Rare Disease Through the Ethics and Equity Lens

Beneficial rare disease research and treatments must reach all who need them. True progress in rare disease research will mean more access and inclusion in studies and treatment for marginalized groups, leading academic researchers said.
by Rachel Jones, National Press Foundation

The social determinants of health matter. Because most Americans with sickle cell disease are Black or Latinx, their near invisibility in research trials symbolizes the ongoing disparities for most rare disease patients of color, said Treadwell, who co-chairs the Diversity, Equity and Inclusion Council for UCSF Benioff Children’s Hospital. Many live in communities with few or no primary health care facilities. Their neighborhoods and built environments may not be safe. Lack of economic stability and quality education may be a factor. Overall, Treadwell said, life expectancy for sickle cell patients is shorter, and they have the highest 30-day readmission rate following emergency room visits. Finally, the rate of stroke and other complications is higher for sickle cell patients.

Your income determines the type of care you receive. The majority of people with sickle cell disease are enrolled in public insurance programs, which limits their choices about which physicians they can see. In emergency departments, people with public insurance wait longer to see a physician when they’re in pain, compared with other patients. And finally, the number of physicians trained and willing to treat patients with sickle cell disease, especially adult patients, is limited.

Sickle cell disease research gets fewer resources. Compared to a rare disease like cystic fibrosis, sickle cell gets less federal funding, Treadwell said. In the philanthropic sector, the contrast is even greater. Treadwell said the average funding per affected person for people with sickle cell disease is less than $1,000, whereas for cystic fibrosis patients, it’s more than $10,000. “What this does is it really limits discovery,” Treadwell said. “So when you don’t have enough funding, you don’t have enough research on different drugs and you don’t have drugs in the pipeline, and you don’t have access to curative therapies.”

The pain sickle cell patients experience is too often dismissed. A key trait of sickle cell disease is often intense, disabling pain. Treadwell said those complications are different from all almost all other pain syndromes. Because the pain onset is in infancy, patients can be exposed to opioids from a very early age. But Treadwell says providers overestimate the risk of addiction for patients with sickle cell disease compared with other chronic pain syndromes. And patients and families consistently report that doctors don’t believe they’re in pain, or that they’re otherwise mistreated.

Rare diseases aren’t tracked adequately. The International Classification of Diseases (ICD-10) has codes for only about 500 rare diseases, said Halley, a senior researcher with the Center for Biomedical Ethics at Stanford University. That means thousands of others are not listed. There’s been a huge push to get more rare diseases coded in the ICD-11, but the process is slow. Halley said that without a system for prioritizing and understanding rare diseases as a group, patients and families are most often the catalysts that drive research. “You would never imagine turning to a parent or child with cancer and saying, ‘Your child has cancer, I’m so sorry,” Halley said. “All you need to do is to get treatment is create a foundation, raise a few million dollars, find some scientists, organize with the FDA, and maybe in a few years you’ll have a treatment.’

Newborn screening isn’t a panacea for the non-wealthy. Halley concedes that screening newborns for rare disease is a positive step but believes it should not be promoted as a solution to health disparities. It matters who’s leading and shaping those programs, and participation in that process requires high-level connections that most families don’t have. Also, individual states adopt and fund screening programs differently, depending on their budgets. Patients and communities with lower overall incomes tend to live in states with smaller budgets, which means it takes longer to launch screening programs. Also, non-white populations have a higher rate of false negative screening results, which is likely related to their lack of baseline data in genomic research banks, Halley said.

Speakers: Marsha Treadwell, Director, Northern California Network of Care for Sickle Cell Disease; Co-Chair, Diversity, Equity and Inclusion Council, UCSF Benioff Children’s Hospitals

Meghan Halley, Senior Research Scholar, the Center for Biomedical Ethics, Stanford University

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