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Lauren EdgarSpecial Report by:
Dr. Lauren Edgar, DNP, RN, MSN-Ed., FNP
Associate Director of Clinical Affairs and Education, Amyloidosis Research Consortium


The 2nd Annual Global Genoese Rare Health Equity Summit in partnership with the Rare Disease Diversity Coalition took place November 9-11, 2022 in Atlanta, Georgia.

“Of all the forms of inequality, injustice in health is the most shocking and inhumane.”
— Martin Luther King Jr

Calls to our patient phone line at ARC range from asking where the closest amyloidosis treatment facility is, to requests for a local amyloidosis specialist, to callers interested in support groups in their neighborhood. Individual access to nutritious food, improvements to health literacy related to amyloidosis, and other fundamental needs are critical to patient participation in achieving optimum health. Barriers to these resources become a source of stress for people who require frequent and necessary encounters with healthcare providers. This is especially so for those with a rare disease. Limited attention, or limited resources, and overcoming challenges with navigating the healthcare system can be frustrating. It is important to note that not everyone requires the same type of support. Health equity means all people (individuals, groups, and communities) have a fair chance to reach their full health potential and are not disadvantaged by social, economic, and environmental conditions.

Snapshots inside Snapshots from inside the National Center for Civil and Human Rights
Snapshots from inside the National Center for Civil and Human Rights

What is Health Equity and Why is it a Problem?

All areas, particularly healthcare services related to uncommon diseases, have room for improvement. I have always considered it a great honor to have the chance to contribute to the field of rare diseases as a health care clinician, so when I was graciously given the chance to attend the Global Genes Health Equity Summit, I was eager to learn more about how my colleagues at ARC and I can contribute to the field of amyloidosis advocacy. From November 9 – 11, 2022, leaders from across the nation met to discuss issues like inequities and inclusiveness, stakeholder communication, bias, and impediments to genetic testing.

Leading experts who are committed to enhancing patient survival and quality of life for patients with rare diseases, as well as early career faculty, nursing professionals, patient organizations, and industry, were among the guests. This was the second meeting that professionals in the field of amyloidosis from around the world attended. The mission of Global Genes is to alleviate the suffering brought on by rare diseases for patients and families everywhere. They recognize that the best way to carry out this goal is by empowering, enabling, and connecting individual patients, caregivers, and recently formed and long-established patient communities to advance the treatment of both rare diseases and more prevalent rare diseases.

A panel of speakers from the 2022 RARE Health Equity Summit
A panel of speakers from the 2022 RARE Health Equity Summit

The Problems Blocking Health Equity

The summit started with a discussion of what health equality is and the areas where there are now discrepancies, including but not limited to levels of access and involvement in studies for rare diseases and medical products. Richardae Araojo, Associate Commissioner for Minority Health, and Dr. Retzky, Director of the FDA’s Office of Orphan Product Development, increased efforts to emphasize health equity efforts and advance the development of medicinal products for rare diseases. The president and CEO of Taysha Gene Therapies, Dr. Eric Dube, and Dr. Retzky then gave a presentation on health equity issues, focusing on how disparities and specific inclusivity issues might manifest themselves differently across different communities with rare diseases.

After a brief intermission, a panel of experts delivered a debate in which they acknowledged that genetic testing is a crucial component of diagnosis but elaborated on the fact that not all communities affected by rare disease have access to genetic tests. Dr. Barbara Harrison, a genetic counselor and assistant professor at Howard University, and Dr. Zhanzhi Hu, along with two other esteemed colleagues from Global Genes and the National Human Genome Research Institute, participated in a panel discussing how to overcome barriers to genetic testing such as limited access, biased genetic testing in favor of people of European ancestry, mistrust, and high cost. The next group of panelists emphasized the lack of official medical curriculum and clinical training settings. Leah Peer, the founder of the Peer Med Foundation, Dr. Gambello from the Department of Human Genetics at Emory University School of Medicine, Danielle Petilli and Yasmin Halim, as well as other renowned patient advocates highlighted the importance of patients’ knowledge of their bodies in achieving optimal results through collaboration and partnership between patient and provider. Mar Rehman, a medical student and panelist, emphasized the significance of practicing physicians and medical students embracing the unknown without worrying about losing the faith of their patients.

Terri Booker, Vice Chair of Sick Cells, Analy Navarro, Founder and President of BA HERO, and two other panelists brought up language highlighted in mission statements of various organizations that speak to being patient-centered and patient-focused and the need to unpack how that manifests an organization’s daily efforts and work streams in the third group of panelists. Together with Sarita Edwards, CEO and President of the E. WE Foundation, Jon Rodis, a national disability and medical advocate for rare disorders, highlighted how their organization works to include the patient’s voice and show empathy for the challenges patients face when engaging with researchers. The E. WE Foundation, a patient advocacy organization supports those affected by affected by Edwards Syndrome, commonly known as Trisomy 18, shows empathy in many ways, including providing advice and insight on urgent policy initiatives. They have also established a health literacy program to enhance a patient’s ability to make informed, self-appropriate health decisions. Cultural barriers and limited access, particularly about diagnosis and treatment and another layer of difficulty to international care. Leaders in the field of rare diseases from Ghana, Canada, Colombia, and Brazil discussed ideas and future actions for improving support for and access to healthcare globally.

What Solutions Work for These Problems

Addressing issues that contribute to a reduction in health literacy related to rare diseases is one of the Global Genes’ key lessons. This involves improving provider awareness while being sympathetic to concern around lack of knowledge (or perceived lack of knowledge) of uncommon diseases. It is possible to reduce overly transactional partnerships between doctors and patients by urging physicians to embrace a partnership with their patients.

Trust between patients and the healthcare sector and embracing translational prospects are major themes in approaches to patient readiness. Organizations directly interacting with patients like those that carry out genetic testing or clinicians taking part in clinical trials, should make a concerted effort to develop trust with participants by being open with their data and going out of their way to accommodate participants’ needs in terms of resources and health literacy. Organizations that are already considering when resources are required to increase utilization or those that participate in services like clinical trials or treatment have a leg up in providing these accommodations, as well as meeting patient partners where they are with regard to limitations like transportation-related costs.

The Future in Fostering Health Equity at ARC

I am proud of the work we have done at ARC in supplying educational resources like our patient booklets to patients as we work to alleviate gaps in health literacy and give patients a foothold on their treatments. After the Health Equity Summit, however, I pondered how we as an organization could continue meeting the needs of patients and their families as needs increase and costs impact those trying to manage the odyssey that comes with diagnosis and care management of a multi-system disease. Not all resources are distributed equally among people worldwide or at home. We at ARC can continue to assess how we interact with and make room for patient participation within our organization. These lessons can and should stand as major takeaways from the Global Genes Rare Health Equity Summit that we will begin to embrace. Examining how our resources might be used in more places is one opportunity to increase outreach and address health literacy connected to amyloidosis.

The Amyloidosis Research Consortium can, and plans to, continue providing master classes with the goal of increasing students’ knowledge, comprehension, and ability to use information and research on the early detection and management of amyloidosis. We at ARC remain committed to evaluating the current technologies available to aid doctors in the diagnosis and management of amyloidosis-related care. In order to guarantee that our resources are and continue to be useful and informative, we also remain open to and encourage stakeholder feedback.

For more information about the 2022 RARE Health Equity Summit Partners in Action: