The human genome: 21st Century medicine
Thursday 2nd February 2012 @ 00:00
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Professor Timothy Aitman, Consultant Physician, Imperial Academic Health Sciences Centre, Chair in Clinical and Molecular Genetics, and Head of Molecular Sciences, Institute of Clinical Sciences.&a
Paul Garwood reports on how gene discovery is being exploited in cell biology leading to a whole new way of tackling disease and disorders.
An audience of over 200 heard Professor Aitman talk eloquently about what has been happening in laboratories around the world since the since the completion (with great hoopla) of the Human Genome Project a decade ago. It became apparent that unraveling the genome was not going to provide as many answers to disease and disorders as first thought. But has anything been happening at all?
Professor Tim Aitman demonstrated that much has indeed happened. The foundation has been created for truly revolutionary change over the decades ahead in virtually all aspects of medicine.
Genes linked to disease have been identified at an accelerating rate. At first, this was mostly about single gene disorders (eg cystic fibrosis) where defects in a single gene cause the condition. The focus has shifted to the identification of the sets of genes which, in combination with one another, and with the environment, can produce conditions which affect huge numbers of people (eg heart conditions, cancers, and diabetes).
This has been enabled by massive change in the ease, speed and cheapness with which genomes can be “read”. The Human Genome Project took many years of effort by large teams and much money. Today, desk-top machines, costing only £60,000, can read a human genome in a day or two. This has already led to the development of some drugs that have far greater effectiveness than ever before, albeit amongst segments of the population.
This technical change will continue. However, the impact on mankind will now largely be determined by other factors – specifically:
• Ethical and societal factors. Much work will need to go into the regulatory and legislative framework that will be required.
• Skills development on a wide scale. So far, the work has largely been done by clinical geneticists of whom there are very few. To enable the impact that is now going to be possible, a huge training and education effort will be needed across many levels of the medical profession and, indeed, in society as a whole.
• The days of the “blockbuster” drug may be gone. Will a new business model evolve allowing a return on investment to be made for drugs which are targeted to just small slices of the population? Without the prospect of a return on investment, there may be no investment!
Prof Aitman’s experience and credentials shone through his hour long lecture and the subsequent questions. He holds the Chair of Clinical and Molecular Genetics at Imperial, and has served on numerous advisory boards. He was the specialist adviser to the UK Government Inquiry on Genomic Medicine in 2008/9 and is a member of the Human Genetics Commission. Prof Aitman’s own work has identified disease genes for defective insulin action and diabetes; for the autoimmune disease systemic lupus; and for cardiac enlargement.
He graduated in Medicine and Physiology from the University of Birmingham. He started in molecular genetics in 1989, gaining his DPhil at Oxford in 1992 for his work on juvenile-onset diabetes. Just after the turn of the century he was elected to both the Royal College of Physicians and the Academy of Medical Sciences. Professor Aitman has served on numerous advisory boards and was the specialist adviser to the UK Inquiry on Genomic Medicine in 2008/9. He is a member of the Human Genetics Commission and Trustee of the Public Health Genomics Foundation.
You can hear a podcast of his talk here.
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