Human Knowledge in the Age of Information, page 3

The opportunity to use these 40-year old cancer libraries opened up very quickly as a result of the massive, international effort in genomics that led (from 2001) to the development of universally available libraries containing every segment of human DNA. St Jude scientists dug out all the samples of acute lymphoblastic leukemia (ALL) from the deep freezes, and then used these new DNA libraries to probe which genes were being read out and which were either changed or abnormally expressed.

The molecular findings and patient records were next analysed to give a new understanding of why some forms of ALL are readily treated while others are not. Insights from this genetic analysis have established better criteria for determining drug dose, while showing why some forms of the cancer have been completely refractory to a particular therapy. What we are talking about here is the beginning of individualized, rational evidence-based cancer treatment.

All the genes of interest in ALL can be arrayed on a small chip, which can be quickly  'interrogated' using genetic material taken from a few leukemic cells. When a new patient comes in, this molecular profile is determined very rapidly and the information is used to assign an appropriate course of therapy. Apart from the improvement in cost and clinical outcome, insights are also being generated into other genetic mechanisms that might be targeted by new 'designer' drugs.

What happened here is thus that three different types of libraries, or archives, were brought together using the new science of informatics, which is based in statistics and advances in computing. Particularly important were gene identification techniques that depend on the polymerase chain reaction (PCR), the same technology that has been used to convict the perpetrators of many unsolved rape cases. Similar tumour libraries are now being established in many cities that have strong medical research communities.

A major library that is already in place here is the database of paediatric genetic diseases at the Murdoch Children’s Research Institute. Australia has a National Brain Library of samples from the full range of degenerative and acute neurological conditions. The Victorian Government is looking at a request to support a Melbourne tissue bank that will cover a range of adult cancers.

The intricacies of how to use information drawn from such a wide community base are currently being worked out using a locally resourced molecular medicine informatics model initiated with State funds via the Bio21 network. A challenge that is in the process of being resolved is how to protect patient privacy while at the same time allowing access to the necessary clinical records and tumour samples. Here we also draw on the insights of health care workers and lawyers.

If they were lost for some reason, the types of libraries that were used in the pediatric ALL study could be recreated in, say, an interval of 10 years or so. This would go much more quickly for high incidence adult cancers, like those of the breast and colon. The progressive definition of genomic libraries for everything from rice, to the malaria parasite, the fruit fly, the Tamar Wallaby and humans is something that can always be done again, though at considerable financial cost. The power of these libraries, both for future scientific advances and for understanding how life forms evolved is incomparable.

Other great libraries are enduring and always there. The geological and astronomical archives of the earth and the cosmos are available for us to search at the limits of our imagination, insight and technologies. The fossil record, the bones of our ancestors, the cave paintings, the statues, the hieroglyphs and the ancient buildings that give visual testimony to the history of human creativity continue to be discovered and unearthed. It is essential that we protect these natural and man-made archives, whether in museums or in field sites.