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Bringing Health Equity to Rare Disorders

A recent discussion led by a rare disease advocacy group highlighted disparities and potential solutions, including more diversity among genetic counselors.

illustration of a crowd representing various races and ethnicities

Patients with rare diseases who also are people of color may face extra barriers to care. They are less likely to receive early and accurate diagnoses, access to educational and support services, and participate in clinical trials, according to experts at a recent webinar hosted by the National Organization for Rare Disorders (NORD). 

Members of the medical and patient communities discussed the complex problem and initiatives that are underway to achieve health equity for all people with rare diseases. Some solutions are easy fixes, such as harnessing existing telemedicine technology, which would allow many patients to consult virtually with specialists who might practice hundreds of miles away. Other barriers are more difficult to remedy, such as training leaders of nonprofit and patient groups to make diversity a priority in recruiting staff and board members.

Barbara Harrison, a certified genetic counselor at Howard University Hospital in Washington D.C., cited statistics from Genome-Wide Association Studies that show most people enrolled in genetic studies are of northern European descent. A small fraction – only 1%-2% – of students are of African, Asian or Hispanic descent.

She compared government funding for sickle cell disease, which primarily impacts black people, compared to cystic fibrosis. The National Institutes of Health spends four times as money much per patient on CF, Harrison said.

More than 80% of rare diseases have a genetic component, yet there are “not enough counselors, and there’s a lack of diversity in the field,” Harrison said. “Having ready access to genetic counseling can help expedite the diagnostic odyssey.”

Debbie Drell, NORD director of membership and a rare disease patient advocate, is a second-generation Mexican-American. She said her sister saw 12 different doctors in rural Texas before she was diagnosed with pulmonary hypertension.

She pointed to the 2015-2019 clinical trial of a pulse oximeter device as an example of the importance of enrolling people of color in trials. Of the participants, only 14% were Hispanic; 7% were African American and 1% were Native Americans. It wasn’t until the device became widely used in treating COVID-19 patients that healthcare workers discovered the device misread the oxygen levels of people with darker skin.

Drell advocates promoting health literacy so underserved and marginalized patients can make informed decisions. Patient-driven nonprofit organizations are a great place to bring together stakeholders in a humble, respectful and non-confrontational forum, she said.

“Some of it is just teaching patients to bring together their medical records,” she said. “You don’t need to know everything. You need to learn to think about problems.”

Dr. Michael Poku, a primary care physician in Dallas, advocated for bringing PCPs “into the fold” to improve access to clinical trials and novel therapies, because PCPs likely have established relationships of trust with patients that clinicians in trials do not.

He also is an advocate for virtual or hybrid trials at large academic centers which may not be geographically accessible for many patients. “[We should do] anything to break down barriers. We need be to more intentional in bridging those gaps,” he said.