Coalition of healthcare organizations, experts push forward to improve equity in rare diseases

In light of recent industry efforts around equity in rare diseases and on the heels of Rare Disease Day, Fierce Healthcare spoke to stakeholders about the most actionable solutions to combating inequities. 

Equity as a baseline

An estimated 30 million Americans have a rare disease. By some approximations, it can take an average of five years and consultations with more than seven clinicians to reach an accurate diagnosis for a rare disease. Additionally, only 10% of rare diseases have a treatment approved by the Food and Drug Administration.

For minorities with a rare disease, these challenges are compounded.

The Rare Disease Diversity Coalition was founded in 2020 by the Black Women’s Health Imperative (BWHI), Global Genes and Travere Therapeutics. Its stated goal is to be an advocate for rare disease patients of color and the persisting challenges they face through evidence-based solutions. It is divided into five key areas, each of which has a workgroup: clinical trials, delay in diagnosis, provider engagement, patient engagement and policy. 

BWHI, which leads the coalition, had been talking about addressing equity in rare diseases before the pandemic, but when COVID-19 hit, “it just became even more reason why we needed to address it,” said Tammy Boyd, the organization’s chief policy officer and senior counsel. Global Genes, too, was trying to look at diversity and equity “not as a distinct project, but rather as something that’s embedded in the initiatives that we have in place,” said CEO Craig Martin. 

“We knew we had to do our part to understand and help address some of the unique challenges these patients face,” echoed Eve Dryer, Travere’s vice president of patient advocacy.

The Rare Disease Diversity Coalition is partnering with Global Genes not only on the RARE Health Equity Summit, which took place for the first time in Philadelphia in the fall of 2021, but also on a data and evidence inclusiveness initiative that aims to recognize the challenges that face rare disease patients of color, set metrics and track trends and progress over time. The partners have also launched a "Know Your Family History" initiative, an 18-month long education campaign about the importance of understanding genetics and the role they play in rare diseases.

The coming year’s summit will be in Atlanta. The groups plan for the health equity summit to move around the country each year to enable geographically diverse attendance, Martin said.

“The opportunity to be regularly collaborating is really critical,” Martin said. “We can’t afford to be going off in a direction that is ill-informed.” The coalition continues to expand, with about 180 groups currently involved, Boyd said.

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Disparities in rare diseases include differing hospitalizations, time to diagnosis, mortality and pain, according to Global Genes’ latest health equity report.

People in the medical or research communities may assume genetics are the reason for racial disparities existent in rare diseases, but systemic factors play a major role, the report noted. Considering these external factors is critical to making progress on disparities, as is including people of color in more studies and clinical trials of rare diseases. Another important way of supporting patients living with rare diseases is helping them navigate the complex financial system associated with costs of care.

Bias in the health system

Apart from physical barriers to care that many patients, particularly in rural communities, experience, there exist cultural barriers. It’s common for an Alaskan native patient to ask their clinician where they are from, Global Genes noted in its report on equity. While this type of personal question may seem off-putting, these patients see it as a way of building trust. In the Latinx community, meanwhile, particularly among those who are undocumented, patients may believe that their family grandmother is the source of medical insight. 

To nurture cultural understanding, medical schools must commit to training students on the benefits of telehealth, which many patients prefer, as well as on cultural sensitivity, the report noted. Through the Global Genes RARE Compassion Program, medical students are paired with a rare disease patient or family to foster a relationship, inspire commitment to the rare disease field and build the next generation of clinicians as advocates for their patients.

“My advice to other healthcare organizations is to take the time to listen to your patients and their families,” Dryer said. “Understand the unique challenges and barriers they face, identify where you can potentially make a difference and start. 

Engaging the community

Local partnerships are critical to reaching communities and boosting health outcomes. In its report, Global Genes offers the example of getting a local barber involved in a multidisciplinary team designing a study focused on lung cancer. “This barber became what he called a citizen scientist,” the report quoted one expert as saying. “This was somebody who had daily contact with the community and was able to talk to them about clinical research in general, tell them about this trial, and encourage them to learn more. There’s lots of opportunities to build trust in a community, not just in the medical setting, but beyond as well.”

These sorts of collaborations also have the potential to address social determinants of health, which play a major role in determining health outcomes. Providers should bear in mind that a patient may not be aware of the resources available to them through these avenues, the report noted. This requires greater visibility into their lives and can be facilitated by careful listening. 

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“Recognize that you won’t be able to do it alone, but you will be surprised at the impact you can have and the people that will come together to support you along the way,” Dryer said.

To make progress in diagnosis and treatment, data are critical, Global Genes noted in its recent Next 2022 report. For a newly discovered disease to get recognized in an existing database of rare diseases, research for it needs to be funded. And recognition of that disease will make it more likely to be diagnosed, which will mean more data on patients with the condition.

Those data can then fuel research and development. While it can be difficult for biotech companies to access patient data, that can be more easily done through advocacy groups, which are in direct contact with patients. Inadvertently, patients become a part of the drug development process, rallying for research and collecting and sharing their data.

Martin is optimistic about biotech developments like gene therapy and gene editing for rare diseases. He emphasized that the number of people globally affected by rare disease is close to the number of people globally that have been infected with the coronavirus, “but, I think because rare diseases are looked at individually as quite small, sometimes people don’t see the collective impact,” Martin said. “And it’s pretty enormous when you step back and look at it.”