Sometimes your TV is actually right and diagnosing an illness is really a puzzle. This is the case with rare diseases for example, which only affect a small portion of the population. Physicians are then confronted with the problem of not having enough experience with a specific illness and its symptoms to be able to make a diagnosis. At least in the real world, physicians cannot count on luck or coincidence to come to their rescue. A new diagnostic procedure that reconciles data from genetic analysis with disease symptoms and suggests possible diagnoses could assist them in the future. MEDICA.de spoke with Dr. Peter N. Robinson about a procedure called “PhenIX“ and its application.Dr. Robinson, what does the name “PhenIX“ stand for and what is behind it?Peter N. Robinson: “PhenIX“ stands for “Phenotypic Interpretation of eXomes“. We are trying to simplify diagnosis for so-called rare diseases. ...
Read more in our Interview: http://www.medica.de/Interview_Peter_N_Robinson_PhenIX_1