Personal GenoME & Medicine: Hype or Reality? Forum
Moderators:
This is a forum to address the issues relating to genome technologies and personalised medicine – the focus of the upcoming Talkscience on the evening of the 23rd September 2009.
The discussion will be introduced by Alan Ashworth, Fellow of the Royal Society and director of the Breakthrough Toby Robins Breast Cancer Research Centre.
You can click here to book tickets.
Below we set out a few thoughts to get the discussion going in advance of the event, but please feel free to raise your own issues.
Letting the Genome Out of the Bottle Since the sequencing of the human genome in 2003, cheaper and faster DNA sequencing has made personal genomics a reality, at least for some. Has this technological evolution outpaced our understanding of the role of genes in disease? Are we now faced with a ‘genetic data mountain’? How can we make best use of this information for understanding disease, its treatment and prevention?
Wide of the Mark Genome-wide association studies have identified many single-nucleotide polymorphisms (SNPs) that co-occur with disease – but which are truly causal? Has the significance of SNPs been overstated? Most common variants found carry only a low or modest risk for the disease, so what are the missing aetiological factors? How can we accurately predict disease predisposition when – even at a genetic level – it’s often multifactorial?
Clinical Utility: Promise to Practice Is the expectation that advances in genetic research will lead to a revolution in the diagnosis, treatment and prevention of common diseases unrealistic? Are genes that are proven indicators of susceptibility, such as use of BRCA (breast cancer susceptiblity) gene testing to inform certain cancer treatments, isolated examples of success or a tantalising taster of what the future may hold?The path from gene discovery to clinical application is a long and arduous one – what have we learnt that can smooth it?
Retail Genetics – a SNP at the Price? The rapid growth of Direct-to-Consumer genetic testing is a growth industry; it raises a host of scientific, legal, ethical and social issues. What is the medical value of these services to the individual? Should they be regulated and if so by whom? How can the information from such tests be communicated in an informed and responsible way? What actions do people take in response to their genetic information? Is this a route to empowerment or a market of fortune tellers for the 21st century.
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