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The Rare Disease Diversity Coalition (RDDC) is dedicated to acting as a catalyst for people with rare diseases from diverse backgrounds and the incredible difficulties they encounter. To reduce the unequal burden that rare diseases place on communities and promote greater equity within the rare disease community, we strive for and advocate for evidence-based solutions.

On March 21st, I had the honor of serving as a moderator for the Integrating Racial Disparity into the Rare Disease Conversation, a general session panel held during the Rare Disease Innovation and Partnership Summit. The Rare Disease Summit connects key stakeholders to drive therapeutic progress, propel commercial strategies, and inspire impactful advocacy. Sessions from the conference were provided by experts to give attendees solution-focused strategies surrounding patient access, reimbursement, partnership, and unification around areas of unmet medical need.

The theme of the panel was racial disparities in the healthcare system and tangible steps companies can take to truly understand, identify, and remedy the gaps in support for people living with a rare disease. This expert panel included Mary McGowan, MHRM CEO of Foundation for Sarcoidosis Research, Michelle Rivas Notestine, Senior Manager Product Communications of Horizon Therapeutics, and Patroski Lawson Co-Founder of African American Men in Biotech and Founder of KPM Group

We began the discussion by defining health equity, racial and health disparities, and affirming that every human being has the fundamental right to the highest standard of health, and moved into a robust discussion. The key takeaways from our discussion were:

  • Access to care is uneven for people of color who have a rare disease, and they are underrepresented in clinical trials and research. These differences, when combined, exponentially increase the difficulty of prompt diagnosis and appropriate treatment, having negative effects on one's health. Moreover, impediments including time limits and a lack of diversity in the healthcare sector, as well as inaccessible services and systematic causes, all contribute to disparities.

  • More often than in the past, the topics of racial disparities and health equity are discussed across the healthcare setting. Nevertheless, the decision-makers in the room do not accurately reflect the affected populations. Diversity in the healthcare system guarantees that everyone is represented, but efforts to increase equity must continue after this point. The executive level (c-suite) should be inclusive of all people. 

  • We need to change the way we think when considering DEI initiatives as a way to improve health equality since diversity and representation are not the same things. Making sure there are people from various backgrounds is part of promoting diversity. The degree to which the contributions, presence, and viewpoints of other groups of individuals are appreciated and incorporated into a setting is referred to as inclusion. The inclusion of the voices and experiences of many populations constitutes representation.

  • The practice of DEI can be applied to achieve the objective of raising health equity. To achieve health equity, however, the eradication of healthcare imbalances as well as focused and continuing societal activities to correct historical and present injustices are all essential.

  • Social determinants of health and health disparities must be addressed if health equity is to be achieved. It entails recognizing and combating racism as a risk to public health as well as the history of unethical public health practices that result in unequal health outcomes. 

  • The lack of equal representation in clinical trials affects health outcomes for patients diagnosed with rare diseases. Bias and discrimination in the healthcare system impede awareness and access to clinical trials for rare patients of color. 

  • Mistrust, lack of knowledge, and unfamiliarity with the research process (e.g. understanding IRB), logistical difficulties (i.e. time), and low awareness of clinical trials (i.e. information not being shared with diverse groups) are some of the additional challenges at the community level. Working with patients, advocacy groups, support groups, and community groups on the community level, in the healthcare system, and at the academic level can help to build trust and identify better paths to diagnosis, treatment, and participation in clinical trials. 

Our conversation closed with fellow panelists sharing actionable efforts to address racial disparities in rare diseases. One actionable way is through convening key opinion leaders from diverse backgrounds. Patroski is doing this work by co-founding and convening the African American Men in Biotech group to ensure greater diversity and inclusion in biotech. 

Another actionable way is through engaging patients, experts, and leading organizations to explore how to improve representation and inclusion in clinical trials and the challenges associated with rare diseases. Mary and the Foundation for Sarcoidosis Research published a white paper last April, sharing meaningful steps that were identified at their Disparities and Diversity in Sarcoidosis Summit. The actionable steps towards addressing disparities and diversity in the care of patients living with sarcoidosis can be found in the white paper, “Distinctive: Discussions of Disparities & Diversity in Sarcoidosis. Addressing Disparities and Diversity in Care of Patients Living with Sarcoidosis to Improve Diagnosis, Treatment, and Outcome”.  

Also, companies can support patients and advocacy organizations to move the needle toward greater equity. Michelle and Horizon Therapeutics launched the inaugural #RAREis Global Advocate Grant that supports small, often overlooked rare disease advocacy organizations addressing areas of equity in rare diseases. Additionally, in partnership with EveryLife Foundation, Horizon also launched the #RAREis Scholarship that supports education equity for students living with rare diseases who attend trade, 2-year, and 4-year academic institutions. 

Lastly, companies can also collaborate with stakeholders to address key areas for achieving greater equity. RDDC’s efforts to achieve greater equity are executed through five workgroups that were developed to tap into the collective expertise and experiences of various stakeholders to address key areas for people of color living with rare diseases. Our Delays and Diagnosis work group seeks to increase understanding and trust while addressing the disparate obstacles that diverse patient populations frequently face when seeking a diagnosis. The Provider Education and Engagement work group focuses on educating medical professionals on the effects of rare diseases on communities of color, recognizing rare disease symptoms, and treating patients with rare diseases. The Patient and Caregiver work group aims to assess the coverage, access, affordability, timely treatment, and underrepresentation of diverse patients and their caregivers within the rare disease community as barriers that must be addressed and removed. The Government Regulation, Legislation, and Policy work group aims to raise awareness in the public policy landscape in understanding issues surrounding diversity and rare diseases, particularly as they pertain to patients of color. The Diversity in Research and Clinical Trials work group aims to solve the systemic and pipeline issues which discourage low-income individuals and communities of color from taking part in clinical trials.

In conclusion, I would like to end with a final note and question: We know that people living with rare diseases strive to receive adequate healthcare and that people with rare diseases from communities that have been historically marginalized fight every day for equity while contending with the reality of historical racism and bias and its varying social, economic, and health effects. We are aware that significant effort is needed to address and eliminate racial and health disparities. What actionable steps can you and your organization make to move from health equity discussion to health equity action? 

Post by Rare Disease Diversity Coalition
October 24, 2023