Evidence map›Paper›PMID 41736042›Full record

SynthesisBMC medical genomics2026

The implementation of Next-Generation Sequencing (NGS) in a Brazilian Public Hospital: a systematic review of challenges and perspectives in oncology.

Stêphanie Rocha Vieira Elexias, Bruno A Lopes, Rodolfo Acatauassú, Louisy Sanches Dos Santos, Thiago Castro, Mariana Chantre-Justino, Thaís Porto Amadeu, Fabricio Borges Carrerette, Maria Helena Ornellas, Flavia Barata Ribeiro Pinto and 3 more

Abstract readSystematic Review
In one paragraph

Synthesis in BMC medical genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Stêphanie Rocha Vieira ElexiasDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil.
Bruno A LopesDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil.
Rodolfo AcatauassúDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil.
Louisy Sanches Dos SantosDepartamento de Microbiologia, Imunologia e Parasitologia, Faculdade de Ciências Médicas (FCM-UERJ), Rio de Janeiro, RJ, Brazil.
Thiago CastroDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil.
Mariana Chantre-JustinoDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil.
Thaís Porto AmadeuDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil.
Fabricio Borges CarreretteServiço de Urologia, Hospital Universitário Pedro Ernesto (HUPE-UERJ), Rio de Janeiro, RJ, Brazil.
Maria Helena OrnellasDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil.
Flavia Barata Ribeiro PintoDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil.
Livia LoureiroMedical Affairs Organization, Illumina, São Paulo, São Paulo, Brazil. lloureiro@illumina.com.
Adriana Huertas-VazquezMedical Affairs Organization, Illumina, São Paulo, São Paulo, Brazil.
Fabio SantiagoDepartamento de Patologia Geral e Laboratórios, Faculdade de Ciências Médicas (FCM-UERJ), Prof. Manoel de Abreu Street, 444 - 4º andar (Department of General Pathology). Vila Isabel, Rio de Janeiro, RJ, 20550-170, Brazil. fabiosantiago.uerj@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNext-generation sequencing (NGS) technology has revolutionized oncology by detecting novel and rare somatic cancer mutations and identifying individuals with pathogenic germline variants, both of which can facilitate personalized medicine. By integrating NGS into routine diagnosis in Brazil, patients may benefit from improved treatment responses, however, several barriers to the implementation of NGS in Brazil exist. This review provides practical insights into how NGS can be integrated into diagnostics in public hospitals.

methodsA comprehensive systematic review was conducted following the guidelines of the Preferred Reporting Items for Systematic Review and Meta Analysis (PRISMA). PubMed, Medline, and Cochrane databases were queried for publications written in English, French, Portuguese, or Spanish from 2014 to February 2025. The research was conducted using Medical Subject Headings (MeSH), including terms such as NGS, public hospital, diagnostic, implementation and Brazilian Public Health System (SUS).

resultsOf the 7804 articles identified, 1233 were analyzed with only 10 meeting inclusion criteria. Current literature on NGS is largely centered in the Global North, with limited contributions from low- and middle-income countries. Key challenges included lack of access to molecular profiling and inadequate medical education (27% each), high costs of NGS (23%), data interpretation challenges (15%), and need for additional cost-benefit analyses (8%). Of note, only one paper conducted a cost-effectiveness analysis, demonstrating the utility of NGS in treating cancer.

conclusionsThis systematic review highlights key gaps on NGS implementation in Brazil. There is a need for improved education for healthcare professionals and students to effectively incorporate NGS into clinical oncology practice, as well as strategies to lower costs of sequencing and systematic data interpretation pipelines. Despite these challenges, Brazil has the potential to lead NGS implementation in Latin America. Our experiences at a public hospital may be used as a model to implement NGS through meticulous procurement management, leveraging expertise from basic research, and integrating AI-driven data analysis platforms.

Indexed as

High-Throughput Nucleotide SequencingHospitals, PublicMedical OncologyNeoplasmsBrazilHumansBrazilNext-Generation sequencingPrecision oncology/Medical oncologyPublic health

Identifiers

PMID41736042
PMCPMC13040760

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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.