Oral Health Provider Perspective on Facilitators and Barriers to Rare Disease Diagnosis and Management

Background Approximately 15% of rare diseases present with orofacial manifestations, placing oral health providers in front-line positions for timely diagnosis. A recent study investigated barriers to care from the perspective of people living with a rare disease and found access to oral health care a key barrier. The goal of our study was to investigate this disparity by assessing the ‘state of rare disease management and diagnosis and subsequent barriers,’ as reported by oral health providers actively practicing in a single midwestern state. Results Seventy oral health providers completed the survey. Overall, these providers were not at all or somewhat familiar with rare disease, and most felt this knowledge adequate for their practice needs. Most oral health providers referred to specialists and few were comfortable accepting care for a person with a rare disease. Most indicated formal dental training programs did not adequately cover rare disease diagnosis and management and felt additional professional education would be beneficial. Dental insurance was a barrier to all aspects of care (diagnosis, referral, treatment plan) and became more acute for people with rare disease transitioning from pediatric to adult oral health providers. Conclusions Oral health providers are often the first point of contact for people experiencing symptoms of rare disease and play a key role in identifying, diagnosing, and treating these conditions. Strategies to enlist oral health providers as equal partners in the rare disease health care team is essential to timely diagnosis and management. This reality is only possible with timely access to knowledgeable and confident oral health providers for both children and adults. For people living with a rare disease in the U.S., oral health access is determined by individual state policies that define a limited set of conditions covered by dental insurance plans. Excluded conditions, which often include congenital anomalies and birth defects, must be deemed medically necessary by the insurer before coverage is applied. The responsibility for ‘making the argument’ for medical necessity disproportionately falls to patients, families, and oral health providers and compounds health inequities experienced by people living with a rare disease.