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Resumen En las ultimas decadas ha habido grandes avances en los tratamientos personalizados en pacientes oncologicos gracias a un importante desarrollo cientifico. El analisis genomico ha mostrado que tumores que parecian tener un origen comun, en realidad constituyen un grupo de diversas entidades moleculares. Por otro lado, ha sido muy importante el desarrollo de farmacos dirigidos que actuan de forma especifica en las rutas bioquimicas involucradas en el proceso oncologico. El conocimiento de la biologia celular y molecular del cancer ha hecho posible identificar los mecanismos responsables de la transformacion maligna y esta permitiendo utilizar nuevos marcadores de especial utilidad para definir el pronostico y determinar el tratamiento de las enfermedades oncologicas.

Resumen La medicina personalizada, medicina de precision o medicina individualizada ha sido definida como una manera de abordar el tratamiento y la prevencion de las enfermedades en base a la variabilidad genetica, 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 especifico, con el fin de aplicar el seguimiento y tratamiento mas adecuado a cada paciente. La implementacion de los procesos asociados a la Medicina Personalizada implica que los profesionales de laboratorio se enfrenten a una tecnologia muy avanzada y poco conocida y a la dificultad de interpretacion de los hallazgos, especialmente la valoracion de su significacion clinica. En este articulo se revisa la situacion actual de la Medicina Personalizada, la funcion del laboratorio dentro de la misma y los retos que se deben afrontar.

EnglishIntroduction: precision medicine (PM) has become a reality in clinical practice, however implementation of this approach is challenging due to their novelty and the highly-specialized knowledge required. Our aim is to describe the situation of PM in clinical laboratories in Spain by reporting the results of a survey addressed to Laboratory Medicine specialists. Materials and methods: the survey was created by the PM Committee of the Spanish Association of Medical Biopathology-Laboratory Medicine (AEBM-ML). The questionnaire was designed to assess several aspects of PM, mainly: knowledge, specific training, implementation in clinical practice and role of the clinical laboratory. Some survey results were analysed statistically employing Chi-square and Fisher’s exact tests. Results: a total of 113 responses were received from 68 different hospitals/clinics, 77.9 % from staff and 22.1 % from residents in training. Among those who had ever heard of PM, 84.9 % knew the concept of PM, but almost half of them did not know whether PM tests were incorporated into clinical guidelines in their centres and had never received any PM training. In 23 centres (33.8 %), an own PM portfolio was developed. In them, almost 40 % of the respondents stated that laboratory specialists have no role in management of PM tests, and that they do not participate or know about their participation in PM research projects. Conclusions: although PM is a well-known concept among laboratory professionals, our survey shows that they have a limited role in implementing PM tests. EnglishIntroduccion: la medicina de precision (MP) es una realidad en la practica clinica, aunque su implementacion supone un reto pues requiere un conocimiento altamente especializado. Nuestro objetivo es describir la situacion de la MP en los laboratorios clinicos espanoles mediante la descripcion de los resultados de una encuesta dirigida a especialistas en Medicina de Laboratorio. Material y metodos: la encuesta fue creada por el Comite de MP de la Asociacion Espanola de Biopatologia Medica - Medicina de Laboratorio (AEBM-ML) y disenada para evaluar varios aspectos de la MP: conocimiento, formacion, implementacion en practica clinica y papel del laboratorio clinico. Algunos resultados fueron analizados estadisticamente con los test chi-cuadrado y exacto de Fisher. Resultados: se recibieron 113 respuestas de 68 hospitales/clinicas diferentes, un 77,9 % de especialistas y un 22,1 % de residentes. Entre los que senalaron haber oido sobre MP, un 84,9 % conocia el concepto. No obstante, casi un 50 % desconocian si las pruebas de MP estaban incorporadas en guias clinicas y un porcentaje similar no habian recibido nunca formacion en MP. En 23 centros (33,8 %), existe una cartera propia de MP. En ellos, en torno a un 40 % de los participantes afirmo que los especialistas del laboratorio clinico no tienen un papel en la supervision de pruebas de MP ni tampoco participan (o desconocen su participacion) en proyectos de investigacion en MP. Conclusiones: aunque el concepto de MP es ampliamente conocido entre los profesionales del laboratorio clinico, nuestra encuesta muestra que su papel es limitado en la implementacion de pruebas de MP.

Single nucleotide polymorphisms associated with lipid metabolism and energy balance are implicated in the weight loss response caused by nutritional interventions. Diet‑induced weight loss is also associated with differential global DNA methylation. DNA methylation has been proposed as a predictive biomarker for weight loss response. Personalized biomarkers for successful weight loss may inform clinical decisions when deciding between behavioral and surgical weight loss interventions. The aim of the present study was to investigate the association between global DNA methylation, genetic variants associated with energy balance and lipid metabolism, and weight loss following a non‑surgical weight loss regimen. The present study included 105 obese participants that were enrolled in a personalized weight loss program based on their allelic composition of the following five energy balance and lipid metabolism‑associated loci: Near insulin‑induced gene 2 (INSIG2); melanocortin 4 receptor; adrenoceptor β2; apolipoprotein A5; and G‑protein subunit β3. The present study investigated the association between a global DNA methylation index (GDMI), the allelic composition of the five energy balance and lipid metabolism‑associated loci, and weight loss during a 12 month program, after controlling for age, sex and body mass index (BMI). The results demonstrated a significant association between the GDMI and near INSIG2 locus, after adjusting for BMI and weight loss, and significant trends were observed when stratifying by gender. In conclusion, a combination of genetic and epigenetic biomarkers may be used to design personalized weight loss interventions, enabling adherence and ensuring improved outcomes for obesity treatment programs. Precision weight loss programs designed based on molecular information may enable the creation of personalized interventions for patients, that use genomic biomarkers for treatment design and for treatment adherence monitoring, thus improving response to treatment.

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.

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.

Resumen Con el fin de mejorar la atencion y el seguimiento de la pareja con alteraciones en la reproduccion, varias asociaciones cientificas y expertos han desarrollado las recomendaciones especificas para el estudio genetico en la evaluacion de los trastornos de la reproduccion. Siempre se debe garantizar un asesoramiento genetico apropiado a la pareja, tanto antes como despues del estudio genetico. Las pruebas geneticas se han clasificado como pruebas altamente recomendables, recomendables u opcionales dependiendo de que su resultado modifique el pronostico. La indicacion de las pruebas geneticas en la mujer con alteraciones en la reproduccion se ha clasificado basandose en la historia clinica personal y familiar y puede abarcar el cariotipo en sangre periferica, el estudio molecular de CFTR, de X fragil, del factor II, del factor V y de MTHRF. Respecto a los varones con alteraciones en la reproduccion, cualquier estudio genetico debe de ir precedido por un estudio andrologico, que debe incluir al menos una historia clinica personal, familiar y el analisis de semen. Se puede indicar el cariotipo en sangre periferica, el estudio molecular de CFTR, las microdeleciones en el cromosoma Y, la hibridacion fluorescente in situ en espermatozoides, el estudio de meiosis en tejido testicular y la fragmentacion del ADN.