On December 9, 2021, the National Organization for Rare Disorders (NORD) hosted a webinar program titled “Health Equity and Rare Disorders.” This webinar was the first of a three-part series that has been developed in partnership with the Rare Disease Diversity Coalition (RDDC). Several speakers shared their perspectives on the issues of health equity as part of the program. These speakers included:

• Michael Poku, MD, MBA, Senior Medical Director, Oak Street Health
• Barbara Harrison, MS, Certified Genetic Counselor, Howard University
• Debbie Drell, Director of Membership, NORD

Dr. Georges Benjamin, Executive Director of the American Public Health Association, served as moderator and introduced the speakers. He also laid out several factors that contribute to health inequities:

1. Social determinants of health (differences in patients’ surroundings that can impact how likely and capable they are of seeking care, as well as their health directly)
2. Individual behaviors related to seeking health care.
3. Differences in the ability to access care.
4. Differences in the quality of care that is available to the patient.

Debbie Drell laid out the challenges of health inequity in stark terms. An analysis of clinical trial participants from 2015-2019 found that 76 percent of patients in trials were of European, or white, ancestry. This is not representative of the racial composition of the US, meaning that whites were drastically overrepresented in trials. As a result, other races were underrepresented. This can have dire consequences up to and including the unnecessary deaths of people of color in the medical setting. Devices or medicines simply may not work the same way for all groups, and there’s no way to know without inclusive trials.

Debbie also discussed the concept of health literacy: the ability to make informed decisions about personal health. Unfortunately, there are differences in health literacy among racial groups as well. People of color are less likely to trust the health system; this is the result of the history of systemic discrimination and medical racism in the US. Mistrust isn’t unfounded and is a real barrier to seeing positive change.

Michael touched more upon the disparities in access to health care. This is an issue that is even further exacerbated in the rare disease space, particularly in clinical trials. Unfortunately, as finding patients for trials at all is often supremely difficult for rare diseases, attempting to incorporate racial diversity is often ignored.

COVID has also demonstrated approaches for using technology to deliver care and trials in a virtual format. All of this needs to be made easier for marginalized groups. A lot of research is also focused on large academic centers, which aren’t often near low-income communities.

Barbara says that since over 80 percent of rare diseases have a genetic component, access to genetic services, such as counseling, is a critical part of rare disease care.

This can make the diagnostic process much more rapid and effective, and therefore speed up the beginning of appropriate treatment. Unfortunately, many patients are not aware of these resources. There aren’t that many genetic professionals out there. Diversity is limited as well in terms of professionals, and the impact reverberates in genetic research also. Only a small percentage of the population (in which North European ancestry is overrepresented) is being accounted for in research. 

Disease treatment, testing, and diagnosis are all made much less effective because of the bias that is present. Communities of color and other marginalized groups experience significant distress towards the medical system due to past abuses and mistreatment.

Barbara shared some disturbing statistics in which she compared the resources allocated towards two rare diseases: sickle cell anemia, which mostly affects Black people in the US; and cystic fibrosis, a disorder that mostly affects white people in the US. Over a ten-year period, the National Institutes of Health (NIH) allocated four times more money towards CF even though the patient population is far smaller. This disparity is present among nonprofit groups as well. As a result, far more therapies were found and developed for CF.

In sickle cell, there has been a lot of attention on gene therapy, but in the community, many still need basic care that can treat their symptoms now, not in the future.

Diversity and equity can only succeed with intentionality and considerations about who is involved at every step of the process.