughnessy JD. Nature. 2008 Jul 10;454(7201):172-3.

Genomics: Thoroughly modern meiosis.
Lichten M. Nature. 2008 Jul 24;454(7203):421-2.

Life, logic and information.
Nurse P. Nature. 2008 Jul 24;454(7203):424-6.

Recognition of genetic factors influencing the progression of hepatitis C: potential for personalized therapy
Jonsson JR, Purdie DM, Clouston AD, Powell EE. Mol Diagn Ther. 2008;12(4):209-18.

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