Hereditary disease diagnosis for conditions such as Huntington's disease or cystic fibrosis has long been a complicated process to carry out due to a wide variety of symptoms that are mostly similar to that of other diseases. Recently, a German research team from the Max Planck Institute for Informatics, headed by Marcel Schulz, came up with the creation of a smart phone application called "Phenomizer" that simplifies the diagnosis of these hereditary diseases.
Schulz explains that to use the application, doctors will have to input all the symptoms being manifested by the patient. The system will then conduct a scan over the Human Phenotype Ontology online database, which is a large collection of facts and statistics, cross referencing over 10,000 disease characteristics that are linked to about 7,500 diseases that are all potentially indicated by the symptoms. Just seconds after entering the required data, the system will present the doctor with a list of illnesses that are the ones most likely associated to the symptoms being exhibited by the patient.
The team behind the creation of the Phenomizer is presenting doctors with the opportunity to significantly reduce the time that is spent on researching using other databases or books, and rather spending that time for increased patient interaction. Symptoms of hereditary diseases are often so common that medical specialists face the difficulties producing the correct diagnosis from the onset. This breakthrough diagnostic system not only eliminates the need for hours of research, but also to detect the most probable medical condition through a detailed analysis of symptoms.
The Phenomizer is a free application that is now available on Google play for downloading into smart phones or tablets. The team behind the app is pleased that, now, doctors all over the world can now take advantage its online database for disease diagnosis.