Despite the excitement generated by success of the Human Genome Project, there is growing recognition in the scientific community that sequencing the human genome alone will not provide all the answers to solving human disease - at least not in the foreseeable future.
In fact, if genomics is to result in the development of more effective and less expensive treatments for diseases ranging from cancer to AIDS, and Alzheimer's disease to arthritis, greater attention will have to be paid to "bioinformatics" - the information management systems used to analyse and decipher scientific data.
That's the view adopted by SAS Institute, the world's largest privately held software company, with SAS software being used at more than 38 000 business, government and university sites around the world, including SA.
SAS maintains that the traditional linear approach to drug discovery and development can no longer sustain the current demands of the drug development process, much less the future needs of personalised medicine promised by advances in genomics.
This has been recognised by pharmaceutical companies which are making substantial investments in bioinformatics.
According to Bruce Jones, sales support manager at SAS South Africa, bioinformatics includes technologies such as data warehousing and data mining which are already widely used in the commercial arena.
"Bioinformatics has not been a focus in SA because very little primary pharmaceutical research is carried out in this country. However, spending on bioinformatics globally topped the half-billion-dollar mark last year and - according to several leading research organisations (Frost & Sullivan, July2001; D&MD, March 2001; Scientific American, July 2000; IDC, 2002), will grow to between $2 billion to $10 billion by 2005. The Swiss bank UBS Warburg predicts the proportion of drug discovery dollars earmarked for bioinformatics will grow from 7% in 2000 to 17% in 2005," he says.
SAS is a leader in this growing field. Based in North Carolina, USA, the SAS Institute is the dominant solutions provider to the pharmaceutical and biotechnology industries where a single data error can cost hundreds, even millions, of lives. Companies use SAS to prove the safety and efficacy of drugs under development and to deliver electronic submissions to the US Food and Drug Administration.
Now, SAS technology is being utilised to help scientists sift through genetic data, to map the human genome and identify disease-causing defects.
For example, the Human Genome Project has been working for over a decade to decipher the complete sequence of the human genetic code. Three billion bases pair up to form a single piece of the genetic message, so the process is time-consuming. With SAS Enterprise Miner, researchers are isolating tiny differences in the genetic sequence, which is composed of billions of single nucleotide polymorphisms (SNPs). Identifying such irregularities in genetic patterns is the first step toward finding cures.
A team of geneticists and statisticians at North Carolina State University in Raleigh used SAS Enterprise Miner to analyse SNP data from patients with Alzheimer's disease. Their work uncovered genetic patterns associated with the disease-discoveries that could point researchers toward treatments to prevent or mitigate the devastating effects of the disease.
SAS maintains that as we move into the 21st century, the excitement generated by the advances of the Human Genome Project is being replaced with a new recognition that the promise of personalised medicine can only be realised with a big-picture perspective and comprehensive understanding of disease processes.
However, the problem drug development companies have is that the old standard of pursuing drug discovery/development process can't support this requirement.
Today's scientists are grappling with gigabytes of disparate data from incompatible databases, spread across multiple departments, systems and formats. Each day's research generates vast amounts of data: a typical facility might generate data from screening over 100 000 compounds per week for responses to specific assays.
Different tools are used within discovery organisations for each aspect of discovery - genomics, proteomics, compound screening and toxicology.
Yet, as SAS points out, it's often hard enough to get those databases to talk to each other, much less reveal new scientific discovery.
So scientists are frustrated and the discovery process is stifled because of the difficulty in distilling new knowledge from masses of raw research data.
What's needed is effective data management solutions that are compatible with legacy systems, and enable pharmaceutical companies to centralise their drug discovery information and find those relatively small nuggets of knowledge buried in the great morass of data being generated by high-throughput screening systems.
SAS's Scientific Discovery Solutions coupled with Enterprise Miner provide the intelligence needed to establish repeatable, sustainable discovery processes that deliver successful and valuable drug candidates.
By delivering the analytic power pharmaceutical researchers need to effectively manage vast amounts of discovery research data, SAS is assisting scientists to reap tangible benefits from the advances promised by the mapping of the human genome.
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