Clinical laboratories worldwide are implementing next-generation sequencing (NGS) to identify cancer genomic variants and ultimately improve patient outcomes. The ability to massively sequence the entire genome or exome of tumour cells has been critical to elucidating many complex biological questions. However, the depth of information obtained by these methods is strenuous to process in the clinical setting, making them currently unfeasible for broader adoption. Instead, targeted sequencing, usually on a selection of clinically relevant genes, represents the predominant approach that best balances accurate identification of genomic variants with high sensitivity and a good cost-effectiveness ratio. The information obtained from targeted sequencing can support diagnostic classification, guide therapeutic decisions, and provide prognostic insights. The use of targeted gene panels expedites sample processing, including data analysis, results interpretation, and medical reports generation, directly affecting patient management. The key decision factors for selecting sequencing methods and panel size in routine testing should include diagnostic yield and clinical utility, sample availability, and processing turnaround time. Profiling by default all patients with late-stage cancer with large panels is not affordable for most healthcare systems and does not provide substantial clinical benefit at present. Balancing between understanding cancer biology, including patients in clinical trials, maximising testing, and ensuring a sustainable financial burden for society requires thorough consideration. This review provides an overview of the advantages and drawbacks of different sizes NGS panels for tumour molecular profiling and their clinical applicability.
INTRODUÇÃO: O mecanismo de ação dos inibidores do co-transportador de sódio-glicose 2 (iSGLT2) consiste no aumento da glicosúria. Existe evidência da associação entre a sua toma e a ocorrência de infeções genitais. Porém, a associação com infeções do trato urinário (ITU) não está bem estabelecida. Pretende-se analisar a evidência atual sobre a associação entre iSGLT2 em doentes com diabetes mellitus tipo 2 e a ocorrência de ITU.MÉTODOS: Pesquisadas normas de orientação clínica, meta-análises (MA), revisões sistemáticas e ensaios clínicos controlados e aleatorizados (ECCA) entre outubro de 2011 e outubro de 2021 na The National Institute for Health and Care Excellence, The Cochrane Library e PubMed. Utilizados os termos MeSH “urinary tract infection”, “sodium-glucose transporter 2 inhibitors” e “diabetes mellitus, type 2”. Para atribuição dos níveis de evidência (NE) foi utilizada a escala Strength of Recommendation Taxonomy, da American Academy of Family Physicians.RESULTADOS: Dos 331 resultados identificados, 6 cumpriram os critérios de inclusão: 5 ECCA e 1 MA. Todos classificados com NE 2. A evidência da associação entre a toma de iSGLT2 e ITU foi apenas demonstrada, de forma estatisticamente significativa, na MA e relativamente à dapagliflozina na dosagem de 10 mg.CONCLUSÃO: Os estudos apresentam resultados heterogéneos, inconsistentes e de qualidade moderada. Os iSGLT2 têm afirmado o seu lugar no tratamento de múltiplas patologias pelo que impera a realização de estudos dirigidos à ocorrência de efeitos adversos como a frequência de ITU. Devem ainda compreender amostras de maior dimensão, diferentes moléculas e posologias, para a obtenção de evidência robusta.
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