The journey to diagnosis is a long and often confusing experience for Persons Living with a Rare Disease (PLWRD) and their loved ones.
the challenge of Diagnosis
In countries with relatively well-resourced health systems, it can take over five years to reach the correct diagnosis, and for many PLWRD around the world, an adequate diagnosis is never reached.
With over 6 000 rare diseases identified, recognizing a patient with a rare disease can be particularly challenging.
Insufficient screening programmes, including newborn screening, and unequal access to diagnostic services, infrastructure, and expertise contribute to delayed diagnosis.
Almost half of genetic diseases start at childhood. Timely diagnosis and early access to care can slow disease progression and save lives.
Furthermore, a condition that is nameless and misunderstood is invisible to society. For the community of Persons Living with a Rare Disease, diagnosis gives greater visibility and facilitates social inclusion
SUPPORTING DIAGNOSIS
GLOBAL COMMISSION
DIAGNOSIS SURVEY
Genomic technologies
Key Resources
- Rare Disease International – “International Joint Recommendations to Address Specific Needs Of Undiagnosed Rare Disease Patients”. 2016
- Global Commission – “Year One Report”. 2019
- Taruscio D et al. – “Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs”, Molecular Genetics and Metabolism. 2015