Coalition Will Address Racial Disparities in Rare Disease Communities

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community.

Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit. But people of racial and ethnic minorities must frequently overcome even greater challenges.

The National Institutes for Health estimates that between 25 million and 30 million Americans have a rare disease. Because of their relative obscurity, accurate diagnosis of these diseases often takes longer than in more common disorders. Estimates indicate that patients may wait nearly five years and see an average of seven different doctors before their condition is accurately diagnosed.

If the barrier to care is higher for rare diseases in general, minorities often find it slightly higher.

Scientifically, minorities are chronically underrepresented in many population genetic studies. As genetic abnormalities underlie many rare diseases and as certain genetic conditions disproportionately affect communities of color, having a vast majority of participants of European descent creates significant knowledge gaps that can directly affect patient care and the ability to tailor treatments.

Social determinants of health, such as poverty, add to the obstacles faced by many minorities. Poor economic standing limits access to healthy food, safe neighborhoods, affordable healthcare, and proximity to hospitals.

As a further barrier to treatment, less than 10% of rare diseases have a treatment approved by the U.S. Food and Drug Administration. For those who already struggle to gain access to needed healthcare, the need for better access becomes clear.

The BWHI and a steering committee made up of rare disease experts, health and diversity advocates, and industry leaders head the Rare Disease Diversity Coalition. The committee recently held its inaugural meeting, in which it discussed plans to identify and advocate for evidence-based ways to ease the disproportionate burden of rare diseases on minority communities.

The coalition is sponsored by Retrophin, a biopharmaceutical company seeking to identify, develop, and deliver life-changing therapies to people with rare diseases. As the coalition’s work begins, plans include adding more members and having greater support from the industry.

In the effort to level the playing field for minority individuals with rare diseases, BWHI draws a parallel to the COVID-19 pandemic.

“The COVID-19 pandemic, which is devastating communities of color, is a painfully fresh reminder of the disparities in our healthcare system that leave minorities behind,” said Linda Goler Blount, BWHI president and CEO, in a press release. “For those living with a rare disease, these disparities are no different: communities of color face unacceptable barriers to accessing a diagnosis and proper treatment. I’m honored to work with our esteemed steering committee to take urgent action on this issue.”