The three companies announced a slew of pilots employing machine learning, collaborative digital tools and blockchain technology.

Father and daughter playing on a digital tablet in hospital room.

A year after Microsoft, Takeda and Eurordis announced that they were teaming up on an innovation initiative to solve the issue of diagnosing children with rare diseases, the partners have unveiled an actionable recommendation report and three new digital health pilots. 

“The too often long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being and indeed the very identity of people affected by a rare disease and their families,” Yann Le Cam, CEO of Eurordis-Rare Diseases Europe and Global Commission co-chair, said in a statement. “This report identifies concrete policy and technical actions, mobilizing diverse actors to build on genetic and digital cutting-edge advances.”

The report zeroes in on three main ideas, including empowering patients and families, equipping frontline providers and reimagining genetic consultations. 

The companies said they used these pathways to guide its digital health pilot programs. The first pilot uses multifunctional machine learning to recognize symptom patterns. With the goal of faster diagnosis, the companies employed machine learning algorithms to link subtle symptoms together. The pilot, based at four medical centers in Spain, is specifically aimed at helping doctors who may not have seen a patient with this type of condition before. 

The second pilot, based in Washington DC, is a smart triage system. The program is designed as a collaboration tool and will let genetic specialists give assessments and counseling remotely. It will also include a facial recognition component.  

The last pilot, which will be conducted in Switzerland, is focused on using blockchain technology to help patients and their care providers control personal data. The platform lets patients join a “global patient registry for rare disease patients.” Part of the goal for this pilot is for patients to be able to share and access data more easily. 

Why it matters 

One in 10 people will be impacted by a rare disease, according to Global Genes Allies in Rare Diseases. Children account for half of patients diagnosed with a rare disease and three out of every 10 children with a diagnosis won’t live until their fifth birthday, according to the organization. 

However, the diseases are often misdiagnosed—which can lead to barrier in treatment. 

“Five years to diagnosis is far too long and 40 percent misdiagnosis on the first diagnosis is far too inaccurate,” Dr. Clifford Glodsmith, national director of providers at Microsoft, said today during a livestreamed event. 

In the report, the companies outlines how technology could help improve efficiency, reduce costs and increase patient access within the rare disease world. 

The trend 

This isn’t the first time companies have sought to use digital health to help with rare disease research. In August RDMD, a Bay Area startup that leverages personal health records to accelerate clinical research of rare diseases, raised $3 million in seed funding. 

The push seems to be true across the pond as well. London-based data platform Raremark, a platform focused on rare disease that engages with patients and researchers, announced a $3.9 million funding round in October. 

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