I was diagnosed with hypermobile Ehlers-Danlos Syndrome (hEDS) at age 22 – sixteen years after symptom onset. My story is neither unique nor particularly terrible: The average time to diagnosis for hEDS is 10-14 years, but people of color with EDS and other rare conditions fare far worse. With diagnostic delays due to medical bias, under-educated providers, white supremacy in medical education, and lack of diversity in clinical research, people of color may not be diagnosed until they have a serious medical crisis. With the reversal of affirmative action, underdiagnosis and misdiagnosis will only increase in Black, Indigenous, and other patients of color with rare diseases.
Rare isn’t rare
Many people assume that rare diseases as a whole are uncommon, as each condition affects fewer than 200,000 Americans. In reality, 1 in 10 Americans have one or more of the estimated 7000 rare diseases – over 30 million people. The diagnostic odyssey for rare diseases, or the time between symptom onset and diagnosis, can last years or even decades. The length of the diagnostic odyssey is even longer for nonwhite patients, particularly women of color. Compared to their white counterparts, the average time to diagnosis for patients of color is much longer than the overall 5-year average, leaving them untreated for much of their lives. Patients suffer from poorer health and quality of life without proper diagnosis and treatment. Many become depressed, lose savings on emergency care, and experience negative health impacts from unnecessary or dangerous treatments.
Widespread underdiagnosis is even more pressing as the ongoing COVID-19 pandemic heightens existing racial health disparities. Limiting transmission in medical settings is critical to addressing disparities like higher COVID-19-related morbidity and mortality in patients of color with rare disease. Further, disabling BIPOC practitioners out of medicine will decrease workforce diversity, hurting patients in the long run.
Less Academic Diversity Means Poorer Care and Diagnosis for Rare Disease Patients of Color
We know that physician diversity improves patient outcomes, whereas a lack of diversity harms patients. Research has shown underrepresentation of Black and Brown medical professionals augments mistrust in patients with traumatic experiences with medical racism.
We know that the Supreme Court’s decision to strike down affirmative action will significantly reduce the acceptance of students of color in medical school.
It is already happening:
A 2018 study comparing enrollment rates over time for public medical schools in states with and without affirmative action bans unequivocally found a significant reduction in underrepresented enrollees. The decision’s impacts will go beyond education and workforce diversity: Racial discrimination, biased medical education, and culturally incongruent care will harm or kill patients.
Given that half of white med students hold racist beliefs about Black patients, provider bias prevents consideration of rare diseases typically not associated with the patient’s racial or ethnic background, leading to disproportionate disease burden. When patients do get to a specialist, limited family medical histories can slow or prevent a diagnosis.
My own family medical history is limited due to a Jewish background marked with displacement. Patients of color are even more likely to have incomplete family medical histories due to medical racism or lost entirely to historical displacement. Geneticists may be less likely to order appropriate testing due to bias. We know around 80 percent of rare diseases are genetic and up to 90 percent of licensed genetics counselors are white. That spells trouble for rare disease patients of color, who often need culturally congruent care for an accurate diagnosis.
“Race-neutral” admissions will maintain this overwhelmingly white field; clinicians will continue to ignore racial differences in family medical history, posing yet another barrier to diagnosis. Similarly, decreased researcher diversity will also compound distrust of clinical research, which in turn will prevent diversification of clinical trials and further limit diagnosis of rare conditions.
In its recent rulings, the Supreme Court eliminated race-conscious college admissions, an upset of precedent for the Equal Protection Clause. The decision will have disastrous consequences on the medical field for everyone.
What is to be done?
In the wake of SCOTUS overturning affirmative action, universities and healthcare employers must redouble efforts to diversify the medical workforce. We know for a fact that a diverse medical workforce saves lives, and pervasive medical racism harms countless patients of color. Cultivating health equity requires diversifying medicine with anti-racist policy – especially for rare disease patients.
Many organizations have constructed a path to diversified, anti-racist healthcare. Notably, the Rare Disease Diversity Coalition laid out a roadmap to address racial disparities in rare disease research, diagnosis, and treatment. Their recommendations emphasize tackling racial bias in medical education through curriculum along with diversifying medical faculty and students. The National Partnership’s Raising the Bar employer report offers more specific recommendations for employers to diversify their workforce. Suggestions involve setting expectations for workplace diversity and mitigating financial barriers to health careers. While the report is written with the maternal health workforce in mind, its recommendations can be applied across specialties, as well as to medical and pre-medical education.
The end of affirmative action race-conscious admissions threatens the lives of rare disease patients of color. Healthcare institutions have a duty to ensure that medical education, clinical practice, and research are racially diverse.
Beyond policy, providers must challenge internal racial biases and remember that rare isn’t rare.
