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Potential of genetics to transform medicine risks being wasted, say experts

17 September 2012
Appeared in BioNews 673

The genetics community needs to work far more collaboratively if it is to meet the challenges of the genomic era, warns Professor Sir John Burn, one of the UK's leading genetics experts.

Professor Burn, who is chair of the British Society for Human Genetics and professor of clinical genetics at Newcastle University's Institute of Genetic Medicine, says: 'Now is the time for the community of geneticists to get its act together. That's true at several levels: first of all within the community; secondly, on a national level; and thirdly, internationally'.

It took 13 years and around $3billion to sequence a human genome for the first time, less than a decade ago. Since then, both the cost of and the time for genome sequencing have plummeted. At the same time, publication of scientific data in the field of genetics has boomed.

'The problem of sequencing technology is rapidly vanishing', says Professor Burn. 'We need to organise ourselves for the next challenges. The first of these is the sheer volume of genomic and genetic data, which is a soluble problem. The second, which is perhaps more difficult, is the translation of that data into meaningful clinical messages'.

To illustrate the difficulty, Professor Burn says: 'There are thousands of potential changes in each of the thousands of genes which in turn are controlled by thousands of other factors, all of which are liable to interact with one another in order to cause disease. So the idea that we can solve this problem purely computationally is delusional'.

The key, says Professor Burn, will be to start with the clinical picture - with information from patients - and establish a knowledge base that the international genetics community can build upon.

Currently, this is not performed. 'It is such a waste', Professor Burn continues, 'that my group can identify mutations but not tell anyone, or at best notify a national database. Nobody's telling the researchers in Italy, for example, who have found the same mutation using the same time-consuming techniques'.

The Human Variome Project, a global initiative to collect and curate information on all genetic variations affecting human health, exemplifies the international collaboration required. However, many more geneticists need to get involved in such initiatives if the health benefits promised by the genomic era are to be realised, Professor Burn says.

Closer collaboration at the national level is also required. The UK is a country which has historically been more open than others when it comes to genetic solutions to problems. As such, Professor Burn says, a 'very strong community of professionals' has flourished which is fully able to meet the challenges of the forthcoming years. Accordingly, he says, 'the idea of creating a new breed of "genomicists" is unnecessary and undesirable'.

'The professional community of geneticists needs to be attentive to our role in a 21st century healthcare system. Geneticists don't have a veto on genomic medicine becoming reality, we just have the opportunity to do it well and do it first'.

Professor Patrick Maxwell, dean of medical sciences at University College London, is an internationally renowned kidney specialist with a particular interest in genetics. He adds his thoughts on how the NHS needs to adapt:

'Remarkably little genetic analysis is performed at the moment across the NHS. This was justified in the past because genetic analysis required specialised laboratory expertise, was potentially very expensive, and might not benefit the patient'.

'Genetic information is becoming so easy and cheap to generate now that this is going to change dramatically. Currently, for genetic testing to be performed in the NHS, the patient will usually see a clinical geneticist and a genetics counsellor. It is often difficult, or even impossible, for other doctors to request genetic tests. This causes two problems. First, because there are rather few clinical geneticists, not much genetic testing is done. Second, other doctors are rarely trained to know when a genetic test would be appropriate, or how to interpret it'.

'How can the NHS meet the new challenges? Increasing the number of clinical geneticists could help, but I don't believe even increasing the number tenfold would solve the problem. So I think we need many more joint clinics between clinical geneticists and other specialists. Secondly, the NHS needs to think differently about how it funds and regulates genetic testing. Finally, staff in other specialties need rapid training in the use of genetic information'.

Professor Burn and Professor Maxwell made their comments prior to speeches at 'Genomic Medicine: Challenges for the 21st Century', the opening symposium of the British Society for Human Genetics Annual Conference, held at the University of Warwick on Monday 17 September 2012.

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British Human Genetics Conference |  17 September 2012
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