Rapid genome sequencing to shed light on disease

23 June 2010

The Royal Brompton Hospital in London has announced that it will be using a new Next Generation Genetic Sequencer machine, funded by the National Institute for Health Research (NIHR), to investigate the genetics of heart disease. Recent advances in both genetics and cardiology have made it possible to offer greatly improved care for patients with inherited forms of cardiac disease, an area now designated as a priority for UK Department of Health commissioners of specialised services following the 2009 PHG Foundation Report Heart to Heart: Inherited Cardiovascular Conditions Services.

Next-generation sequencing technologies allow increasingly rapid and affordable DNA sequencing. The Royal Brompton researchers plan to use genomic sequencing on a total of 10,000 adult patients over ten years to investigate the links between specific genetic variants and forms of cardiomyopathy, with a view to improving understanding of and personalised treatment for this group of cardiac conditions. Cardiomyopathies may be inherited; where these conditions do not appear to have been directly inherited, other genetic factors may nevertheless influence the risk of developing them.
 
The new project will focus on the ‘exome’ – the gene-coding regions of the genome – in combination with clinical investigations such as MRI scanning of hearts. Patients will receive genetic counselling before testing, since the analysis could also reveal genetic factors associated with other forms of disease (see BBC news).
 
Developments in technology for genomic sequencing are progressing rapidly; the Applied Biosystems sequencing machine to be used in this project is reportedly 200,000 times faster and 10,000 cheaper than those used for the sequencing of the first human genome ten years ago (see press release), and costs are expected to fall further in coming years whilst speeds continue to rise. The PHG Foundation is currently undertaking a major new programme of work to examine the implications of whole genome sequencing using next-generation technologies for health, since the potential impact on a wide range of medical fields is profound.
 
The journal Nature has celebrated the tenth anniversary of completion of the first draft human genome sequence with a poll of scientists about genome sequencing. Although the majority considered the Human Genome Project to have helped basic biological science, only around 20% thought that clinical medicine had benefited so far, due to the complexity of data and the enormous difficulties in interpretation. Over half expect that it will take more than 10-20 years before personalised medicine using genetic information will become common practice – and opinions about genetic sequencing and analysis of their own genomes varied: some had already tried it, many would if the cost were sufficiently low – and 17% reportedly said they would not do it even if paid to do so.

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