Survey on Machine Learning in the diagnostic process of rare diseases

Screen4Care, an Innovative Medicines Initiative (IMI 2 JU) project, offers an innovative research approach to accelerate rare disease diagnosis, which is based on two central pillars: genetic newborn screening and digital technologies. People living with rare diseases typically face a long diagnostic process, with an average of eight years of inconclusive consultations and possible misdiagnoses, leading to ineffective treatments and inefficient use of healthcare resources.

The aim of Screen4Care is to dramatically shorten the time it takes rare disease patients to get a diagnosis and treatment. Screen4Care is conducting a survey about your understanding, experience and attitudes regarding the application of machine learning (ML) in the diagnostic process of rare diseases. 

As a member of a European Reference Network (ERN) for rare diseases, your opinion and contribution on this specific subject are particularly meaningful and might help define the future implementation of ML in the rare disease field.

Click here to fill out the survey.