Dr Charles Steward, Patient Advocacy and Engagement Lead at Congenica, comments on the recent Raconteur report that considers some of the lived experiences of rare disease patients, and explores opportunities for improved testing, diagnosis and treatment.
Dr Charles Steward said: “Working within the rare disease community, we see firsthand how real the diagnostic odyssey is for so many patients and their families - despite the "rare" label. Yet many physicians are unlikely to come across these cases, unless they specifically work in a field where such diseases present, such as pediatric neurology. As the report states:
94% of physicians rate their knowledge of rare disease as poor or insufficient, and 50% of people with rare diseases are undiagnosed.
“Genome sequencing is the key to unlocking answers for undiagnosed patients, but this does mean that a whole new area of clinical practice is opening for physicians to understand and to be able to discuss with their patients.
Infographic from the Raconteur Rare Disease report *
“For many patients and non-specialist physicians, the journey from disease presentation through to diagnosis is a mystery. This is why we have developed the “Opening the Black Box” initiative, which through a series of short films and interviews reveals the diagnostic journey of a parent and her young son. These begin with the first indication of medical concerns through the diagnostic process of obtaining clinical advice, going through DNA sequencing and analysis, then finally discussing and understanding the findings.
“We hope this resource will demystify genome sequencing and raise awareness of the options that are available to rare disease patients.”
* View the Raconteur report Rare Diseases 2021 - Raconteur