– Global Commission’s recommendations focus on three solution pathways that leverage technology to address key elements of the rare disease diagnostic odyssey
– Rare diseases remain undiagnosed as patients struggle to navigate complex health systems to receive accurate diagnoses, which can take an average of five years to receive, even in countries with sophisticated health systems.
The Global Commission to End the Diagnostic Odyssey for Children (“the Global Commission”), co-chaired by Takeda, Microsoft and EURORDIS-Rare Diseases Europe, an alliance of more than 800 rare disease patient organisations, today announced its actionable recommendations in a report to address the barriers to diagnosis for people living with a rare disease.
In 2018, the Global Commission Co-Chairs, Shire (now Takeda), Microsoft, and EURORDIS, joined forces to bring together a multidisciplinary group of patient advocates, physicians and other experts to help solve the complex challenges impacting the rare disease community. Over the past year, the Global Commission gathered input from patients, families and other expert advisors to gain key insights to guide solutions to shorten the rare disease diagnosis timeline. The roadmap’s recommendations can be mapped back to three solution pathways:
1. Empowering patients and families: Create opportunities to develop tools for
caregivers to connect seemingly unrelated symptoms, inquire about
additional testing and work together with physicians to achieve a correct
2. Equipping frontline providers: Examine ways to equip physicians with the
knowledge and tools to quickly and effectively 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
3. Reimagining the genetic consultation: Identify innovative ways to enable
medical geneticists to see priority patients more quickly, such as
standardizing reporting methods and utilizing telemedicine for increased
access to more patients.
“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 Wolfram Nothaft, M.D., 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.” [1,2,3]
“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. This report identifies concrete policy and technical actions, mobilizing diverse actors to build on genetic and digital cutting-edge advances,” said Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe and Global Commission Co-Chair.
The Global Commission is supporting three pilot projects to bring its solution pathways to life, utilizing the expertise of its members and engaging like-minded partners who are pushing the boundaries of innovation. The pilot programs include 1) multifactorial machine learning to recognize symptom patterns, 2) collaboration tools for “intelligent triage” and clinical geneticist virtual panel consultation, and 3) developing a secure patient registry and rare disease passport, which may use emerging technologies like blockchain.
“We believe that technology provides an unheralded opportunity to help overcome the barrier of ‘rare,’ and unfortunately, ‘rare’ often means ‘off the radar,'” said Dr. Simon Kos, Chief Medical Officer and Senior Director, Microsoft Worldwide Health and Global Commission Co-Chair. “Many of our recommendations address distinct challenges within rare disease that technology is uniquely equipped to solve.”
In its roadmap, the Global Commission also emphasizes the importance of global policy frameworks for rare diseases to be recognized as an international public health priority. The policy recommendations, designed to support and enable the specific solution pathways, focus on four key areas: Centers of Excellence, Genetic Screening, Data Sharing and Privacy.
The Global Commission will discuss its recommendations live and via global livestream at the simultaneous roadmap launch events at Microsoft Headquarters in New York, NY and Brussels, Belgium, on February 20th, beginning at 11:00 a.m. ET / 6:00 p.m. CET. On February 28, in Beijing, China, coinciding with Rare Disease Day, the Global Commission will co-host a launch event with the Chinese Organization for Rare Disorders (CORD) to further discuss the implications of the Global Commission’s recommendations for the rare disease community.