Enabling Personlized Healthcare through the Independent Health Record

The personalized healthcare vision is still far from realization mainly because of lack of studies that correlate common genetic variations to phonotypical data. Such studies point to genetic profiles of common groups in the population. However, in the long run, true personalization of healthcare should also address rare genomic variations, i.e., personal variations either inherited or acquired (e.g., in cancer tumors). These variations should then be correlated with phonotypical data known about the individual or published as evidences in the scientific literature. The creation of such genotype-phenotype associations should be an ongoing effort based on the richest and most comprehensive phonotypical data (clinical & environmental information) available. Typically such data sets are found in medical records (e.g., EMR, EPR, PHR, etc.) but these are usually partial and non-standard therefore hard to utilize. The best substrate for that purpose is an independent, all-embracing, longitudinal, cross-institutional and interoperable health record (iHR). The iHR information entity does not yet exist but could emerge if special trusts will be established after new legislation approved. The proposed legislation will designate new enterprises (independent health records trusts - IHRT) to be the sole record keepers of the medico-legal records of an individual (for more details on IHRT, please refer to the Methods paper below).

The talk will illustrate possible approaches to enabling personalized healthcare, currently being experimented within the EC-FP7 Hypergenes project aiming at a comprehensive disease model of hypertension (http://www.hypergenes.eu/).