Schematic overview of I-MPOS, the new clinical genetic approach proposed. Patients have their exome/genome sequenced and their encrypted data stored on a password-protected platform which remains at the disposal of the individual patient. A patient presents to clinic with a specific medical concern. The physician performs a clinical evaluation and identifies some important features (“phenotype-first” approach). He or she then performs a database search using keywords related to the clinically assessed phenotype, as presently done, thereby providing an initial ranking of possible genetic diseases. This initial ranking is then adjusted by I-MPOSE based on the weight scores automatically assigned to the mutations identified by ES/WGS in the patient’s genes/loci known to be linked to each genetic disease; thus providing a second ranking of the possible genetic diseases. I-MPOSE simultaneously operates on the patient’s encrypted data and on a regularly updated database containing all well characterized genetic diagnoses. It is run during every clinical visit so as to incorporate new findings from clinical evaluation, as well as, new genetic knowledge incorporated in the regularly updated database.
Trakadis BMC Medical Genomics 2012 5:31 doi:10.1186/1755-8794-5-31