Global collaboration publishes recommendations to speed rare disease diagnosis

The Global Commission to End the Diagnostic Odyssey for Children has today published recommendations on how to solve the challenge of diagnosing rare diseases. The commission was set up by Takeda, Microsoft, and EURORDIS-Rare Diseases Europe to find solutions to core barriers preventing timely diagnosis for rare diseases. Its recommendations focus on three solution pathways that leverage technology to address key elements of the rare disease diagnostic odyssey. 

The first is to empower patients and families to become more proactive in getting a diagnosis as quickly as possible. Patients, caregivers, and frontline providers often do not suspect that a patient may be suffering from a rare disease, thus extending the diagnostic journey. Parents and day-to-day caregivers are the critical source of patient information about children for the physician, so equipping families and caregivers with the tools they need to work collaboratively with their physician to connect seemingly unrelated symptoms, or inquire about additional testing is both empowering and an effective route to achieve a correct diagnosis.

The next solution pathway considers means to equip frontline providers with the knowledge and tools to identify patients who may have a rare disease and take appropriate action through solutions such as machine learning technology, expert-level guidance and genetic testing opportunities.

Finally, the commission recommends developing innovative ways to enable medical geneticists to see priority patients more quickly, such as standardising reporting methods and utilising telemedicine for increased access to more patients, especially those in remote areas.

"There are more than 6,000 identified rare diseases, the vast majority of which begin in childhood, with patients receiving a misdiagnosis more than once in 40 percent of cases," said Dr Wolfram Nothaft, Chief Medical Officer of Takeda and Global Commission Co-Chair. "As champions for those living with a rare disease, we've outlined real solutions to lessen the time to diagnosis for the more than 300 million people affected worldwide."