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1.
Rev. lab. clín ; 12(3): e1-e8, jul.-sept. 2019. tab
Artigo em Espanhol | IBECS-Express | ID: ibc-ET1-4167

RESUMO

En las últimas décadas ha habido grandes avances en los tratamientos personalizados en pacientes oncológicos gracias a un importante desarrollo científico. El análisis genómico ha mostrado que tumores que parecían tener un origen común, en realidad constituyen un grupo de diversas entidades moleculares. Por otro lado, ha sido muy importante el desarrollo de fármacos dirigidos que actúan de forma específica en las rutas bioquímicas involucradas en el proceso oncológico. El conocimiento de la biología celular y molecular del cáncer ha hecho posible identificar los mecanismos responsables de la transformación maligna y está permitiendo utilizar nuevos marcadores de especial utilidad para definir el pronóstico y determinar el tratamiento de las enfermedades oncológicas


Due to significant scientific developments in the last decades, treatment for oncology patients has started to use more specific and personalised approaches. The genomic analysis has demonstrated that tumours that seemed similar constitute a diverse group of molecular entities. One of the most important breakthroughs is the development of targeted drugs aimed at specific biochemical pathways. Recent advances in knowledge of the cellular and molecular biology of cancer have helped in the identification of the mechanisms of cell malignant transformation, therefore allowing the use of new predictive factors and molecular treatments in cancer

2.
Rev. lab. clín ; 12(3): e25-e39, jul.-sept. 2019. tab
Artigo em Espanhol | IBECS-Express | ID: ibc-ET1-4169

RESUMO

Varios miembros de diferentes asociaciones científicas y expertos de la reproducción han actualizado las recomendaciones de estudio genético e inmunológico en las parejas con disfunción en la reproducción con el fin de mejorar la asistencia sanitaria. El estudio se ha considerado altamente recomendable cuando la prueba diagnóstica es relevante para la toma de decisiones, moderada cuando estas han mostrado un resultado poco consistente y baja, cuando el beneficio de la prueba es incierto. Con la indicación de estas recomendaciones obtendremos una información relevante para el diagnóstico, pronóstico y tratamiento de la pareja con disfunción en la reproducción


In this article several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological procedure recommendations in couples affected by reproductive dysfunction with the goal of providing a set of useful guidelines for the clinic. The laboratory test has been considered as highly recommendable for making clinical decisions when the result of the diagnostic test is relevant, moderately recommendable when the results are of limited evidence because they are inconsistent, and low when the benefit of the test is uncertain. It is expected that these recommendations will provide some useful guidelines for the diagnosis, prognosis and treatment of couples presenting reproductive dysfunction

5.
Hum Mutat ; 40(9): 1557-1578, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31131967

RESUMO

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification.

6.
Rev. lab. clín ; 11(4): 202-208, oct.-dic. 2018. graf
Artigo em Espanhol | IBECS | ID: ibc-176918

RESUMO

La medicina personalizada, medicina de precisión o medicina individualizada ha sido definida como una manera de abordar el tratamiento y la prevención de las enfermedades en base a la variabilidad genética, ambiental y al estilo de vida de cada persona. Clasifica a los individuos en subpoblaciones que difieren en la susceptibilidad a desarrollar una enfermedad determinada o en la respuesta a un tratamiento específico, con el fin de aplicar el seguimiento y tratamiento más adecuado a cada paciente. La implementación de los procesos asociados a la Medicina Personalizada implica que los profesionales de laboratorio se enfrenten a una tecnología muy avanzada y poco conocida y a la dificultad de interpretación de los hallazgos, especialmente la valoración de su significación clínica. En este artículo se revisa la situación actual de la Medicina Personalizada, la función del laboratorio dentro de la misma y los retos que se deben afrontar


Personalised medicine, precision medicine, or individualised medicine has been defined as the way of preventing and treating diseases based on the genetic, environmental, and lifestyle variability for each individual. It classifies subjects into sub-populations that have different susceptibilities to develop a specific disease or to respond to a particular treatment. Its aim is to follow-up and treat each patient in the more suited to the patient. The establishment of the processes related to personalised medicine requires that specialists in Laboratory Medicine cope with cutting-edge, and little-known, technology with an interpretation that is highly complex from a clinical point of view. This review summarises the current situation of personalised medicine, the role of laboratory medicine in its implementation, and the challenges that need to be faced


Assuntos
Humanos , Medicina de Precisão/tendências , Ciência de Laboratório Médico/tendências , Modelagem Computacional Específica para o Paciente/tendências , Genômica/tendências , Farmacogenética/tendências , Relatório de Pesquisa
8.
Med. clín (Ed. impr.) ; 151(4): 161.e1-161.e12, ago. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-173869

RESUMO

Varios miembros de diferentes asociaciones científicas y expertos de la reproducción han actualizado las recomendaciones de estudio genético e inmunológico en las parejas con disfunción en la reproducción con el fin de mejorar la asistencia sanitaria. El estudio se ha considerado altamente recomendable cuando la prueba diagnóstica es relevante para la toma de decisiones, moderada cuando estas han mostrado un resultado poco consistente y baja, cuando el beneficio de la prueba es incierto. Con la indicación de estas recomendaciones obtendremos una información relevante para el diagnóstico, pronóstico y tratamiento de la pareja con disfunción en la reproducción


In this article several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological procedure recommendations in couples affected by reproductive dysfunction with the goal of providing a set of useful guidelines for the clinic. The laboratory test has been considered as highly recommendable for making clinical decisions when the result of the diagnostic test is relevant, moderately recommendable when the results are of limited evidence because they are inconsistent, and low when the benefit of the test is uncertain. It is expected that these recommendations will provide some useful guidelines for the diagnosis, prognosis and treatment of couples presenting reproductive dysfunction


Assuntos
Humanos , Masculino , Feminino , Reprodução/genética , Obtenção de Tecidos e Órgãos/métodos , Reprodução/imunologia , Prognóstico , Reprodução/ética , Infertilidade Masculina/genética , Epigênese Genética
9.
Hum Mutat ; 39(9): 1155-1160, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29969168

RESUMO

Many BRCA1 and BRCA2 (BRCA1/2) genetic variants have been studied at mRNA level and linked to hereditary breast and ovarian cancer due to splicing alteration. In silico tools are reliable when assessing variants located in consensus splice sites, but we may identify variants in complex genomic contexts for which bioinformatics is not precise enough. In this study, we characterize BRCA2 c.7976 + 5G > T variant located in intron 17 which has an atypical donor site (GC). This variant was identified in three unrelated Spanish families and we have detected exon 17 skipping as the predominant transcript occurring in carriers. We have also detected several isoforms (Δ16-18, Δ17,18, Δ18, and ▼17q224 ) at different expression levels among carriers and controls. This study remarks the challenge of interpreting genetic variants when multiple alternative isoforms are present, and that caution must be taken when using in silico tools to identify potential spliceogenic variants located in GC-AG introns.


Assuntos
Processamento Alternativo/genética , Proteína BRCA2/genética , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Mutação/genética , Idoso , Idoso de 80 Anos ou mais , Proteína BRCA1/genética , Simulação por Computador , Éxons/genética , Feminino , Variação Genética/genética , Síndrome Hereditária de Câncer de Mama e Ovário/patologia , Humanos , Íntrons/genética , Isoformas de Proteínas , Sítios de Splice de RNA/genética
11.
Med Clin (Barc) ; 151(4): 161.e1-161.e12, 2018 08 22.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29680457

RESUMO

In this article several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological procedure recommendations in couples affected by reproductive dysfunction with the goal of providing a set of useful guidelines for the clinic. The laboratory test has been considered as highly recommendable for making clinical decisions when the result of the diagnostic test is relevant, moderately recommendable when the results are of limited evidence because they are inconsistent, and low when the benefit of the test is uncertain. It is expected that these recommendations will provide some useful guidelines for the diagnosis, prognosis and treatment of couples presenting reproductive dysfunction.


Assuntos
Infertilidade Feminina/genética , Infertilidade Feminina/imunologia , Infertilidade Masculina/genética , Infertilidade Masculina/imunologia , Aberrações Cromossômicas , Concepção de Doadores/normas , Epigênese Genética , Feminino , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/classificação , Testes Genéticos/normas , Humanos , Masculino , Reprodução/ética , Fatores Sexuais
13.
Rev. lab. clín ; 10(4): 221-226, oct.-dic. 2017. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-166855

RESUMO

La recertificación consiste en certificar la renovación de las competencias específicas de los profesionales titulados referidos en la ley de ordenación de las profesiones sanitarias. El objetivo es certificar que el profesional esté cualificado para realizar un ejercicio profesional con el fin de garantizar una asistencia sanitaria de calidad. Las organizaciones colegiales profesionales y las sociedades científicas deben contribuir a facilitar el camino del desarrollo profesional y a la Administración sanitaria le corresponde ser valedora y garante en todo el proceso (AU)


Re-accreditation consists in certifying the renewal of specific competencies of qualified professionals as mentioned in the health profession management law. The objective is to certify that the professional is qualified to perform a professional exercise in order to guarantee quality healthcare. The professional bodies and scientific societies should contribute by facilitating the continuing professional development, and the Health Administration should be responsible for guaranteeing the whole process (AU)


Assuntos
Humanos , Certificação/organização & administração , Certificação/normas , Técnicas de Laboratório Clínico/normas , Bioquímica/normas , Serviços de Laboratório Clínico/normas , Bioquímica/organização & administração , Testes de Química Clínica/normas
16.
Clin Chem Lab Med ; 47(12): 1461-5, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19863300

RESUMO

BACKGROUND: The use of laboratory tests has been increasing in recent years due to various factors affecting laboratories, physicians, legal aspects, or patients themselves. METHODS: The efficacy of laboratory tests must be evaluated on the basis of the clinical benefits that they provide in terms of prevention, diagnosis, follow-up, or treatment; with the aim of optimizing health results in general. RESULTS: There are techniques that can be used to determine the clinical validity of the efficacy, effectiveness, and safety of treatment or preventive measures performed on individuals with abnormal tests, as well as providing an economic evaluation of the process. Once the test is incorporated into clinical service, it must be evaluated by retrospective audits in test utilization. To improve the use of laboratory tests, many strategies have been devised that incorporate clinical practice guidelines (CPGs), the conduct of professionals and the patients, and organization of the process. We discuss the importance of the involvement of health professionals. CONCLUSIONS: Strategies in relation to CPGs, conduct of professionals, conduct of patients, or organization of health care processes improve the use of tests in relation to clinical processes. Laboratory professionals have the appropriate knowledge and can improve the quality and efficacy of health care.


Assuntos
Testes de Química Clínica/estatística & dados numéricos , Testes de Química Clínica/economia , Custos e Análise de Custo , Humanos , Guias de Prática Clínica como Assunto
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