Q&A: Race and rare disease

It takes five years and up to seven clinicians on average to get a rare disease correctly diagnosed. It can be even more difficult if you’re a person of color, says Tammy Boyd, MPH, JD, chief policy officer of the Black Women’s Health Imperative, and Kimberly Haugstad, MBA, co-founder of Upequity and former CEO of Global Genes, a worldwide rare disease organization.

Boyd and Haugstad are on the steering committee for the Rare Disease Diversity Coalition (RDDC), which was launched by the Black Women’s Health Imperative to address the “extraordinary challenges faced by rare disease patients of color.” These challenges include underrepresentation in genomewide studies and clinical research trials, as well as broader racial disparities in access to affordable care and social determinants of health. All of those challenges can worsen an already arduous process for the one in 10 Americans suffering from a rare disease.

PSMJ spoke with Boyd and Haugstad about their thoughts on race and rare disease. This Q&A has been lightly edited for clarity.

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