Microsoft outlined how emerging technologies can support diagnosis of rare diseases among children in a report released Feb. 20.
Rare diseases affect almost 350 million people globally, and they can take an average of five years to diagnose, according to the report.
Microsoft set out to combat this issue in 2018, joining forces with Japanese drug developer Takeda and European health alliance Eurodis to launch the Global Commission to End the Diagnostic Odyssey for Children.
The commission spent the last year collecting input from patients, families and other expert advisors to inform a set of guidelines on how to achieve a correct diagnosis. The emerging technologies the commission identified will serve to empower patients and families to inquire about additional testing and equip frontline providers to better identify patients who may have a rare disease, according to the report.
Three technology programs the commission is launching to spot rare diseases faster:
1. Machine learning systems to identify rare diseases. The program will develop machine learning algorithms that can identify symptom patterns in medical records, patient-reported information and genomic data that a physician may not immediately associate with a rare disease. The ultimate goal is to integrate the algorithms into hospital EHRs, so that they can flag patient symptom patterns and prompt the physician to consider rare disease testing.
2. Virtual tools and telemedicine to expand genetic assessment and counseling. By integrating virtual consultations, facial recognition and a triaging system into a multipurpose platform, the commission hopes to expand access to genetic counseling. Under the program, genetic clinics will be able to deliver assessment and counseling remotely to patients and primary care physicians. A pilot program for the platform will run at Children’s National Hospital in Washington, D.C.
3. A blockchain-based patient registry to give patients more control over their health records. To support patient privacy and manage patient consent, the organizations will create a blockchain-based registry that allows data to be owned by the patient. Armed with this data, the commission said patients will be empowered to seek additional provider opinions when pursuing a diagnosis. A pilot program for the registry will be tested at Queen’s University in Ontario, Canada.
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