The September R69 Initiative International Roundtable was chaired and hosted by HealthWeb Solutions director, Simeón Baker, joining with R69 Initiative founder Helen Hernandez, to welcome attendees from around the world.
The full roundtable discussion can be viewed on YouTube here.
Sim chaired an in-depth discussion with roundtable delegates, hearing rare disease perspectives from patients, clinicians and researchers in various countries and different healthcare systems. Dr Charles Steward shared his own story on the diagnostic odyssey his family has experienced. Helen provided an update on R69 Initiative activities and priorities.
The R69 Initiative
Although diagnostic uncertainty is routinely encountered, it is generally poorly defined, poorly understood and therefore not well-quantified in a clinical setting.
The R69 Initiative proposes a more effective use of the ICD-10 code R69 to denote a certain degree of diagnostic uncertainty, allowing more rapid evaluation of how many cases at a given point in time are diagnostically ‘uncertain’, ‘undiagnosed’, ‘not yet diagnosed’, and/or ‘illness, unspecified’. This has the potential to be used as the foundation from which meaningful action steps can accelerate the path to a rare disease (or otherwise difficult to diagnose) diagnosis.
This is of particular importance to the rare disease population where the diagnostic odyssey for patients can take an average of around seven years to receive an accurate diagnosis, during which time patients may undergo many unnecessary, invasive and painful procedures.
By definition, these conditions are so rare that often-times doctors and nurses have never seen another case of a particular condition and have very little hope of arriving at a proper diagnosis. The negative impact on the patient, care givers and wider family cannot be overstated. As advances in genomics increase, it is of vital importance that deep phenotyping of patients and their families is carried out, to give the best chance of getting a successful diagnosis.