Bringing Social Justice to the World of Rare Disease

The Black Women’s Health Imperative, a nonprofit organization dedicated to advancing health equity and social justice, has established the Rare Disease Diversity Coalition to focus on reducing racial disparities in the rare disease community.

The announcement comes against the backdrop of what some have called the “twin pandemics,” referring to the pervasive racism that has come to widespread recognition with the death of George Floyd at the hands of Minneapolis police officers and the COVID-19 outbreak that has hit people of color hardest.

“We’re facing two pandemics right now,” said Tammy Boyd, chief policy officer and counsel for the Black Women’s Health Imperative. “In both instances, they exacerbate the ability of people with rare disease to receive treatment.”

While the challenges of finding a diagnosis and treatment for a rare disease are well documented, racial disparities can intensify the ability to access care, lead to underrepresentation in research, and impede participation in clinical trials. It contributes to the challenges of getting a timely diagnosis and adequate treatment, and delays in doing so can result in more serious health consequences for people of color.

The issues are layered and complex. Social determinants of health, such as income and environment, can play a role in worsening health outcomes for minorities. At the same time, there is distrust within the African American community toward biomedical researchers and doctors due to a history of events ranging from the Tuskegee study (in which African American men who were infected with syphilis were followed by doctors, but denied treatment) to the case of Henrietta Lacks, whose cancer cell line has been central to research, but were used without her consent or knowledge and without compensation.

The Rare Disease Diversity Coalition will identify and advocate for solutions to address the disproportionate burden of rare diseases on communities of color. Early efforts will include crafting a policy agenda and publishing a white paper that identifies the range of challenges people of color with rare diseases face.

The coalition’s steering committee is made up of rare disease experts, health and diversity advocates, and industry leaders. It is led by the Black Women’s Health Imperative and it has named a leadership steering committee comprised of advocacy, community, and industry leaders. The coalition is supported by founding sponsor Retrophin. The organization said it expects to expand the coalition’s membership, including enlisting additional industry support.

Kimberly Haugstad, CEO of Global Genes (publisher of RARE Daily), who is a member of the coalition’s steering committee, said the work of the coalition is “incredibly important” and noted Global Genes in 2019 developed a 10-year plan that included a focus on inclusion and diversity.

“It’s the right thing to do,” she said, “and it’s also good science.”

The collective outrage and the widespread protests that have extended beyond U.S. cities to countries around the world has corporate and nonprofit leaders adding their voices to the call for racial justice and acknowledge their own organization’s shortcomings.

If the COVID-19 pandemic has taught us anything, it is that we all pay a price for inequities in healthcare. The same is true in the rare disease space, where expanding patient communities are critical to developing an understanding of a condition and driving action to combat it.  

Let’s hope those people who have spoken out will follow with action and put their money and muscle behind their words.