RDs are a group of poorly understood, predominantly heritable disorders that often manifest in childhood and have a significant impact on quality of life and life expectancy. RDs are not uncommon. There are between 6,000-8,000 RDs, which affect approximately 350-450m people globally. In Latin America alone, roughly 40-50m people are affected by a RD.
The road to diagnosis for RD patients in Latin America is long. RD patients often have to see multiple healthcare professionals before receiving an accurate diagnosis. On average, receiving a correct diagnosis can take four to five years and require multiple healthcare consultations and referrals to different specialists. However, the diagnostic pilgrimage can sometimes span decades.
Generally, in Latin America, 75% of RD patients lack a definitive diagnosis. One factor contributing to mis-and underdiagnosis is the significant knowledge gap among healthcare professionals, especially primary care providers, caused by the rarity and complexity of these diseases and the absence of standardised criteria for diagnosis. Delayed and/or inaccurate diagnosis can lead to inappropriate disease management and disease progression, and significantly impact a patient’s health, well-being, and, ultimately, their survival. This, coupled with the lack of treatment options, (close to 95% of RDs lack approved medical treatment), can have significant ramifications for patients’ path forward in the care journey.
In Latin America, access to RDs diagnosis and treatment is influenced by socioeconomic status and geographic disparities. Many RD patients are forced to travel long distances, often outside of their countries of origin, to access care; yet, less than 3% of the Latin American population is financially able to travel for medical treatment. The care journey for RD patients also differs significantly between the public and private healthcare sectors. In the public system, there are limitations to diagnosis and therapy access, leading to long, resource-intensive medical journeys; this disproportionately impacts access for low-income patients. On the other hand, although the private sector offers faster diagnosis and treatments, high costs still restrict access, highlighting systemic challenges in both sectors. Many who cannot afford medication and need coverage seek legal routes.
While recent years have seen advances across the treatment and reimbursement landscape, diagnostic challenges hamper progress and adversely impact patients and caregivers living with RDs. Addressing the years-long diagnostic odyssey is key to ensuring RD patients live healthier, longer, and more fulfilling lives. The future is bright for people living with RDs if Latin American countries foster a supportive environment for innovation to thrive. While progress has been made in countries like Mexico, Brazil, and Colombia the availability of, and access to, cutting-edge genetic testing technologies and RD treatment is far from comprehensive. This highlights the need for policy prioritization and cost-effective innovation to ensure that cost is not a deterrent to RD diagnosis, treatment, and care. Only through concerted efforts can we end the diagnostic odyssey and transform the medical management of RDs in Latin America.
