Marginalized Groups Face Added Barriers to Rare Disease Treatment Access
By Jenifer Ngo Waldrop
Members of marginalized communities struggle to navigate a health system plagued with inequities. These communities include not only racial and ethnic minorities but also less-visible groups such as disabled people and LGBTQ+ individuals.
Many members of these marginalized groups also suffer disproportionately from rare diseases -- defined as those that afflict fewer than 200,000 people in the United States.
Diseases can affect different communities differently. Asian Americans, for example, are diagnosed with hepatocellular carcinoma at three times the rate of white Americans. One in 1,800 people of Puerto Rican descent lives with Hermansky-Pudlak syndrome, a skin pigmentation disorder.
There are more than 7,000 rare diseases. The vast majority have no cure.
Researchers have made incredible advances over the past few years. But marginalized groups are right to wonder if they'll benefit from all this promise.
The limited number of patients with each rare condition often gives biotech companies pause, because a successful treatment might not recoup the cost of research and development. In 1983, lawmakers ameliorated this problem by establishing a tax credit to reduce the costs of running a clinical trial for a rare disease drug. Since then, the number of FDA-approved medications for rare diseases has increased by more than 2000%.
Unfortunately, lawmakers undermined the value of these tax credits in two provisions of last year's Inflation Reduction Act.
The first caps reimbursements for drugs that successfully treat multiple rare diseases. Already, at least one biotech company has canceled a late-stage clinical trial that would have tested whether one of its existing rare-disease drugs could also be effective against a second rare condition that causes blindness.
The second imposes a penalty on companies that develop so-called small-molecule drugs -- typically pills we keep in the medicine cabinet, from ibuprofen to antibiotics. The IRA subjects this class of medicines to price negotiations four years earlier than "biologic" drugs.
Small-molecule drugs are important in rare disease treatment. But the penalty means drug companies might steer research dollars away from this medicine class and towards biologics. But biologics are usually administered in a clinical setting, so it's more difficult for vulnerable groups to access them.
These two provisions threaten to rob millions of rare-disease patients of future breakthroughs.
What little federal funding goes toward rare-disease research often flows to conditions that primarily affect white Americans. For example, compare cystic fibrosis (CF), a lung disease with an outsized impact on white Americans, with sickle cell disease (SCD), which disproportionately affects Black Americans.
The overall number of Americans with SCD is three times higher than the number with CF. Yet a study found that government funding between 2008 and 2017 was nearly $2,000 higher per person for CF.
Even if researchers do have sufficient resources to develop a treatment for a rare disease, patients in marginalized communities face barriers to participating in clinical trials. Americans of color make up roughly 40% of the U.S. population. But estimates suggest they make up just 2% to 16% of patients in clinical trials.
We must unite against policies that disproportionately harm marginalized groups.
Jenifer Ngo Waldrop is the executive director of the Rare Disease Diversity Coalition. This piece was previously published in the Boston Herald.
