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Approximately 1 in 10 Americans is affected by a rare disease. An estimated 80% of these conditions have known genetic origins, underscoring the critical need for access to genomic testing (1). Adding to the burden on patients, diagnostic odyssey — the time from symptom onset to diagnosis — can take more than 6 years and 17 medical interventions, on average (2). Diagnosis is not only a critical step in connecting patients with appropriate treatments, such as cell and gene therapies, but also provides a sense of purpose and community for those affected (3).
The NW Rare Disease Coalition supports the Pacific Northwest’s rare disease community by providing educational programming, engaging in direct advocacy, and fostering industry partnerships. The coalition strives to end the diagnostic odyssey, improve access to care, and
accelerate the development of new treatments. Since 2017, the coalition has hosted an annual educational event about the importance of rare disease research. New this year, the Payer Forum was a workshop designed to engage payers in discussions with industry, patients, and legislators around rare disease genetic testing and gene therapy access.
The forum panel discussions featured individuals with rare diseases and parents of children with rare diseases. Panelists highlighted the lengthy and challenging diagnostic journey, which often involves navigating complex healthcare systems and enduring significant financial and emotional strain. The time to diagnosis can be long. For many, the presenting features and symptoms in isolation didn’t prompt a diagnosis; however, features taken together supported genomic testing that revealed a common underlying etiology.
Receiving a diagnosis, even in the absence of treatment, provides a sense of connection and purpose. Rare disease caregivers often assume multiple roles, including healthcare navigators, fundraisers, researchers, and advocates. The financial burden of expert consultations, therapies, and support for daily living is substantial, and obtaining insurance coverage for necessary tests and treatments remains a significant hurdle. Variable coverage policies result
in inequitable access to genetic testing and counseling, which further highlights the need for streamlined and collaborative diagnostic approaches.
At the forum, panelists highlighted several initiatives, like Project Baby Bear (4) and UnitedHealthcare’s Complex Care Concierge (5), that coordinate resources to improve patient access to genomic testing. Payers described how these successes served as a foundation to expand access to genomic testing within their organizations, including examples of expanded coverage for rapid genome sequencing within Blue Shield of California and United Healthcare plans.
Genetic counseling is also a critical component of testing and coordination in rare diseases, yet access is limited by inadequate reimbursement models.
The afternoon session focused on cell and gene therapy access. Perspectives from patients, advocates, and researchers emphasized that cell and gene therapies, while transformative, are not always curative. Panelists discussed the importance of setting realistic therapeutic goals and involving patients in defining success criteria. Many shared stories of therapies providing significant benefits despite not meeting traditional endpoints. This highlights the opportunity for engaging patients and caregivers in the study design process and integrating flexible outcome measures.
Panelists provided an overview of the science behind cell and gene therapies and explored the complexities of creating reimbursement models for high-cost, potentially one-time treatments. The value assessment of cell and gene therapies differs between providers, patients, and insurers, further complicating coverage decisions. Individual’s frequent switching of insurers also affects projections on return on investment, adding another layer of complexity. Panelists discussed the unique challenges in rare diseases, including small patient populations, evidence generation difficulties, failure rates of therapies, and long negotiation timelines for reimbursement.
Some organizations are piloting alternative payment models, such as outcome-based agreements and installment payments, to better allocate resources and ensure equitable access to therapies. Panelists agreed that is critical to make therapies affordable to guarantee that all patients benefit.
In the final session of the event, payer representatives discussed access to genomic testing and cell and gene therapies. They reflected on the challenges of managing high costs, ensuring the effectiveness of tests and treatments, and dealing with fraud and abuse. Payers emphasized the importance of demonstrating the efficacy of tests and treatments to justify coverage.
Reconsidering evidence-generation models to better suit the small patient populations typical of rare diseases, and the need for robust data to support the clinical and economic value of treatments was a key recommendation. Payers also explored the idea of aggregating data across rare conditions to provide meaningful evidence to support access.
In the absence of universally accepted standards for medical necessity policies, payers utilize existing evidence to produce documents of varying content, structure, educational level, and accessibility. This variability results in inconsistent access for individuals with rare diseases. A PLUGS consensus statement seeks to increase standardization through a proposed framework that can be adopted by payers when creating policies (6).
Payers were moved by the chance to connect directly with rare disease patients and families and discussed how to secure representation within their respective organizations. Patient advocacy groups are increasingly involved with policy, research, diagnostics, and therapeutics for their disease of interest (7), and a natural extension is with payer organizations.
Several themes emerged from the forum, including the need for a strong medical home for rare disease patients, insurance coverage for emerging diagnostic technologies, access to genetic counseling and care coordination, support for cell and gene therapies, and a seat at the table within payer organizations for patient advocates.
The NW Rare Disease Coalition’s efforts underscore the importance of connection, advocacy, and data in improving the lives of those affected by rare diseases. The voices of patients and caregivers are indispensable in shaping effective healthcare policies and practices.
Jessie Conta, MS, CGC, is a licensed genetic counselor and owner at Pickhandle Consulting. +Email: [email protected]
Carolina Sommer is CEO and founder of Born a Hero Research Foundation and co-founder of the NW Rare Disease Coalition.
Max Brown is vice president of public affairs at Desimone Consulting Group and co-founder of NW Rare Disease Coalition.
Joshua Henderson is head of rare diseases at Pulse Infoframe and co-founder of NW Rare Disease Coalition.
1. Global Genes. RARE disease facts. https://globalgenes.org/learn/rare-disease-facts/ (Accessed July 9, 2024).
2. EveryLife Foundation for Rare Diseases. The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study. https://everylifefoundation.org/wp-content/uploads/2023/09/EveryLife-Cost-of-Delayed-Diagnosis-in-Rare-Disease_Final-Full-Study-Report_0914223.pdf (Accessed July 9, 2024).
3. Once Upon a Gene Podcast. Episode 231- The Power of Genetic Diagnosis - More Than Just a Label https://effieparks.com/podcast/episode-231-more-than-just-a-label (Accessed June 6, 2024).
4. Dimmock D, Caylor S, Waldman B, et al. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet 2021; doi: 10.1016/j.ajhg.2021.05.008.
5. UnitedHealthcare. Complex Health Needs. https://www.uhc.com/news-articles/benefits-and-coverage/complex-health-needs (Accessed July 9, 2024).
6. Patient-centered Laboratory Utilization Guidance Services. PLUGS Consensus Recommendations and Framework for Development of Payer Medical Necessity Policies. https://www.schplugs.org/insurance-alignment (Accessed August 1, 2024).
7. Patterson AM, O'Boyle M, VanNoy GE, Dies KA. Emerging roles and opportunities for rare disease patient advocacy groups. Ther Adv Rare Dis.2023; doi: 10.1177/26330040231164425.