Ensuring diversity, equity, and inclusion in rare disease organizations requires focused programs that engage all stakeholders. A nine-month project just completed by RARE-X found creating campaigns that raise awareness on how to effectively communicate with physicians and patients and partnering with medical schools to increase interest in students specializing in rare diseases were among the findings.
The project was undertaken to provide a general overview of the rare disease landscape regarding DEI issues and offer recommendations to support RARE-X’s efforts to ensure the long-term development of an inclusive rare disease data platform. It involved a literature review, surveys of patients and caregivers, focus groups, and individual interviews with the broader rare disease ecosystem.
“The goal of this was to identify strategies that different organizations can strive to accomplish whatever their timeframe,” said Teneasha Washington, diversity, equity, and inclusion lead for RARE-X and author of the study. “The general consensus around DEI and rare disease at this point is that people are interested, but they don’t know what to do first, or at all.”
A literature search as part of the study suggested that research involving homogenous populations may form inaccurate conclusions. This can include the fact that drug outcomes may not apply to certain populations, insight into differences among minorities may be lacking, and recommendations can be inappropriate.
“There is a great need for people of different races, ethnicities, socioeconomic statuses, and from different areas to be included in clinical trials to understand better the barriers they face in diagnosing and treating rare diseases,” the report said. “A lack of diversity among participants in clinical trials and healthcare providers adds additional layers of difficulty in diagnosing rare diseases.”
Some 86 percent of the respondents to the patient survey were female, 63 percent white, and 46 had a master’s degree, professional degree, or Ph.D. A majority (75 percent) believed more diversity was needed in rare disease advocacy. Washington believed the survey reflected the most active people in patient advocacy today.
Asked why they thought there was a lack of diversity in rare disease advocacy, 90 percent attributed it to limited knowledge of rare diseases, 62 percent blamed a lack of educational resources, and 51 said lack of access to medical care.
Regarding steps advocacy organizations should take to address the situations, 80 percent said they should conduct awareness campaigns, 62 percent believed they should conduct engagement programs, 61 percent said they should improve resources in underserved communities, and 54 percent said they should provide materials in different languages.
A separate survey to the broader rare disease stakeholders (including healthcare professionals, researchers, teachers, patient advocacy group representatives, industry, government agencies, and others) listed the reasons for lack of diversity as cultural barriers (75 percent), lack of access to medical care (67 percent), lack of educational resources (58 percent), and lack of trust (50 percent).
Washington said one interesting difference between the two survey cohorts was that patient advocates emphasized the need for education while the broader set of stakeholders was more focused on the need for obtaining data from a more diverse group of patients to improve the understanding of rare diseases.
Several themes emerged from the focus group, and individual interviews with rare disease stakeholders turned to concerns including challenges rare disease patients face, the need for education about rare diseases, and reducing the burden of participating in rare disease registries for patients and caregivers. In some cases, these touched on DEI issues, such as concerns about women’s difficulties getting a rare disease diagnosis because of gender biases.
Concerns focused on DEI-specific issues including access to specialized medical care in lower-income communities, the need for more diverse data in patient registries, making registries available in multiple languages, and addressing inequities in access to medical care.
DEI issues became a focus around questions of rare disease research. Participants talked about – the need for more diverse data and the need for having rare disease experts who have a broad and diverse perspective of culture and experience.
Others touched on barriers to participating in clinical trials for many rare disease patients and socioeconomic barriers that may prevent greater participation from underrepresented groups who simply may not have the time to participate. At the same time, others pointed to clinical trials recruitment and the need for sponsors and investigators to make sure their inclusion criterion emphasizes diversity.
Finally, participants discussed the importance of trust and how a lack of trust prevents people from participating in research studies. People who raised this issue pointed to historic research abuses and a general lack of trust in the Black community when dealing with medical information, and the feeling that physicians don’t listen to them.
The report highlights an extensive list of recommendations, including the creation of various resource guides, educational resources for patients on healthcare and technology (accessing medical records, using telehealth, genetic testing, clinical trials, health literacy), providing a checklist to physicians on the referral process for patients with rare diseases (genetic testing, registries, natural history studies), and providing training to physicians on mistrust in healthcare for minorities.
Washington said RARE-X is continuing to engage its DEI advisory council and will continue to do so through the year. She said RARE-X’s strategic goals are aligned with the report’s recommendations and she hopes to follow up with a report at the end of the year on progress in implementing some of the recommendations.
The full report is featured on the RARE-X website and a pdf copy of the report can be downloaded here.
Additionally, here is a link to a follow-up RARE-Xtra Podcast on the report
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