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Underrepresented and Underserved: How Demographics Compound the Challenges of Fighting Rare Disease


The healthcare journey for a person with a rare disease is a frustrating path of twists, turns, dead-ends, and missed signals that can delay diagnosis for years. On average, it takes roughly five to six years for patients with a rare disease to get a correct diagnosis, during which time roughly three-quarters of patients are misdiagnosed and treated for the wrong condition.

And that’s the baseline. The results are even worse when the patient is a member of a demographic group that’s already subjected to disparities in care. In the Hispanic community, for example, where patients are more than twice as likely to be uninsured than members of the White population and routinely struggle with barriers to care, the experience can be daunting.

Mapping Rare Disease in the Hispanic Community
To help put the challenge in perspective, we queried Komodo Health’s Healthcare Map™ to analyze trends in disease prevalence and real-world patient experience for three rare diseases that impact the Hispanic community: hereditary hemochromatosis, cystic fibrosis, and sickle cell anemia. The baseline results paint a clear picture of just how underrepresented the Hispanic population is in rare disease. Hispanic people account for roughly 18% of the total U.S. population, but they account for just 4.3% of the hereditary hemochromatosis population, 9.2% of the cystic fibrosis population, and 6.3% of the sickle cell anemia patient population.

There can be several reasons for this. Each disease affects individuals differently, and people with different genetic backgrounds can have higher risk factors for different conditions. But with the U.S. Hispanic population topping 62 million, we would have expected to see higher representation in these patient counts.

Finding the Right Providers
Digging a little deeper into the data, we found that one potential cause could be a lack of Hispanic representation in the provider community. In fact, when screening the data to identify the healthcare providers who are seeing the largest numbers of patients with these three rare conditions, we found that less than 1% of all healthcare providers who treat hereditary hemochromatosis, cystic fibrosis, and sickle cell anemia practice in cities that are primarily Spanish speaking. Specifically, just 0.31% of providers diagnosing hereditary hemochromatosis have a primary affiliation in a majority Spanish-speaking metropolitan and micropolitan area. For cystic fibrosis, that total is 0.56%; for sickle cell anemia, it is 0.35%. 

This is a problem. One of the biggest issues confronting rare disease diagnosis of any type is lack of exposure on the part of providers. With each of these conditions affecting fewer than 200,000 people per year, it is fairly common for many physicians to go an entire career without encountering them. Add potential language barriers to the mix and it starts to become clear how a significant disparity in care can perpetuate over time.

Leveraging Real-World Data To Close the Gap

Addressing these barriers will require a multifaceted, comprehensive approach that includes targeted interventions to improve access to health insurance and to providers who have experience treating these rare conditions. Insights derived from real-world patient-journey data can help improve outcomes for the Hispanic community by empowering healthcare providers, policymakers, academics, and Life Sciences teams with accurate, up-to-date information that is reflective of the true experiences of these patient populations. 

Leveraging these insights, improvements can be made in recruitment for clinical trials and in developing targeted interventions and policies that address community-specific challenges. Insights derived from real-world evidence can also help develop community-specific registries for rare diseases and create provider education programs to build strong bonds among Hispanic patients, researchers, and healthcare providers. Patient education programs delivered in Spanish can help increase treatment adherence rates and reduce the mental and emotional toll on patients already struggling with a complex disease. Increased funding from government, private, and philanthropic efforts will be indispensable to supporting the inclusion of this community in rare disease research. 

SHER and Komodo Health share a mission to both identify disparities in access to care and inform efforts to improve access and outcomes for Hispanic/Latino rare disease patients. We hope that the insights derived from real-world experiences help in building a roadmap for improving care, experiences, and outcomes in this underserved community.

About SHER: The Sociedad Hispana de Enfermedades Raras (SHER) promotes public awareness of rare diseases, provides information and resources in Spanish, and helps U.S.-based patient organizations have assertive communications with their community of Spanish-speaking patients. SHER promotes inclusion, equity, and knowledge for Hispanic families living with rare diseases through a resource portal in Spanish.

To read this article in Spanish, check out Subrepresentados y desatendidos: cómo la composición demográfica agrava los desafíos en la lucha contra las enfermedades raras

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