Genomic medicine is now integrating molecular medicine, which aims to explain life and disease in terms of the presence and regulation of molecular entities, and personalised medicine, which applies genotypic knowledge to identify predisposition to disease and develops therapies adapted to the genotype of individual patients.
The IST-funded SYMBIOmatics project seeks to stimulate such developments and help identify synergies between bioinformatics and medical/health informatics. Completing in September 2006, SYMBIOmatics has already documented the current status of research in biomedical informatics in Europe and identified several important areas of opportunity.
By systematically surveying European expert opinion and analysing the results of Internet surveys, the project team have produced a draft SYMBIOmatics White Paper, which was presented at the âICT for Bio-Medical Sciencesâ conference in Brussels on 29-30 June 2006. The paper describes thirty-one areas identified as potential opportunities or challenges, based on the results of the project, and input from an earlier study carried out by another IST project, BIOINFOMED.
Using both facilitated workshops and further online consultation, the project team narrowed the total down to 14 areas considered the highest priority for further research. These are:
- ID area name priority.
- Medical genetics databases and initiatives.
- Gene expression information in medical diagnostics and prognostics.
- Modelling and simulation of biological structures, processes and diseases.
- Integration of data from biosensors and medical devices with clinical information systems.
- Integration of patient molecular data into electronic health records.
- Systems for clinical decision making.
- Semantic interoperability and ontologies in biomedicine.
- Technologies for biomedical information integration.
- Data interoperability and standards.
- Connecting biobanks to large-scale databases to enable data mining.
- Patient-risk profiling and lifestyle management.
- Applied pharmaceutical research.
- Clinical and ethical issues related to biomedical data processing.
Why are these areas of such high priority? Graham Cameron of the European Bioinformatics Institute (EBI-EMBL) near Cambridge, UK, explains. "In pharmaco-genomics for example, it is well-known that certain drugs will work well on some people, but not on others. We believe that genetic makeup is an important explanation, but genetic testing is needed to confirm that view."
He continues, "Research in these areas could well bring down the cost of genetic testing enough to put it within the reach of the GP practice. So that GPs would be able to test patients for suitability as to certain treatments before commencing treatment with a particular drug. You could work out, with the help of your GP, if your own cholesterol level or diet is dangerous for you personally, according to your genetic makeup. Imagine the difference this could make for personal lifestyle choices!"
Cameron concludes, "SYMBIOmatics is an information gathering and dissemination exercise, but we hope that the research community will digest the results, and that they will influence the future direction of research within the EU."
European Bioinformatics Institute (EBI-EMBL)
Wellcome Trust Genome Campus
Hinxton (near Cambridge)
Source: IST Results Portal