The rare disease in question suffers from significant underdiagnosis and underdocumentation due to the absence of a specific ICD-10 code and the heterogeneous nature of its phenotype. Despite the necessity for genetic testing to confirm diagnosis, even confirmed mutations often have limited impact on patient care, complicating efforts to establish clear identification and treatment guidelines. With better documentation the patients journey will improve and HCPs will see higher treatment success rates.
CASE BACKGROUND
- Condition is a rare disease that is underdiagnosed and underdocumented because of lack of ICD-10 code
- Heterogeneity in phenotype makes it hard to establish clear guidelines on how to identify disease and target specialty
- Genetic testing needed for diagnosis; but even if mutation is confirmed, it has limited impact on patient care
Most Common Leakage Points in the Journey to Diagnosis and Treatment Include
Hidden Disease
HCPs/patients/caregivers do not recognize early symptoms as cause for concern
No Referral
Physician does not refer patient for further workup because of mild or unspecific symptoms
NO GENETIC TEST
HCP does not order genetic test to confirm underlying cause
INCONCLUSIVE TEST
Genetic test result comes back as a variant of uncertain significance
UNACTIONABLE DIAGNOSIS
There is currently no treatment beyond solid organ transplant
EXAMPLE PORTFOLIO OF PROJECTS TO SUPPORT PATIENT IDENTIFICATION
ICD-10 CODE SUPPORT
Develop proposal to be submitted to the ICD-10-CM Coordination and Maintenance Committee
Coordinate with KOLs and patient groups to ensure support for submission
PATIENT SURVEILLANCE SURVEY
Use quantitative research with HCPs to estimate and confirm number of diagnosed patients in the US/EU
Use broad approach to look for patients outside known expert centers based on claims data analytics
PATIENT FINDING ANALYTICS
Develop patient profiles leveraging predictive analytics to create a model for identifying undiagnosed patients
Leverage outputs from primary research to further train/refine model to maximize number of “true positives”
GENETIC TESTING LAB STRATEGY
Aggregate genetic prevalence of mutations by surveying top genetic testing facilities
Identify opportunities for partnerships with labs
ADVISORY BOARD & DISEASE EDUCATION WHITE PAPER
Coordinate and facilitate meeting with top KOLs to build consensus about disease diagnostic process
Develop consensus document (eg, white paper/publication)
PATIENT JOURNEY
Use qualitative research to map patient journey and identify pain points from a patient perspective
Identify leakage points and develop recommendation
EXAMPLE OUTPUTS
Treatment Center database and patient heat map
2. Detailed map of patient journey and leverage points
3. Claims-based AI modeling to develop target lists with diagnosed and yet-to-be diagnosed patients
APPLICATIONS
- Precommercial: plan strategy and tactics
- Clinical development: drive clinical trial enrollment by identifying relevant providers and patient clusters
- Medical affairs: publish patient finder outcome
