In these three weeks we have noticed the enormous difficulty posed by phenotyping (annotate the symptoms). Our idea to come to INGEMM was to facilitate that process to the patients but we have found that the process is just as complicated for clinicians.
There are several factors that influence the phenotyping to be complicated. The first is that the HPO-based ontology used is complex and has thousands of terms. Doctors have to get the right term and the help tools simply offer a linguistic approximation help.
The second is the precision of the phenotype. If the description is very generic or on the contrary it is very deep the searching algorithms of associated diseases can not find precise similarities.
And the last one is that there are conditions like autism in which the symptoms are purely behavioral. Are perfect Proms (Patient Reported Outcomes) that the doctor has to obtain by asking the patient’s parents or caregivers. We have had to develop a new strategy to get these symptoms.
Now we are finishing to outline this algorithm and test it with control patients. We hope to have results soon.