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.
- 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 diagnosis.
- 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 opportunities.
- 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.
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.
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