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From 'Genomic Medicine' to the new horizon of epigenetics

20 July 2009
Appeared in BioNews 517
From our perspective at the Progress Educational Trust (PET), one of the most welcome aspects of the House of Lords Science and Technology Committee's new report 'Genomic Medicine' is its consideration of public engagement issues. This section of the report appears to anticipate and complement PET's plans for its 2009 annual conference, entitled Does Genetics Matter? Help, which will take place in East London on Wednesday 18 November.

While the 'Genomic Medicine' report praises established public engagement efforts around genomics, it expresses 'concern...that these activities have focused primarily on public understanding of single-gene disorders'. The report goes on to 'urge the government and other relevant bodies to extend the scope of their public engagement activities to include more detailed consideration of the implications ofgenetic tests for common complex diseases' (1).

Recent improvements in our understanding of monogenic disease, particularly following the completion of the Human Genome Project in 2003, represent a substantial achievement. Such conditions may be rare when considered individually, but taken in the aggregate they affect a significant minority of the population. This proportion only increases when one considers family members, who may not suffer directly from monogenic diseases but fear developing them or transmitting them to their offspring.

Monogenic disease is a subject ripe for discussion, debate and education. Because monogenic conditions tend to be inherited according to the patterns established in pea plants by Gregor Mendel over 150 years ago, opportunities to explain the mechanisms of their transmission to lay audiences are abundant, and these opportunities have been exploited to the full by science communicators and educators. Common complex disorders, on the other hand, present a greater challenge to public engagement - not least because the best means of addressing and understanding such disorders remains a subject of some contention even among experts in the field.

The most popular approach to date has been the genome-wide association study (GWAS), which has only been possible since the completion of the Human Genome Project. The GWAS approach involves examining the entire genome without a specific hypothesis in mind, merely looking for replicable associations between genetic variation and a given disorder. Whether or not this approach has been successful to date rather depends upon one's perspective.

On the positive side, the GWAS approach has identified many genetic variants that are a demonstrable factor in the risk of inheriting a particular complex disorder. On the negative side, variants identified in this way tend only to account for a small proportion of the heritable component of such complex disorders. This raises the question of whether the hypothesis-free GWAS approach is the best use of available resources, and whether alternative approaches with a more hypothetical basis should be considered.

The question came to something of a head earlier this year, when the eminent geneticist Steve Jones suggested in the Daily Telegraph that the GWAS work of the Wellcome Trust Case Control Consortium was producing diminishing returns (2). Mark Walport, director of the Wellcome Trust, retorted in the same newspaper that Jones was unjustifiably disparaging 'an extraordinary flowering of knowledge as a result of genetic research' (3).

This public spat did not conform to the established public engagement 'script' of extolling the virtues and wonders of genetic science in the wake of the Human Genome Project. It was therefore easily misconstrued as a debate over the merits of genetic research per se, when in fact it was something far more exciting and promising - a debate about the merits of different approaches to genetic research.

Always happy to follow scientific debate wherever it may lead, including when it wanders off the public engagement script (which suggests to us that a better script needs to be written), PET will address the pros and cons of the GWAS approach at its annual conference, where Steve Jones will be one of several speakers offering contrasting perspectives on this question. The conference will also address - for perhaps the first time before a mixed lay and specialist audience - the exciting new field of epigenetics, which studies the biochemical mechanisms whereby gene expression may be selectively silenced in different tissues of the body and at different points during an individual's development.

Because epigenetics complicates our understanding of heritability, it offers one possible answer to the 'missing heritability' left over from the results of the GWAS approach. Could the nuances of heritability be located not in the individual's DNA sequence, but in the shifting sands of their epigenome(s)? Come to the conference on 18 November and find out.

In addition to Steve Jones (Head of Biology and Professor of Genetics at University College London), other confirmed speakers include: Dian Donnai (Professor of Medical Genetics at the University of Manchester), Irwin McLean (Professor of Human Genetics at University of Dundee), Jonathan Mill (Lecturer in Psychiatric Epigenetics at the Institute of Psychiatry), Karen Temple (Professor of Medical Genetics at the University of Southampton) and PET's chair Marcus Pembrey (Emeritus Professor of Paediatric Genetics at the Institute of Child Health).

Finally, it is gratifying that the House of Lords 'Genomic Medicine' report recommends 'that the Department of Health should establish a comprehensive and regularly updated public information website which would review the most recent science on the genetics of common diseases' (4). PET's BioNews website and newsletter, while highly regarded, are both long overdue an overhaul to take advantage of present-day design and technology, and to bring them into the twenty-first century. As it happens, the UK Department of Health - with substantial support from the Wellcome Trust - has been funding just such an overhaul of BioNews over the past year, with the new-look website and newsletter due to launch imminently.

While BioNews covers a broader range of subjects than the genetics of common diseases, we hope that our coverage of that particular field on the redesigned BioNews website will go a long way towards satisfying the Science and Technology Committee's desire to see a Department-of-Health-established website that does the subject justice. Watch this space.

If are interested in attending PET's annual conference Does Genetics Matter? Help. For more information, contact Sandy Starr at or on +44 (0)20 7278 7870.

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