Evaluation of a Heredofamilial Cancer Unit in Increasing Family History Collection and Genetic Counseling Referrals Among Spanish Oncologists at a University Hospital

A comprehensive family history is essential to identify patients at risk for hereditary cancer who could benefit from genetic counseling (GC). In a previous study, we observed a low occurrence of family history record (FHR) collection rate and GC referral among oncologists at our institution. The present work analyzes whether the implementation of a heredofamilial cancer unit (HFCU) would improve these parameters. We retrospectively compared the FHR rate in clinical records, National Cancer Institute (NCI) general criteria for hereditary cancer suspicion, GC referrals and FHR quality in two cohorts: cohort 1 (patients diagnosed before HFCU creation) and cohort 2 (after HFCU creation). Of 1,175 patients (590 cohort 1 and 585 cohort 2), FHRs were consigned in 27.3 % and 52.5 % of patients, respectively (p?<?0.001). The GC referral of patients with any NCI criterion was 13.6 % xin cohort 1 vs. 40.5 % in cohort 2 (p?<?0.001). FHR quality improved in terms of the total number of relatives (164 vs. 314, p?=?0.1, N.S.) and number of healthy relatives consigned (80 vs. 191, p?<?0.01). Nine mutations (6 BRCA, 1 MEN1, 2 Lynch), 4 unknown significance variants (all in BRCA) and 2 with no mutation were identified among patients referred from cohort 2. We conclude that the creation of a heredofamilial cancer unit has changed both FHR and GC referrals among oncologists at our institution, although continuous educational efforts are required.     

Personalized Genomic Results: Analysis of Informational Needs

Use of genomic information in healthcare is increasing; however data on the needs of consumers of genomic information is limited. The Coriell Personalized Medicine Collaborative (CPMC) is a longitudinal study investigating the utility of personalized medicine. Participants receive results reflecting risk of common complex conditions and drug—gene pairs deemed actionable by an external review board. To explore the needs of individuals receiving genomic information we reviewed all genetic counseling sessions with CPMC participants. A retrospective qualitative review of notes from 157 genetic counseling inquiries was conducted. Notes were coded for salient themes. Five primary themes; “understanding risk”, “basic genetics”, “complex disease genetics”, “what do I do now?” and “other” were identified. Further review revealed that participants had difficulty with basic genetic concepts, confused relative and absolute risks, and attributed too high a risk burden to individual single nucleotide polymorphisms (SNPs). Despite these hurdles, counseled participants recognized that behavior changes could potentially mitigate risk and there were few comments alluding to an overly deterministic or fatalistic interpretation of results. Participants appeared to recognize the multifactorial nature of the diseases for which results were provided; however education to understand the complexities of genomic risk information was often needed.     

Temperament and Personal Wellbeing in a Sample of 12 to 16 Year-Old Adolescents

Working on the basis that temperament – understood as the root from which personality traits emerge – is related to subjective wellbeing, a study was conducted on a sample of 1.483 students in compulsory secondary education aged between 12 and 16, half of whom attended schools in a rural or semiurban area and half in an urban setting. The aims of the study were as follows: a) to determine the level of personal wellbeing in a sample of 12 to 16 year-old adolescents measured using scores obtained from the Personal Wellbeing Index (PWI), and b) to analyse the relationship between temperament, measured using the Early Adolescent Temperament Questionnaire (EATQ-R), and personal wellbeing. Results indicate, among other things, that those temperament dimensions which best predict a high level of personal wellbeing are activity level, affiliation, shyness (with a negative weight), inhibitory control and activation control.     

Free actions as a natural kind

Synthese - Do we have free will? Understanding free will as the ability to act freely, and free actions as exercises of this ability, I maintain that the default answer to this question is...     

Disociaciones entre pruebas implícitas y explícitas de memoria: significado e implicaciones teóricas

Resumen

Las disociaciones entre pruebas implícitas y explícitas de memoria se han convertido últimamente en el fenómeno más rico e ilustrativo teóricamente de que la memoria se manifiesta tanto de una forma directa o explícita como de una forma indirecta o implícita. La distinción entre memoria implícita y explícita ha proporcionado un marco teórico y de trabajo extremadamente fructífero para aumentar nuestro conocimiento sobre la naturaleza y arquitectura de la memoria. En este trabajo se presenta una amplia revisión de las disociaciones entre pruebas implícitas y explícitas de memoria, las múltiples variables que las producen, las distintas poblaciones susceptibles de generarlas y las explicaciones más relevantes sobre su significado. De entre estas explicaciones destacan: 1) la que considera que las disociaciones son el resultado de diferentes procesos y 2) la que entiende que reflejan diferentes sistemas de memoria. Entre los proponentes de ambas explicaciones se ha desarrollado un debate que ha llevado a una nueva concepción de la naturaleza y arquitectura del sistema de memoria que da fundamento a los efectos de priming.