The great science fiction author, H G Wells said “I have seen the future and it works”on his return from Russia in 1917. This reminds us that, as the Nobel Laureate Neils Bohr said, “Prediction is very difficult, especially about the future”. The last two decades are awash with predictions of how the analysis of DNA will change our lives and how our medical care will be personalized. Despite the danger, this is a time for prediction; the presentation will begin with a tangible example of how the discovery of a rare disease led to a better understanding of the role of iron in the brain and prospects for targeted care. This might rely on “treating” the individual genotype or on use of imaging modalities to identify early disease and treat more effectively with new expensive interventions such as stem cell therapies.
The revolutionary pace of development of genomic technology is making the solution to rare diseases commonplace and the scene is set for expansion into common disease. The recent announcement of £100 million to sequence 100,000 NHS patients will bring into sharp focus the challenge of the 3 million mostly irrelevant variants predicted for each of us. An international effort born in Melbourne to transform this noise into a clinical signal, the Human Variome Project, is now recognized by UNESCO. Technical developments in cheap reliable genotyping at the point of need will allow this knowledge to be applied in real time anywhere. Our start-up company, QuantuMDx ltd, is developing the QPoc which will allow cheap DNA testing in minutes to better direct interventions. Such intervention will help identify people who should use simple preventive strategies and how to avoid adverse events; we have shown that regular long term aspirin can more than half the cancer rates in those at increased genetic risk of cancer, statins can prevent heart attacks in those who have a genetic and/or environmental predisposition to high cholesterol while warfarin is prescribed for millions. In all cases, personalized DNA testing can reduce the risk of adverse events and allow these simple interventions to be used more effectively to reduce the burden of disease.
|Timothy D. Smith|
|Human Variome Project|
|Level 5, 234 Queensberry Street|
|The University of Melbourne, Victoria, 3010|
|Tel: +61 (0)3 8344 2096|
|Fax: +61 (0)3 9347 6842|
|Mob: +61 (0)419 357 589|
Join the global effort to share genomic knowledge and reduce disease by becoming a member of the Human Variome Project Consortium. Membership is free and open to everyone with an interest in helping patients with genetic disease. Join now at http://www.humanvariomeproject.org.