Global Genes partners to elevate equity for rare disease patients

By Jenni Spinner

- Last updated on GMT

(PeopleImages/iStock via Getty Images Plus)
(PeopleImages/iStock via Getty Images Plus)

Related tags Rare disease orphan disease Patient centricity Data Patient recruitment

The advocacy group is joining with the Rare Disease Diversity Coalition on an initiative to identify and overcome challenges faced by minority patients.

International rare disease advocacy organization has announced it has formed a partnership with the Rare Disease Diversity Coalition (RDDC). The collaboration will hone in on accelerating and advancing health equity for rare disease patients and caregivers in underrepresented communities of color.

Linda Blount, president and CEO of Black Women’s Health Imperative, spoke with Outsourcing-Pharma about the partnership, the challenges that reside at the intersection of racial underrepresentation and rare disease, and what solutions to such problems might look like.

OSP: Could you please talk about the challenges that live at the intersection of equity for rare disease patients and representation for patients from communities of color? What problems are common to both, which are unique, which are compounded regarding patients who belong to both groups, etc.?

LB: The extensive timeline to reach a diagnosis is a persistent challenge for patients with a rare disease; however, people of color face additional hurdles in their quest for care. Barriers to diagnosis and treatment for people of color often have deadly consequences. Flaws across the entire system have a compounding effect on the care that Black, Native American, Hispanic, Asian, and Pacific Islander Americans with rare diseases receive.

Obstacles are more pronounced and widespread among people of color, whose lack of access to healthcare, low representation in research and trials, and other challenges can end up causing serious health consequences.  Inadequate insurance limits reduce access to basic care, not to mention that specialists are needed for patients with a rare disease. 

Americans of color continue to be underrepresented in genome-wide association studies and clinical research trials, leading to a lack of understanding about effective treatments, particularly in diverse populations. Despite making up more than 38% of the US population, people of color comprise only 16% of research study participants. On the patient side, people of color are less likely to have affordable access to healthcare and rare disease experts.

To make matters worse, some rare diseases disproportionately impact people of color. For instance, sarcoidosis, sickle cell anemia, thalassemia, and some forms of lupus are known to affect minority populations at higher rates than in the general population. And implicit bias particularly harms people of color with rare diseases.

OSP: Why is GG looking to take on these multifaceted challenges?

LB: As a leading rare disease patient advocacy organization, Global Genes (GG) has a unique opportunity to help level the playing field in rare disease in pursuit of its mission to connect, empower, and inspire the rare disease community to stand up, stand out, and become more effective on their own behalf—helping to spur innovation, meet essential needs, build capacity and knowledge, and drive progress within and across rare diseases. 

In taking on these multifaceted challenges, GG will play a critical role to help identify and shine a light on areas including diagnosis, research, drug development, treatment, and patient engagement to ensure that the voices of communities of color and other underserved populations are represented.  We will work together with other key stakeholders to build awareness, break down barriers, and change the landscape of rare disease for people of color.

OSP: Could you please tell us a bit about the formation of the RDDC, and why you feel this group is well-positioned to take on these challenges?

Linda Blount, president and CEO, Black Women’s Health Imperative

LB: The RDDC was formed under the leadership of the Black Women’s Health Imperative (BWHI) and the founding sponsorship of Travere Therapeutics.  This coalition was founded to help address the extraordinary challenges faced by rare disease patients of color. 

Due to the expertise convened of rare disease experts, patient organizations, health and diversity advocates, and industry leaders with a deep knowledge of the medical, industry, regulatory, and cultural challenges facing people of color with a rare disease, the RDDC is poised to contribute to the progress for both the rare disease and health disparities movements.

OSP: Please share a bit about the members of the group, like the Black Women’s Health Imperative. How did all these dedicated folks come together?

LB: BWHI is an organization that deeply understands the health care challenges faced by people of color with rare diseases. Black, Hispanic, Asian and Pacific Islander, and Native American people with rare diseases often struggle with obtaining a diagnosis and adequate treatment and care. These barriers are even more pronounced and widespread among people of color, whose lack of access to health care, low representation in research and trials, and other challenges can end up causing serious health consequences.

The COVID-19 pandemic has highlighted longstanding health disparities and has renewed focus on racial injustice in the US. These conditions and the opportunity to be a catalyst for change were the inspiration to form the RDDC to work toward progress on rare diseases and health equity and to serve as a bridge between the two movements.

The Coalition’s work is led by BWHI and a leadership steering committee comprised of advocacy, community, and industry leaders who share a vision and a strong desire to work toward specific actions that will result in progress for people of color living with rare diseases. 

OSP: Do GG and the other RDDC members have any specific long- or short-term goals you could share?

LB: The RDDC is poised to achieve action in the years to come by:

  • Reducing racial disparities in the rare disease community
  • Identifying and advocating for evidence-based solutions to alleviate the disproportionate burden of rare diseases on communities of color
  • Helping to achieve greater equality within the rare disease community.

Short-term, the RDDC has convened workgroups to study and discuss needed progress in five key areas for people of color living with rare diseases, including:

  • Delays in diagnosis and treatment
  • Provider education and engagement
  • Patient and caregiving
  • Research and clinical trials
  • Government regulation, legislation, and policy

OSP: If someone is interested in contributing to the RDDC mission, how do they get involved?

LB: Working toward these recommendations will require the commitment and support of industry leaders, issue experts, health care professionals, and patients. Interested stakeholders are invited to join RDDC in this important work.

The Coalition believes firmly in collaboration and leveraging input of stakeholders, including rare disease patients and families, who experience the daily struggles of these issues; patient organizations, who represent and unite those most affected; clinicians and researchers, who drive understanding and evidence across the medical community; private-sector groups, which play a crucial role in supporting research; and policymakers, who drive changes in government policy that lead to progress.

Please contact us if you are interested in becoming a member at​.

OSP: Anything to add?

LB: We hope the ideas discussed in the RDDC are just the beginning.  Our goal is to hone these recommendations and ideas—and to leverage the collective experience, expertise, and ideas within RDDC to drive change for people of color with rare diseases.

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