Whole-Genome Sequencing in Healthy People.

Recent technological advances have radically changed genetic testing from an expensive and burdensome undertaking to a rapid and less costly option for many purposes. The utility of "next-generation" sequencing has been found to establish the diagnosis for hundreds of genetic disorders, to assess pharmacogenomic variants, and to identify treatable targets within malignant neoplasms. The ready availability of genomic information has led to the question of whether there would be clinical benefit of sequencing the genome of individuals who are not seeking a diagnosis, that is, genomic screening in generally healthy people, to provide anticipatory insights for their health care. Little research has been conducted in this area. We examine the considerable unresolved scientific and ethical issues encountered when considering whole-genome sequencing of healthy people.

SOCIO-ETHICAL ISSUES IN PERSONALIZED MEDICINE: A SYSTEMATIC REVIEW OF ENGLISH LANGUAGE HEALTH TECHNOLOGY ASSESSMENTS OF GENE EXPRESSION PROFILING TESTS FOR BREAST CANCER PROGNOSIS.

OBJECTIVES: There have been multiple calls for explicit integration of ethical, legal, and social issues (ELSI) in health technology assessment (HTA) and addressing ELSI has been highlighted as key in optimizing benefits in the Omics/Personalized Medicine field. This study examines HTAs of an early clinical example of Personalized Medicine (gene expression profile tests [GEP] for breast cancer prognosis) aiming to: (i) identify ELSI; (ii) assess whether ELSIs are implicitly or explicitly addressed; and (iii) report methodology used for ELSI integration. METHODS: A systematic search for HTAs (January 2004 to September 2012), followed by descriptive and qualitative content analysis. RESULTS: Seventeen HTAs for GEP were retrieved. Only three (18%) explicitly presented ELSI, and only one reported methodology. However, all of the HTAs included implicit ELSI. Eight themes of implicit and explicit ELSI were identified. "Classical" ELSI including privacy, informed consent, and concerns about limited patient/clinician genetic literacy were always presented explicitly. Some ELSI, including the need to understand how individual patients' risk tolerances affect clinical decision-making after reception of GEP results, were presented both explicitly and implicitly in HTAs. Others, such as concern about evidentiary deficiencies for clinical utility of GEP tests, occurred only implicitly. CONCLUSIONS: Despite a wide variety of important ELSI raised, these were rarely explicitly addressed in HTAs. Explicit treatment would increase their accessibility to decision-makers, and may augment HTA efficiency maximizing their utility. This is particularly important where complex Personalized Medicine applications are rapidly expanding choices for patients, clinicians and healthcare systems.

Capacidad para aportar y solicitar apoyo emocional en las relaciones de pareja en relación con los perfiles de apego / Ability to provide and request emotional support in affective rela-tionships, in accordance with attachment profiles

El objetivo de esta investigación consistió en estudiar diferencias de género en la capacidad de aportar (posición de soporte) y solicitar (posición de dependencia) apoyo emocional en las relaciones de pareja en función de los perfiles de apego. Para ello se analizaron estas capacidades en el seno de la pareja, considerando que éstas están integradas en el sistema de cuidados. Se trata de conocer en qué medida estas capacidades dependen de los contenidos de género atribuidos a la variable sexo, o a los perfiles de apego. En este estudio participaron 125 personas, mujeres y varones, comprendidos entre 22 y 65 años que en el momento de la investigación convivían de modo estable con sus parejas. Los resultados obtenidos confirmaron que la tendencia a la evitación interfiere en las capacidades de soporte y dependencia en ambos sexos. Sin embargo, la ansiedad fue modulada por la variable sexo de modo que se encontraron diferencias significativas entre mujeres y varones respecto a las variables estudiadas. El presente estudio aporta evidencias acerca del interés de combinar las variables ansiedad y evitación para obtener grupos que representen categorías de apego. Los análisis derivados de ello matizan considerablemente los resultados de modo que los hombres altamente ansiosos cuidan tanto como las mujeres, siempre y cuando el nivel de evitación sea bajo. Sin embargo en el grupo de mujeres ansiosas, la elevada evitación no inhibe los cuidados. Estos resultados sugieren el interés de profundizar en el estudio de las características psicológicas del perfil denominado "evitativo-miedoso", determinado por las personas que muestran puntuaciones elevadas tanto en evitación como en ansiedad (AU)

The aim of this study was to analyze gender differences in the ability to provide (support position) and request (dependence position) emotional support in affective relationships, in accordance with attachment profiles. These abilities were analyzed, as they are considered to form part of the caregiving system within couple relationships. The aim was to determine the extent to which these abilities depend on gender contents attributed to the sex variable or to attachment profiles. Hundred and twenty five women and men, aged between 22 and 65 participated in this study, who at the time of research had a stable couple relationship. Results obtained confirmed that tendency to avoidance interfered in support and dependency abilities, in both, men and women. Anxiety, however, was modulated by gender, as significant differences were found between women and men in the studied variables. This study provides evidence about the importance of combining anxiety and avoidance variables to obtain groups that represent attachment categories. Analysis with categories clarified notably previous results, as it was found that highly anxious men provided care as much as women, as long as avoidance levels were low. Nevertheless, in the anxious women group, high levels of avoidance did not inhibit caregiving. Results from this study suggest the need of studying more the psychological features of the avoidant-fearful profile, formed by people with high scores in anxiety and avoidance (AU)

Estudios farmacogenéticos: guía de evaluación para comités éticos de investigación clínica. Fundamentos científicos y marco legal (I) / Pharmacogenetic studies: evaluation guidelines for research ethics committees. Scientific background and legal framework (I)

No disponible