Certain hereditary diseases – such as cystic fibrosis and Huntington’s disease – present an array of symptoms similar to that of other illnesses, making the conditions tricky to diagnose. Now, researchers have created a computer program that they say can simplify diagnosis of such diseases.
The research team, led by Marcel Schulz of the Max Planck Institute for Informatics in Germany, first reported their creation in the American Journal of Human Genetics in 2009.
Now, the program – called “Phenomizer” – is available as a free Android app on Google Play for smartphones and tablets, making it available to doctors all over the world.
To use the program, the doctor inputs a patient’s symptoms. The system then scans a large online database called the Human Phenotype Ontology, which stores over 10,000 disease characteristics and links them to 7,500 diseases.
Within seconds of entering the data, the doctor is presented with a list of the most likely illnesses the patient has.
The Phenomizer, the team says, helps to overcome the difficulties doctors face in diagnosing some hereditary diseases.
“Diseases like diabetes, epilepsy, a heart defect or deafness can themselves be symptoms of a range of hereditary diseases,” says Schulz. “That makes it so difficult for medical specialists to diagnose someone with the correct disease from the beginning.”
He adds that each disease can also have different characteristics in each patient. For example, they explain that in the case of a heart defect, a patient may also have Miller-Dieker syndrome (a pattern of abnormal brain development) or Cat eye syndrome (a rare eye disease), dependent on their other symptoms.
Schulz says this new diagnostic system provides numerous benefits for clinicians:
“The doctors no longer have to research in databases or books for several hours. The list supports them in detecting the disease more quickly. Moreover, doctors can ask patients about their symptoms in greater detail. This makes it easier to assess which aspects they need to pay attention to.”
The Phenomizer app was created in collaboration with six computer scientists from Saarland University in Saarbrücken, Germany.
It seems smartphone apps are the way of the future when it comes to assisting disease diagnosis. Last year, Medical News Today reported on a study detailing the creation of a smartphone app that detects skin cancer, while more recent research – presented at the American Academy of Neurology’s 66th Annual Meeting in Philadelphia, PA, in April this year – revealed two smartphone apps that can detect epilepsy and improve stroke care.
We also reported on a study last month that detailed a smartphone app called SmartGait, which can measure a person’s walking speed and gait (the pattern of walking) in an attempt to prevent falls among older adults.