The pandemic has focused a white-hot spotlight on health disparities, particularly those related to COVID-19. Still largely hidden from public view, however, are the challenges facing minoritized communities living with rare diseases.
Craig Martin
CEO, Global Genes
No matter what race, culture, or background you come from, if you have a rare disease, you are already underserved. Rare diseases collectively affect more than 400 million people worldwide (that’s about the number of people estimated to have had COVID-19). Yet for more than 95 percent of the hundreds of millions living with rare diseases, there are no vaccines, no approved treatments, and no globally funded and orchestrated efforts to urgently find cures.
More than 80 percent of rare conditions have a genetic basis, so people with rare diseases typically couldn’t have done anything to avoid having one. More than half of the rare disease population is made up of children, and nearly a third of those children will die by the age of 5. It takes five to seven years on average to get a diagnosis for a rare disease — literally more than a lifetime for some. Adolescents and adults often face severe, debilitating, or deadly impacts from rare diseases. In the absence of approved medicines, the cost of hospitalization and other interventions associated with rare diseases was estimated to be nearly a trillion dollars in the United States alone in 2019.
Lack of access
Now consider the plight of rare disease patients and families from communities that are already disproportionately disadvantaged in our healthcare system. The lack of access to screenings, genetic testing, and medical specialists can further extend the diagnostic odyssey, leading to even worse outcomes and greater suffering. The financial hardships associated with rare diseases — which extend well beyond medical costs — can also be crippling.
The difficulties of diagnosing and reaching patients with rare diseases from minoritized communities can also lead to significant under-representation in clinical trials, which quite often is the only hope for treating a rare condition. Investment in research and drug development for rare diseases that disproportionately impact minoritized populations has also lagged, further diminishing prospects for access to effective treatments.
Improving healthcare equity
In 2021, Global Genes partnered with the Rare Disease Diversity Coalition (RDDC) to help address problems and find solutions for critical challenges that those in minoritized communities face. This partnership included a summit in November that brought together stakeholders to explore and identify actionable takeaways for partners across the rare disease community. These discussions and related outputs were captured in a report released in early March.
As a next step, the partnership will launch a campaign to reach communities of color with a focus on discovering and learning about one’s family medical history. This has been identified as a glaring yet common gap in BIPOC communities, lengthening time to correct diagnoses and appropriate treatments.
As more resources and programs become available for already underserved rare disease patients and families, we need to ensure these advancements are inclusive of and equitably accessible to minoritized populations within the rare disease community. And we need to make our collective voices heard in unison so addressing unmet needs across all populations living with rare diseases becomes the public health priority it deserves to be.