People of Color

Diversity Elusive in Rare Disease Research

Black Women’s Health Imperative

National Press Foundation - Program Date: Sept. 14, 202

"African Americans and Latinos die disproportionately from rare diseases. Blacks have higher death rates

than whites for 12 of the 15 leading causes of death in the United States, and almost are rare diseases, said

Linda Goler Blount, president of the Black Women’s Health Imperative, a nonprofit that focuses on

health equity in rare diseases."

"Discrimination itself is now believed to cause negative health outcomes."

"Black and brown people are not asked to participate in clinical trials as often as other patients,

and this skews research. “Providers don’t ask because they make assumptions about what their patients

will and will not do,” Blount said. “Because of these assumptions, many people of color are never offered

the opportunity to participate, and those who do want to still face barriers." 1

Health Equity and Rare Disease

Rare Disease Diversity Coalition (RDDC)

It can take an average of 5 years to get a diagnosis of a rare disease, even longer for people of color.

People of color are less represented in research studies, leading to a lack of understanding about effective treatments. Despite making up more than 38% of the U.S. population, people of color comprise only 16% of research study participants.

Delays in diagnosis and treatment can result in serious disease progression. Studies already show that health outcomes are strongly tied to social determinants of health. For the non-white population (people of color) with a deep-rooted mistrust of the medical establishment or the lack the time or insurance for doctor visits, diagnosis may be delayed even further.

Many patients are misdiagnosed multiple times before getting an accurate diagnosis. Moreover, not being able to share previous family history of a rare disease or results of genetic testing often contributes even further to delays in diagnosis and treatment. 2

Challenges to Diversity in Rare Diseases

Rare Disease patients from underserved communities may be at increased risk for certain rare diseases due to things like founders affect or ethnic prevalence in certain diseases. Likewise, due to unconscious bias, patients may face situations where symptoms are misinterpreted or misunderstood for perceived ethnically prevalent health conditions.

According to the FDA Drug Snapshot: Despite Black Americans being twice as likely to develop prostate cancer,

only 3% of prostate-cancer clinical trial participants were Black.

Almost two-thirds of Drug Trials prior to 2018 didn’t feature any Native Americans or Alaska Natives participants.

Asian-Americans only represented 1.7% of the clinical trial patient population for at least 70% of total drugs tested. 3

Racial Inequities Persist in Health Care Despite

Expanded Insurance

A series of studies in an influential medical journal takes a

close look at longstanding gaps in medical care.

By Roni Caryn Rabin

Published Aug. 17, 2021Updated Aug. 29, 2021

“The topics of racial and ethnic disparities and inequities in medicine and health care are of critical importance,” Dr. Phil B. Fontanarosa, interim editor in chief of JAMA, said in a statement. He noted that more than 850 articles on racial and ethnic disparities and inequities have been published in JAMA and associated journals in the past five years.

The new issue offers studies on disparities in the utilization of health care services and in overall health spending. Together, the findings paint a portrait of a nation still plagued by medical haves and have-nots whose ability to benefit from scientific advances varies by race and ethnicity, despite the fact that the A.C.A. greatly expanded insurance. 4

1 https://nationalpress.org/topic/diversity-elusive-in-rare-disease-research/

2 RDDC_Fact-Sheet_Feb-2023.pdf (squarespace.com)

Rare Disease Diversity Coalition (RDDC) (rarediseasediversity.org)

3 https://everylifefoundation.org/rare-advocates/rare-diversity-hub/disparities-in-public-health/

4 https://www.nytimes.com/2021/08/17/health/racial-disparities-health-care.html