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Racial Disparities in the Rare Disease Community

Racial Disparities in the Rare Disease Community

Rare Disease Review
Policy

Social Determinants of Health

When it comes to health outcomes, obtaining medical care, or receiving proper diagnoses, social determinants of health (SDH) can mean the difference between life and death. The World Health Organization defines SDH as non-medical factors that people live with on a daily basis and external forces that shape one’s life.1 This broad range of factors includes income, employment and job security, education level, disability, gender identity, and race, among many others.

Historically, racial minorities have been subject to biases in the healthcare system that have contributed to inequitable health outcomes. For instance, Black Canadians experience health and social inequities linked to discrimination at individual and institutional scales. Interpersonal racism can be overt (e.g., harassment, violent attacks), or subtle and pervasive (e.g., daily indignities, microaggressions). Institutional discrimination may include racial profiling, over-policing, systemic discrimination and under-treatment in hospitals, and low representation in leadership positions.2 The impact of these experiences throughout a lifetime can lead to chronic stress and trauma, which have negative effects on mental and physical health. However, minorities living with rare diseases face a unique set of barriers to receiving quality healthcare stemming from the intersection of their lived experiences. These individuals face extraordinary challenges such as misdiagnoses and lack of adequate treatments due to limited research about their illnesses, which can be compounded by their status as a minority.

Ethnic and racial minorities may also experience higher incidence and prevalence rates of rare diseases due to genetic differences. For example, African Americans are disproportionately affected by hereditary ATTR (hATTR) amyloidosis, a rare, progressive disease caused by misfolded protein deposits that damage various organ systems.3,4 It is difficult to diagnose because its symptoms (e.g., numbness, dizziness, fainting) are similar to those of common conditions such as diabetes and hypertension.5 These issues further complicate the challenges faced by African Americans and other minorities living with hATTR amyloidosis in receiving quality care. Indeed, minorities and underserved populations are likely to experience greater barriers to the screening, diagnosis, and treatment of rare diseases than for common conditions due to a combination of cultural, socioeconomic, and environmental factors.6 Hence, as health disparities become more apparent, policy changes need to address the unique set of challenges faced by minority populations living with rare diseases.

Considering Rare Disease Populations as a Minority in American Policy

A 2011 analysis published in the Policy, Politics, & Nursing Practice Journal examined federal legislation in the United States on whether they prioritized solutions to health disparities in the rare disease community. This review looked at the Health Disparity Act of 2000 for its potential relevance to rare diseases. The Act defines a health disparity population by the significant inequalities in disease morbidity, mortality, or survival rates they experience compared to the general population. The author proposed that rare disease populations should be considered within the scope of policy implementation for health disparities, as people with rare diseases need to overcome barriers to receiving quality care, including limited access to curative care, symptom management, or adequate drug treatment.7 This has led to a disproportionate mortality burden on the rare disease population, which is even more evident in minorities within the rare disease community. For instance, epidemiological studies have shown that due to genetic differences and psychosocial stressors, there are significant disparities in disease development, symptom severity, and death rates of systemic lupus erythematosus among Black subjects compared to the general population.6,8

Ideally, newer revisions to federal legislation should acknowledge the intersection of health disparities encountered by individuals with rare diseases and minority communities.

Canada’s Rare Disease Strategy

This issue also needs to be further addressed in Canada’s current rare disease policies. In 2015, the Canadian Organization for Rare Disorders developed the Rare Disease Strategy in collaboration with government representatives, researchers, patient organizations, and policy experts. It identified five key areas in which support is most needed: improving diagnosis, supporting research, providing for expert care, community support, and access to therapies. 9 The next year, this national model formed the basis of Ontario’s Rare Disease Strategy. The Ontario Ministry of Health established the Rare Disease Working Group, comprising various stakeholders that included health care professionals and patient advocates. Recommendations from the Working Group led to the creation of the Ontario Rare Disease Strategy Implementation Plan. The Working Group’s plan outlined three recommendations, one of which was to ensure that existing diagnostic services provided are needs-based and designed to be inclusive and comprehensive to support equity in service provision to people living with rare diseases.10 While this framework is an excellent step towards prioritizing the needs of individuals with rare diseases, future amendments could address the needs and barriers encountered by minorities in the rare disease community to further emphasize equity in healthcare access.

Advocacy Efforts and Initiatives

Although there is still progress to be made in regards to national policy, there are several initiatives advocating for change among minorities with rare diseases. These campaigns and research initiatives represent major strides towards inciting systemic change and equity in the healthcare system.

The “Black Women’s Health Imperative” is a non-profit organization founded to advocate for health equity and empowerment among Black women and girls. In 2020, they launched the “Rare Disease Diversity Coalition” (RDDC), which is focused on reducing racial disparities in the rare disease community. The RDDC’s steering committee brings together rare disease experts, diversity advocates, and industry leaders to identify and advance evidence-based solutions that alleviate the disproportionate burden of rare diseases on minorities.11 The coalition is sponsored by Travere Therapeutics, a pharmaceutical company seeking to develop transformative therapies for people living with rare diseases. Currently, the RDDC plans to recruit more members and gather additional support from the healthcare sector, pharmaceutical industries, and the general public.12

“Silent Genomes” is a project led by the BC Children’s Hospital Research Institute aiming to address the inequities faced by the Indigenous Peoples of Canada, who encounter unique barriers to health care and typically have poorer health outcomes compared to non-Indigenous groups. This project was launched on the basis of the limited access to leading-edge genomic technologies among Indigenous populations and their underrepresentation in genome-wide association studies.11,13 Over time, this issue has widened the “genomic divide” in Canada due to the lack of background genetic variation data from Indigenous communities. Silent Genomes aims to address this genomic divide by ensuring Indigenous-led governance over their biological samples and health data so that barriers to accessing accurate diagnoses of genetic and rare diseases can be reduced.13

In addition to genomic studies, minorities are also consistently underrepresented in research and clinical trials, leading to a lack of understanding about the genetics of diverse populations and effective therapies, which are critical to early diagnosis and treatment.11 To address this disparity, the “All of Us Research Program” was announced in 2015 in the United States and is currently being administered by the National Institute of Health in collaboration with hospitals, academic institutions, and healthcare professionals. The goal of the program is to collect health and genetic information from at least one million volunteers for the advancement of rare disease and precision medicine research. The recruitment process emphasizes the consideration of diverse individuals in this program, accounting for various SDH stemming from racial, ethnic, geographic, and economic factors that could influence health outcomes.14

Lastly, in an effort to encourage a more inclusive culture in Canada’s research enterprise, the Canadian Institutes of Health Research (CIHR), the Natural Sciences and Engineering Research Council, and the Social Sciences and Humanities Research Council issued a “Tri-Agency Statement on Equity, Diversity and Inclusion” in 2019. The aim of this strategy is to promote the integration of equity, diversity and inclusion (EDI)-related considerations in research design and practices.15 The CHIR is requiring researchers to disclose how they will uphold EDI principles in the study design, methods, analysis, and dissemination of their research. Researchers must ensure that their studies are informed by gender-based analysis plus (GBA+), an analytical process used to examine how differences in identity factors, such as sex, gender, race, ethnicity, and disability, impact research outcomes.16 By promoting rigorous research that considers SDH and identity factors, the hope is that impactful results that are relevant to the diversity of the Canadian population will soon become the norm.


Laura Li

Works Cited

  1. Social determinants of health. Accessed February 27, 2021. https://www.who.int/westernpacific/health-topics/social-determinants-of-health
  2. Public Health Agency of Canada. Social determinants and inequities in health for Black Canadians: a snapshot. Government of Canada. Published September 8, 2020. Accessed February 27, 2021. https://www.canada.ca/en/public-health/services/health-promotion/population-health/what-determines-health/social-determinants-inequities-black-canadians-snapshot.html
  3. AKCEA Therapeutics. Hereditary transthyretin (hATTR) amyloidosis. Published July 29, 2019. Accessed February 28, 2021. http://www.akceatx.ca/our-programs/hereditary-transthyretin-hattr-amyloidosis/
  4. Rare diseases and African Americans. Black Health Matters. Accessed March 1, 2021. https://blackhealthmatters.com/health-conditions-hub/hattr-amyloidosis/rare-diseases-and-african-americans/
  5. Genetic disease more common among African Americans can now be treated. Amyloidosis Foundation. Published December 12, 2019. Accessed March 1, 2021. https://amyloidosis.org/genetic-disease-more-common-among-african-americans-can-now-be-treated/
  6. National Center on Minority Health and Health Disparities. Annual Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health. Genetic and Rare Diseases Information Center. Published January 27, 2005. Accessed March 14, 2021. https://rarediseases.info.nih.gov/asp/html/reports/fy2000/ncmhd.html
  7. Holtzclaw Williams P. Policy framework for rare disease health disparities. Policy Polit Nurs Pract. 2011;12(2):114-118. doi:10.1177/1527154411404243
  8. Drenkard C, Lim SS. Update on lupus epidemiology: advancing health disparities research through the study of minority populations. Current Opinion in Rheumatology. 2019;31(6):689-696. doi:10.1097/BOR.0000000000000646
  9. Wong-Rieger D. Why Canada needs a comprehensive rare disease strategy. Policy Options. Published May 27, 2019. Accessed February 9, 2021. https://policyoptions.irpp.org/magazines/may-2019/why-canada-needs-a-comprehensive-rare-disease-strategy/
  10. Critical Care Services Ontario. Rare Diseases Working Group Report. Published online March 10, 2017. Accessed February 9, 2021. http://www.health.gov.on.ca/en/common/ministry/publications/reports/rare_diseases_2017/rare_diseases_report_2017.pdf
  11. The Rare Disease Diversity Coalition. Rise For Rare. Accessed February 28, 2021. https://www.rarediseasediversity.org
  12. Ray F. Coalition will address racial disparities in rare disease communities. Hemophilia News Today. Published June 10, 2020. Accessed February 9, 2021. https://hemophilianewstoday.com/2020/06/10/black-womens-health-imperative-creates-rare-disease-diversity-coalition-to-tackle-racial-disparities/
  13. Silent Genomes Project. BC Children’s Hospital Research Institute. Accessed February 9, 2021. https://bcchr.ca/silent-genomes-project
  14. Alawi F. Accounting for diversity in rare disease research and precision medicine. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 2020;129(3):175-176. doi:10.1016/j.oooo.2019.11.016
  15. Canadian Institutes of Health Research. Equity, diversity and inclusion in the research system. Government of Canada. Published February 10, 2017. Accessed March 14, 2021. https://cihr-irsc.gc.ca/e/50068.html
  16. New Frontiers in Research Fund. Best Practices in Equity, Diversity and Inclusion in Research. Government of Canada. Published December 17, 2020. Accessed March 14, 2021. https://www.sshrc-crsh.gc.ca/funding-financement/nfrf-fnfr/edi-eng.aspx

Cite This Article:

Li L., Wong V., and Chau J. Racial Disparities in the Rare Disease Community. Illustrated by Z. Hasan. Rare Disease Review. March 2022. DOI: 10.13140/RG.2.2.13604.55688

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