27th September 2012
It is almost sixty years since James Watson and Francis Crick published their seminal paper on the structure of DNA. Just a few years earlier, scientists at Bell Laboratories in the United States demonstrated the first transistor. Despite these Nobel Prize-winning discoveries occurring around the same time, subsequent progress has been far more rapid in the field of electronics than in genetics. While computers have changed the world, our knowledge of the molecular basis of disease is still, in relative terms, in its infancy.
That may be changing. Technical innovations in biosciences and a growing understanding of our bodies and what makes us ill are fuelling progress in the way we treat disease, offering a glimpse of how healthcare might look in the future.
A major turning point was the Human Genome Project (HGP), an international collaboration that ran from 1990 to 2003. A genome is a combination of the genetic material, or DNA, contained in an organism. It provides the ‘blueprint' for life and can yield important information about an individual's proclivity for specific diseases or lifestyle conditions such as type 2diabetes. The HGP published the first draft of the human genome sequence in 2001, followed by the essentially complete (99 per cent) sequence in 2003.
Since then, knowledge of genomics has multiplied at breakneck speed. This has been accompanied by dramatic reductions in sequencing costs from $100m per genome in 2001 to less than $5,000 per genome today. As this figure continues to fall, and more people have their genetic code investigated and recorded, our understanding of disease will improve. This should result in better therapies, more personalised treatment and, ultimately, more efficient healthcare systems.
There are three key issues facing healthcare in developed nations: costs associated with an ageing population; the rise of lifestyle conditions such as obesity-linked diabetes and heart disease; and the fact that many conditions are still not curable and are often poorly controlled. As a result, healthcare is becoming an increasingly large and unbearable part of government and individual budgets, and in many cases any extra spending is generating relatively poor outcomes.
In seeking to address this, it is essential to think differently and optimistically about what the future holds. Treating disease is no longer only about drugs; it involves implementing new technologies to improve patient outcomes and enhance their lifestyles, while reducing healthcare costs.
The sharp price decrease per genome sequence is, for the first time, allowing scientists to undertake large-scale sequencing. Genomics is a statistical science that requires the comparison of large numbers of samples to identify rare mutations associated with particular diseases. As more information is analysed, each incremental piece of data is more valuable than the last.
Until recently, the cost of DNA sequencing made such studies prohibitively expensive. Only 1,000 human sequences were completed in 2010. However, scientists completed more than 10,000 genomes in 2011, and the Beijing Genomics Institute in China now has the capacity to sequence 15,000 human genomes annually.
The cost per genome could realistically fall to $1,000 within the next year and $100 inside ten years. On current rates of progress, it is plausible that, within a decade, millions of genomes will be sequenced every year, creating the potential for DNA sequencing to be used in routine medicine
This understanding of genetics and genomics on a fundamental level also makes possible the notion of personalised medicine – tailoring treatments to individuals. One area already benefiting from genetic data is pharmacogenomics. This involves using a patient's unique genetic fingerprint to help predict how they will respond to a drug. Many clinical trials have shown that most drugs do not work effectively in most patients. Schizophrenia medication, for example, shows a statistically significant therapeutic benefit in only 50% of patients. For cancer drugs, the figure is even lower, at around 25%.The implications of these findings on healthcare budgets are huge.
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