Addressing rare diseases and access to surgical care in Brazil: a call to action

Background

Contrary to common belief, rare diseases combined are not rare and represent a global concern. ¹ An estimated 300 million people worldwide live with a rare disease, accounting for 3.5%–5.9% of the global population. ² Numerous barriers persist in diagnosing and treating rare conditions. The average time to receive an accurate diagnosis is 4.2 years, with 40% of patients facing multiple misdiagnoses. ² Such delays contribute to the progression of chronic disabilities associated with these conditions, as well as physical, mental, and emotional distress. Furthermore, 95% of rare diseases lack approved treatments, leaving most patients with ineffective medical management.^1,2 Unsurprisingly, 30% of patients die before the age of 5 years. ³ This gap is even greater in low- and middle-income countries (LMICs). ¹

Beyond medical challenges, the economic burden of rare diseases is substantial. For instance, the lifetime cost of managing certain rare diseases varies significantly: cystic fibrosis (€287,591 to €1,907,384), Duchenne muscular dystrophy (€541,593), fragile X syndrome (€546,112 to €980,057), and hemophilia (€133,024 to €258,025). ⁴ These figures highlight the financial strain on patients, families, and healthcare systems. Addressing these costs requires not only improved access to pharmacological treatments but also investments in multidisciplinary care, including surgical interventions.

One such example is syndromic craniosynostosis, a congenital disorder caused by the premature fusion of cranial sutures, which can impair brain growth and lead to severe complications such as intracranial hypertension, breathing difficulties, exorbitism, and cognitive impairment. ⁵ While early surgical interventions aim to release fused sutures in infancy, patients often require long-term follow-up and multiple procedures, including midface advancements and combined orthodontic-surgical treatments. ⁵ This highlights the critical role of surgical care in the management of some rare diseases and the need to ensure equitable access to these interventions.

Bridging these gaps requires comprehensive policy frameworks that integrate rare diseases into national health planning. Brazil’s experience offers a valuable case study on how such policies can be designed and implemented. In this context, we aim to illustrate how a National Surgical, Obstetric, and Anesthesia Plan (NSOAP) could complement existing rare disease policies by specifically strengthening surgical services essential for the management of many rare conditions. This targeted approach not only addresses critical gaps in surgical care for individuals with rare diseases but also contributes to broader improvements in the health system. Our analysis draws on discussions from the 2024 Symposium on Craniofacial Disorders and Surgical Gaps in Rare Diseases, held in Brazil, which convened health leaders from the Americas and Europe to explore strategies for integrating surgical services for rare diseases into national healthcare systems.

Challenges and opportunities for rare diseases in Brazil

In Brazil, at least 13 million individuals live with rare conditions. ⁶ Given this considerable estimate, Brazil became one of the first countries in Latin America to establish a National Policy for the Comprehensive Care of People with Rare Diseases under Ordinance nº 199/2014 of the Brazilian Ministry of Health. ⁷ This policy aimed to ensure timely access to diagnostic and therapeutic methods tailored to patients’ needs. ⁷ Despite this milestone, improving healthcare for rare diseases remains a national challenge.

The centralization of reference hospitals in Brazilian state capitals, coupled with the concentration of high-complexity treatments in the southern and southeastern regions, often forces patients and their families to leave their jobs and relocate to other cities in search of care. ⁸ By 2016, the Brazilian Ministry of Health had fully authorized seven centers to provide services for rare diseases. ⁹ However, most services had limited coverage, primarily focusing on congenital diseases, inborn errors of metabolism, and intellectual disabilities. ⁹

For the Brazilian health workforce, limited knowledge about rare diseases constitutes a critical barrier. In a nationwide survey of 4026 Brazilian physicians, 52% of participants reported being unsure about how to manage cases of primary immunodeficiency. Furthermore, only 5.8% of surgeons correctly addressed at least two-thirds of the clinical cases. ¹⁰ This lack of training and awareness also impacts therapeutic planning, as many healthcare professionals feel uncertain about prescribing medications for patients with rare diseases, fearing that inappropriate treatment could worsen their conditions. ⁸

The management of public health expenditures for rare diseases also requires attention. Between 2019 and 2022, the Brazilian Ministry of Health allocated approximately 764 million USD in resources for rare diseases, encompassing workforce training, neonatal screening, diagnosis, and the development of new treatment protocols. ¹¹ Despite high costs, treating rare diseases can be a cost-effective approach. While pharmacological treatments are expensive, companies developing high-cost drugs often achieve returns near their capital costs. ¹² In addition, disease-modifying treatments can contribute to improved long-term quality of life by preserving functional abilities. For instance, cost-effectiveness thresholds for ultra-rare disease treatments have reached 500,000 USD per quality-adjusted life-year in the US and 390,000 USD in the United Kingdom. ¹³

The development of digital platforms for rare diseases is another key area that requires improvement. At the health system level, digital solutions can streamline administrative processes, improve data collection reliability, foster communication across sectors, and establish quality indicators. ¹⁴ Brazilian initiatives, such as the Rare Diseases National System (RARAS, Rede Nacional de Doenças Raras) and RARAS CRO, represent promising national efforts to collect data and raise awareness about rare diseases. Moving forward, these digital platforms can play a crucial role in bridging care gaps, enhancing early disease detection, and ensuring more equitable access to healthcare services nationwide.

Surgical system strengthening as a policy response for rare diseases

In this context, NSOAPs can serve as a valuable framework for systematically addressing the needs of patients with rare diseases. NSOAPs are national health policy tools designed by ministries of health, in collaboration with diverse stakeholders such as professional societies, global health organizations, and academic institutions, to strengthen surgical systems as part of universal health coverage and to be used by policymakers and health system planners as a roadmap for coordinated investment and implementation (Figure 1). ¹⁵ These plans are developed in alignment with countries’ national health strategies, ensuring their acceptance and potential expansion. NSOAPs focus on six key components: infrastructure, service delivery, information management, health workforce, financing, and governance. ¹⁵ Over 40 nations are engaged in the NSOAP process, with 11 in implementation and 11 in development phases.^16,17

Figure 1.

The general principles of National Surgical, Obstetric and Anaesthesia Plans (NSOAPs).

In the case of Brazil, implementing an NSOAP could complement its National Policy for the Comprehensive Care of People with Rare Diseases by providing a detailed, operational roadmap that focuses specifically on strengthening surgical services critical to managing some rare conditions. By addressing essential components such as infrastructure, workforce, financing, and governance, the NSOAP fills important gaps in surgical capacity and coordination. This complementary approach ensures that surgical care for patients with rare diseases is systematically planned and resourced, enhancing the implementation and impact of the existing national policy.

In this regard, NSOAPs create possibilities for targeted interventions throughout their development process. First, by supporting the development of specialized centers for surgical care, NSOAPs can help concentrate resources and expertise, enabling coordinated care for rare diseases. Similar initiatives exist, though not solely focused on surgical conditions. France was the first country to establish comprehensive centers for rare diseases through its National Plan for Rare Diseases, and today, it has over 600 centers that coordinate research, train healthcare professionals, and facilitate diagnoses. ¹⁸ Yet, the success of this model also depends on the ability of primary healthcare facilities to raise clinical suspicion and appropriately refer patients. ¹⁸ Moreover, developing specialized services facilitates the creation and dissemination of clinical guidelines, promoting evidence-based, standardized care for rare diseases.

In addition, NSOAPs can offer opportunities to enhance the knowledge and skills of healthcare professionals toward rare diseases. Programs may include specialized training modules, workshops, and continuing education on the diagnosis, treatment, and patient care of rare diseases. In Argentina, the Ministry of Health launched a course for healthcare professionals to promote online clinical discussions and biweekly telemedicine consultations about rare cases. ¹⁸

Furthermore, NSOAPs can help optimize healthcare information systems by capturing surgical assistance indicators and retrieving data to set health priorities. Rare disease registries can be integrated into these comprehensive databases to periodically capture relevant data points. Brazil has national registries for rare diseases that could serve this purpose if adequately integrated. ¹⁹ The Banque Nationale de Données Maladies Rares is an excellent example of national registry coordination, allowing the retrieval of data from expert centers. ¹⁸ A similar initiative was seen in China with the establishment of its National Rare Diseases Registry System. ²⁰

NSOAPs may also help allocate funding for research on rare diseases. Potential initiatives that could be supported include research into the genetic basis of these conditions, clinical trials for novel therapies, and the evaluation of patient outcomes. Although not a national plan, the Orphan Drug Act in the US exemplifies how law-based interventions promote research and innovation for rare diseases. ²¹ This law encouraged the production of orphan drugs by offering financial incentives to pharmaceutical companies to offset the potential losses of selling drugs to such a limited market. ²¹ As a result, more than 500 new drugs were covered in the following three decades after the approval of the Orphan Drug Act in 1983. ¹⁸ By setting research opportunities, NSOAPs can contribute to advancing knowledge and innovation in rare disease management. To encourage the mutual strengthening of the surgical system and care for rare diseases, and following the insights provided by Brazil’s health system management, we proposed the action points highlighted in Box 1.

Box 1.

Proposed steps for including rare diseases in surgical system planning.

Governance 1. Secure commitment and leadership from the Ministry of Health to ensure rare diseases are incorporated into national health strategies and receive the necessary resources. 2. Facilitate stakeholder engagement and collaborative national priority setting by bringing together, but not limited to, researchers, healthcare professionals, patients and advocacy groups, policymakers, pharmaceutical and biotechnology companies specializing in orphan drugs, and the broader healthcare industry. Infrastructure 3. Undertake a baseline assessment of existing healthcare infrastructure and services to identify gaps in rare disease diagnosis, treatment, and care. Use these insights to inform targeted improvements and strategic planning. 4. Upgrade facilities and surgical infrastructure to accommodate complex multidisciplinary procedures for rare conditions. Information Systems 5. Enhance existing national registries such as RARAS by mandating the standardized registration of surgically relevant outcomes for individuals with rare diseases. This would improve the estimation of surgical burden, facilitate outcome monitoring, and inform evidence-based planning and prioritization within surgical systems. 6. Invest in digital solutions to enhance information capacity, allowing patients to coordinate their care with healthcare professionals in a comprehensive and multidisciplinary manner. Workforce 7. Promote nationwide training and expertise on rare diseases for correct diagnosis and timely referral to specialized centers or clinics for rare diseases. These centers can serve as hubs for diagnosis, treatment, and research, bringing together multidisciplinary teams of specialists to manage rare diseases. Financing 8. Conduct detailed budgeting and cost analyses to determine the line-item costs of surgical procedures, and allocate funding accordingly, based on a comprehensive needs assessment, to support surgical care, research, and innovation for rare diseases. 9. Engage with private and public funding sources and implementation agencies to explore sustainable financing mechanisms and partnerships toward early disease detection, long-term management, research, and innovation. Service Delivery 10. Prioritize the development of patient and family support services, such as genetic counseling, psychosocial support, and financial assistance programs. 11. Launch awareness campaigns to educate the public about rare diseases, reduce stigma, and foster a supportive community for patients and families. 12. Establish centers of excellence for surgical care of rare diseases; develop care pathways for conditions such as syndromic craniosynostosis.

Conclusion

Integrating rare diseases into surgical policy frameworks, such as NSOAPs, provides a structured pathway for governments to enhance access to the surgical services necessary for managing many rare conditions, while simultaneously strengthening overall health system capacity. Brazil’s experience offers a valuable case study on how such an approach can be implemented within the framework of a publicly funded health system, working in conjunction with an existing national policy for rare diseases. Although the strategies implemented in Brazil may not be universally applicable, they offer lessons that can guide context-sensitive adaptations in other LMICs. Additional research is necessary to assess the feasibility, resource needs, and potential impact of adopting similar approaches within diverse health system contexts. Nonetheless, integrating surgical care for individuals with rare diseases into national health planning remains a critical objective worldwide, ensuring that no one is left behind.