ArticleFrontiers in genetics2026
Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Rare diseases affect approximately 6%-7% of the Brazilian population, representing a significant public health challenge due to diagnostic delays and inequitable access to genomic services. This study evaluates a 5-year implementation of next-generation sequencing (NGS) at a Reference Service for Rare Diseases (RDRS) within the Brazilian Unified Health System (SUS), examining diagnostic performance and barriers to equitable access to genomic medicine. Methods: A cohort of 385 patients with suspected genetic disorders underwent clinical or whole-exome sequencing (CES/WES) between 2019 and 2024. Exome analyses were guided by standardized Human Phenotype Ontology (HPO)-based phenotypic characterization, resulting in an overall diagnostic yield of 38.7% (149/385 cases). Results: A total of 249 variants were identified across 165 genes, including 75 variants not previously reported in medical literature or public databases. Actionable secondary findings were detected in 3.2% of cases, involving pathogenic variants in genes related to cardiac disease, cancer predisposition, and anesthesia risk, underscoring the preventive potential of genomic testing. Discussion: The implementation of NGS in the Brazilian public health system is feasible and highly impactful, yielding a 38.7% diagnostic rate that significantly reduces the diagnostic odyssey for rare disease patients. Success was heavily dependent on a multidisciplinary approach, standardized HPO-based phenotypic characterization, and close clinical-laboratory integration. The identification of 75 novel variants highlights the genetic complexity of Brazil's admixed population and the challenges of interpreting variants of uncertain significance (VUS) in underrepresented groups. Furthermore, the detection of actionable secondary findings demonstrates the broader preventive potential of genomic testing, underscoring the need for expanded local databases, genomic literacy among clinicians, and robust ethical frameworks for patient management.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.