Today, Takeda and the National Organization for Rare Disorders (NORD) released a new report that calls for changes to shorten time to diagnosis and improve health equity for all people living with rare diseases. Getting an early and accurate diagnosis is critical to improving care and quality of life for all individuals living with a rare disease. Yet, the average time from symptom onset to diagnosis is 6 years – and even longer for underrepresented and marginalized patients.
The report titled, “In Pursuit of Health Equity for the Rare Disease Community: Insights and Recommendations for Improving the Rare Disease Diagnostic Journey for Diverse Populations,” outlines four different actions that may reduce diagnostic barriers and advance health equity for diverse individuals living with rare diseases including:
- Increase equitable access to genomic sequencing by enhancing HCP and patient education, insurance coverage and genetic counseling workforce diversity.
- Expand support for and access to centralized and specialized care by improving telehealth and partnerships with primary care providers as well as community health workers.
- Reduce barriers to research participation and improve data landscape for a diverse population through fair compensation, community trust and including health equity in trial design.
- Invest in accessible and culturally relevant resources using digital materials offered in many languages and an emphasis on diagnostic education.
The report builds on prior research Takeda conducted with rare disease advocacy groups that outlines historic hurdles for those living with rare diseases and more that can be done to improve diagnosis— especially those impacted by health inequities driven by systemic issues and factors, such as structural bias, institutional racism and the social determinants of health (SDOH).