The long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being and the very identity of people affected by a rare disease and their families. 72% of rare diseases are genetic and 70% of those genetic rare diseases start in childhood. Despite advancements in medicine and technology, it can still take an average of five years or longer before a child living with a rare disease is able to receive an accurate diagnosis.

In 2018, Takeda, Microsoft and EURORDIS-Rare Diseases Europe formed the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease (“the Global Commission”) in order to bring the technology and rare disease communities together to overcome the complex barriers to a faster diagnosis. Since then, the Global Commission has been working to empower patients, families, and healthcare providers to accelerate the time to accurately diagnose a child with a rare disease by harnessing the power of technology, developing supporting policies, and driving increased awareness.

The Global Commission recently gave an update about the group’s work during the 10th Annual European Conference on Rare Diseases & Orphan Products (ECRD) virtual event, outlining its progress and path forward to accelerate the time to diagnosis. During the session, speakers including Global Commission Co-Chairs Wolfram Nothaft, M.D., Chief Medical Officer at Takeda, Gregory Moore, M.D., PhD., Corporate Vice President at Microsoft Health and Yann Le Cam, Chief Executive Officer at EURORDIS, who shared the Global Commission’s vision and goals, plans for an upcoming patient empowerment campaign and updates about innovative technology health pilots the group has been advancing. Listed below are a few key updates:

​​​Since the launch of the Global Commission’s Year-One Report outlining actionable recommendations to end the diagnostic odyssey, the group has been supporting Foundation 29 in their development and testing of a digital platform called Dx29. The tool uses artificial intelligence to support frontline providers by linking disparate symptoms and expediting patient diagnosis. Test cases show that Dx29 has helped lead to a correct diagnosis 79% of the time.

​​Now more than ever, providers are looking for innovative solutions to help them care for patients in efficient, effective ways. The second pilot, launched at Children’s National Hospital in Washington, D.C., utilizes telemedicine to enable physicians and specialists to more easily collaborate through the use of virtual tools – such as facial recognition, video visits, and a triaging system. By delivering genetic assessments and counseling remotely to patients and primary care physicians, it reduces the time and cost burden of in-person consultations for the patients who often see multiple specialists before receiving a rare disease diagnosis.

A multi-channel patient empowerment and awareness campaign is being developed in close partnership with medical experts from the Global Commission and local patient organizations to increase awareness of a rare disease as a consideration among parents and/or caregivers searching for a diagnosis for their child. By leveraging multiple digital channels, the campaign drives effective conversations between parents and HCPs, and it ensures parents are reached in the right way, with the right message, at the right time.

The Global Commission recognises that there have been many impactful initiatives and technologies introduced in recent years that can help to speed the diagnostic timeline for rare disease patients, and plans to collaborate with other key players.

Yann Le Cam, Global Commission co-chair, commented “We benefit from the expertise of the Commission members and our collective track record of successful collaboration with multi-stakeholder partners to bring solutions to people living with a rare disease. Over the next five years, we aim to foster global collaboration and build on critical work underway to achieve greater impact in speeding up time to diagnosis. We plan to partner with other key rare disease organisations and leaders to develop new standards of practice for diagnosing rare diseases, leveraging advances in technology and genetics.”

“Over the next five years, we aim to foster global collaboration and build on critical work underway to achieve greater impact in speeding up time to diagnosis“
Yann Le Cam Global Commission co-chair

To learn more, you can view a brief video which provides an overview of the group’s progress to date and path forward to have a far-reaching impact – benefiting not only those living with a rare disease and their caregivers, but ultimately for all patients. A recording of the full ECRD session can also be found here.

As the Global Commission considers future efforts, the group would like to learn about the areas of interest and the relevant work that other parties are progressing. If you are interested in supporting the work of the Global Commission, you can complete this form.
The Global Commission will continue to take concerted action to advance its vision: A clear path to a timely, accurate diagnosis for children around the world.

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