Molecular and healthcare information, a necessary marriage

The first keynote speaker at the XI Bioinformatics Symposium was Søren Brunak, director of the Centre for Biological Sequence Analysis (CBS) in Denmark. He gave an interesting overview on the need to integrate the very detailed molecular information we have with the phenotypic data we can get from the healthcare sector. He explained the best source of this type of data are the electronic patient records (EPR or EMR – for medical records), which are very well established in his country as well as other small European countries such as the Netherlands, but not at all in bigger countries such as France or Germany. Spain was halfway between both, but closer to the less advanced countries in terms of having standardized EMRs.

There are difficulties with these EMRs, not the least the barrier language amongst different countries. But there exists a unified medical language system (UMLS), a controlled vocabulary for the clinical disease descriptions which facilitates the comparison.

Brunak mentioned an interesting article by Elaine Mardis, “The $1,000 genome, the $100,000 analysis?”, which points out that even though we are quickly getting more sequence information at a lower price, the costs of analyzing it are still very high, and the task is difficult. Brunak believes the cost of these analyses will only go down if genotypic data is integrated with phenotypic information. So his take-home message was that we need to collect and analyse phenotypic data in a more fine-grained way, which will then make it easier to approach network biology from both the genotype and the phenotype data.

Report by Maruxa Martinez, Scientific Editor at the PRBB

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