Rare Disease Day 2022

Report shines a light on unique challenges of rare disease patients

By Jenni Spinner

- Last updated on GMT

(Marko Geber/iStock via Getty Images Plus)
(Marko Geber/iStock via Getty Images Plus)

Related tags Rare disease orphan disease Patient centricity patient engagement Clinical trials

In its latest diversity, equity and inclusion report, Global Genes offers insight into obstacles faced by rare-disease patients from minority communities.

Rare disease​” could be considered a misnomer. True, one of these conditions might be by itself uncommon, but collectively, rare diseases impact millions of people around the world. Such patients can feel alone as they struggle with receiving an accurate diagnosis, connecting with adequate care, and accessing resources—problems that can be greatly exacerbated for patients from underrepresented communities.

Global Genes has released its 2022 Rare Disease Equity, Diversity, and Inclusion Report: Turning Words Into Action to help shine a light on some of the challenges faced by rare disease patients. Outsourcing-Pharma recently connected with Craig Martin, CEO of the rare-disease solutions organization, to learn more about the report and what it reveals about issues in the rare disease space.

OSP: Could you tell us about some of the challenges that patients who live with a rare disease and are a member of a minority community face?

CM: People living with rare diseases are already inherently underserved. Although roughly 10% of the global population has a rare disease, people with rare conditions endure extended diagnostic odysseys and struggle to get their conditions recognized and prioritized. If or when finally diagnosed, which on average takes five to seven years, they face a  95% probability that their rare disease doesn’t have an approved treatment.

These challenges and disparities are even greater for communities of color and other minoritized populations. These groups face biases and a lack of access to testing that further extends the time to diagnosis and limits access to clinical trials and treatments, if available. They often struggle to connect with others in their disease community and to find and receive treatment from qualified medical specialists, which further diminishes their potential for positive outcomes.

OSP: Please share why Global Genes and the Rare Disease Diversity Coalition (RDCC) decided to launch the RARE Health Equity Summit, and what happened at the inaugural event in November.

CM: For rare disease patients, the challenges are many, but for people of color with a rare disease, these challenges are compounded. Communities of color are underrepresented in genome-wide association studies and clinical trials, and often face significant additional barriers in access to diagnosis, treatment, and care.

The RARE Health Equity Summit was part of three initiatives born out of the Global Genes partnership with the RDDC. The RDDC brings together rare disease experts, health and diversity advocates, and industry leaders to identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on communities of color.

The RDCC mission aligns with that of Global Genes, which is to connect, empower, and inspire the rare disease community to stand up, stand out and become more effective on their own behalf. These efforts help spur innovation, meet essential needs, build capacity and knowledge and drive progress within and across rare diseases.

The Summit gathered key rare disease constituents to explore persistent gaps in diagnosis and access to treatment for underserved/underrepresented patient communities, and to align on how to address these inequities. The Summit also served as a kick-off event for a broader partnership between Global Genes and RDDC.

The partnership currently is focused on rolling out two initiatives. The Know Your Family History Initiative​ is an 18-month, multi-channel patient education, engagement, and mobilization initiative, building awareness around the importance of knowing and documenting your family health history, which can be a critical barrier to early and accurate diagnosis and the corresponding access to trials and treatment for rare disease patients from communities of color.

The Open Data Initiative ​will create and establish a large-scale information and data gathering effort to help identify and elucidate the unique experiences, challenges, and outcomes of rare disease patients from communities of color in diagnosis, care, and treatment, generating insights, setting metrics and tracking improvements and trends over time.

OSP: Could you please share why you decided to create the Rare Disease Equity, Diversity, and Inclusion report?

Craig Martin, CEO, Global Genes

CM: Shining a light on what we know, and don’t know, about the experiences of rare disease patients from diverse and underserved populations builds a foundation for action. If we can have open, transparent, and (where possible) data-driven conversations that help us pinpoint and prioritize gaps, needs, and interventions, then we can mobilize the entire community to get behind solutions.

The 2022 Rare Disease Equity, Diversity, and Inclusion Report: Turning Words Into Action​ is an important step in that process. The report provides an opportunity to reflect on the past year and a framework for future efforts.

OSP: What are some of the key findings shared in the report?

CM: One, COVID-19 helped to illuminate challenges, and magnify disparities that those in the rare disease community face. The speed with which the industry was able to adapt to telehealth, new trial methods, faster research, and drug development, proves that we can make more impactful moves when it comes to those in the RARE disease community. 

Also, there is a deep need for educational materials that are accessible and digestible for rare disease patients because too often patients are left to do their own research, while also fighting to advocate for themselves throughout an exhausting diagnostic odyssey.  When we connect patients to each other and provide accessible educational materials and programs, it helps to cut down the time to diagnosis and get treatments to patients faster.

Then, we also need to provide more resources to healthcare professionals, including exposure to the experiences of rare disease patients and families, expanding their training, building empathy, and extending their ability to recognize characteristics of rare diseases.

The report also includes insights gleaned from other Global Genes programs and partnerships, such as:

  • Health Equity RARE Patient Impact Grants,​ awarded to 10 rare disease patient organizations to expand their research, resource development, outreach, education, and awareness efforts supporting cultural competency
  • Financial Advocacy RARE Patient Impact Grants​, provided to rare disease patient organizations to promote financial advocacy among rare disease organizations and the people they serve
  • The RARE Compassion Program,​ an initiative that connects medical students with individuals and families with rare diseases to help foster meaningful doctor-patient relationships, inspire careers in rare disease care and research, and ultimately, through patient-centric listening and interactions, build the next generation of future medical professionals as key advocates for their patients.

OSP: What insights might the report offer for pharma companies and their research partners about rare-disease treatment R&D?

CM: While some progress has been made over the last year, there is still a lot of work to be done, and we need sustained support and investment in these efforts to achieve meaningful impact. R&D focus and effort can quickly shift to larger disease areas, bigger populations, and later-stage assets, which could leave minoritized populations in already underserved rare conditions without hope or options.

We need for the entire community to mobilize around scientific, technological, business, and policy approaches that ensure advancements in diagnosis and treatment are inclusive of all rare disease patients.  Finally, we must work together as a community to reach out, break down barriers, embrace and include those who’ve been left out and collaborate to ensure other stakeholders do the same.

During Outsourcing-Pharma’s recent Rare and Orphan Diseases webinar, Martin shared a view of the rare disease landscape, along with two other noted industry experts. Register to view the webinar on-demand here​.

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