São Paulo, Brazil, 28 February 2026 — As Rare Disease Day approaches, the global health community confronts a hard reality: while each rare disease affects only a small number of individuals, together they impact hundreds of millions worldwide. In Brazil alone, more than 13 million people live with a rare condition, many enduring diagnostic journeys that stretch for years, often decades, marked by uncertainty, repeated testing and limited access to advanced genomic diagnostics.
National initiatives such as the Brazilian Rare Genomes Project, alongside the launch of NeoGenomica by immunologist João Bosco de Oliveira Filho, are accelerating a shift toward genome-first care, bringing whole-genome sequencing into routine clinical practice.
Rare diseases are individually uncommon but collectively widespread. Nearly 10,000 rare disorders affect an estimated 500 million people globally. As João Bosco notes, “We talk about rare diseases, but it’s not a rare problem. It’s a very common problem that affects a large number of people.” In Brazil, historically limited access to genomic testing has left many patients trapped in prolonged diagnostic odysseys.
In 2024, João Bosco founded NeoGenomica to expand access to advanced genetic testing for rare diseases and precision medicine. Despite growing momentum, millions of Brazilian patients still face delayed or incomplete diagnoses, underscoring the need for scalable, clinically integrated genomic solutions. To address this gap, NeoGenomica partnered with MGI Tech to advance rare disease diagnosis nationwide. In a recent podcast episode, João Bosco and Victor Camillo, Sales Director at MGI Tech Brazil, explained how the collaboration establishes scalable and equitable diagnostic frameworks. By leveraging MGI’s high-throughput sequencing platforms, the partnership aims to accelerate genomic testing and support faster, more accurate clinical decisions.
Brazil vs United States: healthcare systems and genomic access
According to João Bosco, the contrast between Brazil and the United States is structural. American institutions benefit from a mature ecosystem of commercial laboratories and established genomic reimbursement pathways, but access varies widely depending on insurance coverage. Brazil’s universal healthcare system lowers patient-level financial barriers, yet requires centralised investment decisions to justify infrastructure expansion. While both countries are moving toward whole-genome sequencing as a first-line diagnostic tool, the challenges differ. The United States must navigate fragmented reimbursement systems. Brazil must scale infrastructure within a publicly funded framework. That structure allows Brazil to bypass legacy testing models altogether. “We are not obligated to follow the same incremental path,” João says. “If the evidence supports whole-genome sequencing, we can design our infrastructure around it from the outset.”
Scaling Genomas Raros into national WGS infrastructure
Before founding NeoGenomica, João Bosco coordinated the Genomas Raros programme at Hospital Israelita Albert Einstein, evaluating the feasibility of whole-genome sequencing within Brazil’s public healthcare system. The programme demonstrated higher diagnostic yield than exome-based approaches, particularly in neurological and paediatric disorders where structural variants and non-coding regions play a critical role. “Technology alone is not enough,” João explains. “You need validated workflows, trained professionals and a long-term vision. Otherwise, sequencing remains an academic exercise rather than a clinical solution.” The initiative built infrastructure, developed expertise and established workflows capable of supporting expansion toward 100,000 genomes nationally.
Whole-genome sequencing as a first-line diagnostic tool
Historically, rare disease diagnostics relied on targeted gene panels or whole exome sequencing, which analyses only protein-coding regions. Whole-genome sequencing captures coding and non-coding regions, structural variants, copy number changes and mitochondrial DNA in a single assay. “When families have already undergone multiple inconclusive tests, repeating narrower assays only prolongs uncertainty,” Victor Camillo says. “Whole-genome sequencing consolidates that process, giving clinicians the most complete dataset from the start.” Rapid whole-genome sequencing in neonatal intensive care units can significantly improve outcomes for infants with monogenic disorders. While the United States continues to wrestle with reimbursement variability, Brazil is focused on building distributed capacity within a national public healthcare framework. MGI supports laboratories across Latin America with end-to-end solutions spanning DNA extraction, automated library preparation and high-throughput sequencing platforms. Automation reduces human error, lowers costs and improves reproducibility, all essential for clinical diagnostics. “Latin America has strong scientific talent,” Victor notes. “The challenge is uneven infrastructure and funding. Partnerships are how we close that gap.”
NeoGenomica: Brazil’s genome-first sequencing laboratory
Following Genomas Raros, João founded NeoGenomica in Recife as a precision genomics laboratory built entirely around a whole-genome-first philosophy. Rather than continuing with panels or exomes, the lab adopted a whole-genome-only model, reflecting the reality that falling costs, faster turnaround times and higher diagnostic yield have made this approach the most future-proof strategy for rare disease diagnostics. NeoGenomica integrates standardised workflows, automation and advanced analytics, with a strong focus on AI-assisted variant prioritisation, automated reanalysis of uncertain findings, deep phenotype integration and longitudinal reinterpretation. “The main bottleneck is no longer generating data,” João says. “It’s analysing data.” Victor adds, “Technology deployment is only the beginning. Sustained collaboration, validation and workflow optimisation are what allow genome-first medicine to function at scale.”
Advancing a new standard in rare disease diagnosis
Brazil is reaching a pivotal moment in rare disease care. Sequencing capacity, infrastructure and clinical demand are converging, enabling whole-genome sequencing to move from research consortia into routine clinical use. “A diagnosis is only the first step,” João Bosco emphasises. “After that, there is still a long path to improving the lives of patients and their families.” Through continued investment, workforce development and international collaboration, Brazil is laying the foundations for faster diagnoses, better outcomes and renewed hope for millions affected by rare diseases. More than a technological shift, this represents a structural transformation in how precision medicine is delivered, evolving from isolated research efforts into sustainable national healthcare strategies. As genomic capacity expands, Brazil’s genome-first model is positioned to serve as a reference point for other middle-income countries seeking to integrate advanced genomics into public health systems.
