Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome

Next generation sequencing (NGS) gene panels are increasingly used in medical genetics clinics for the evaluation of common inherited cancer syndromes, but the clinical efficacy of these tests, and the factors driving clinical providers to order them are unclear. We conducted a patterns-of-care study to compare patients evaluated with NGS gene panels with a reference group. We abstracted demographic, socioeconomic, and clinical information in a retrospective cohort of patients referred to a large medical genetics clinic for evaluation of inherited colorectal cancer and polyposis syndromes. Patients tested with NGS gene panels were more likely to be insured compared to the reference group (85.3 % vs. 69.2 %, p = 0.0068),less likely to have prior tumor tissue testing (29.4 % vs. 54.3 %, p = 0.0004), and less likely to have an abnormal tumor tissue test result (46.7 % vs. 74.5 %, p = 0.01). No significant differences were found between groups in age, gender, race, employment status, personal history of colorectal cancer, or proportion of patients fulfilling Lynch syndrome clinical criteria. Patients with NGS testing were less likely to have a pathogenic/likely pathogenic variant detected (13.7 % vs. 31.9 %, p = 0.002). Patients referred for NGS testing to evaluate inherited colorectal cancer/polyposis risk appear to undergo tumor tissue testing less frequently than non-NGS testing patients. Further studies are needed to assess the most effective and cost-effective approach to genomic diagnosis in this patient population.     

Evidence from the eyes: Threatening postures hold attention

Efficient detection of threat provides obvious survival advantages and has resulted in a fast and accurate threat-detection system. Although beneficial under normal circumstances, this system may become hypersensitive and cause threat-processing abnormalities. Past research has shown that anxious individuals have difficulty disengaging attention from threatening faces, but it is unknown whether other forms of threatening social stimuli also influence attentional orienting. Much like faces, human body postures are salient social stimuli, because they are informative of one’s emotional state and next likely action. Additionally, postures can convey such information in situations in which another’s facial expression is not easily visible. Here we investigated whether there is a threat-specific effect for high-anxious individuals, by measuring the time that it takes the eyes to leave the attended stimulus, a task-irrelevant body posture. The results showed that relative to nonthreating postures, threat-related postures hold attention in anxious individuals, providing further evidence of an anxiety-related attentional bias for threatening information. This is the first study to demonstrate that attentional disengagement from threatening postures is affected by emotional valence in those reporting anxiety.     

Cultural differences in body dissatisfaction: Japanese adolescents compared with adolescents from China,Malaysia, Australia,Tonga, and Fiji

Cultural influences on the body image of 133 female and 99 male Japanese adolescents aged 12–18 years (M = 15.9, SD = 1.2) were compared to those of a databank of 1233 female and 1149 male adolescents also aged 12–18 years (M = 14.9, SD = 1.5) from five cultures – Chinese, Malaysian, Australian, Tongan, and indigenous Fijian – surveyed previously using identical body image measures (Fuller‐Tyszkiewicz et al., 2012). Japanese adolescents reported the highest levels of body dissatisfaction despite possessing among the lowest body mass index (BMI) and also reported among the highest levels of media influence on their body image. Subsequent path analyses revealed that for Japanese adolescents cultural identification with modern Japanese values were associated with increased body dissatisfaction, and that this association was mediated by level of media influence. These results highlight the importance of cultural influences, as well as individual differences in cultural values, in shaping Japanese adolescents' body image.     

Health (care) and human rights: a fundamental conditions approach

Many international declarations state that human beings have a human right to health care. However, is there a human right to health care? What grounds this right, and who has the corresponding duties to promote this right? Elsewhere, I have argued that human beings have human rights to the fundamental conditions for pursuing a good life. Drawing on this fundamental conditions approach of human rights, I offer a novel way of grounding a human right to health care.     

The Psychometric Equivalence of the Personal Wellbeing Index for Normally Functioning and Homeostatically Defeated Australian Adults

Understanding subjective wellbeing (SWB) at the population level has major implications for governments and policy makers concerned with enhancing the life quality of citizens. The Personal Wellbeing Index (PWI) is a measure of SWB with theoretical and empirical credentials. Homeostasis theory offers an explanation for the nature of SWB data, including the distribution of scores, maintenance and change over time. According to this theory, under normal conditions, the dominant constituent of SWB is Homeostatically Protected Mood (HPMood), which is held within a genetically determined range of values around a set-point. However, in extreme circumstances (e.g., financial hardship, chronic illness), HPMood may dissociate from SWB, as cognitive/emotional reactions to the cause of homeostatic challenge assume control over SWB. This study investigates two groups as people scoring in the positive range for SWB and people who are likely to be experiencing homeostatic defeat/challenge. We test whether the reduced influence of HPMood on SWB due to homeostatic defeat has implications for the validity of SWB measurement. Participants were 45,192 adults (52 % female), with a mean age of 48.88 years (SD = 17.35 years), who participated in the first 23 surveys of the Australian Unity Wellbeing Index over the years 2001–2010. Multiple regression analysis, multiple group confirmatory factor analysis, and Rasch modelling techniques were used to evaluate the psychometric performance of the PWI across the two groups. Results show that while the PWI functioned as intended for the normal group, SWB in the challenged group was lower across all PWI domains, more variable, and the domain scores lacked the strength of inter-correlation observed in the normal, comparison group. These changes are consistent with predictions based on homeostasis theory and one major implication of the findings is that SWB measures may not function equivalently across the entire spectrum of possible domain satisfaction scores.     

The frequency of actions and thoughts scale: development and psychometric validation of a measure of adaptive behaviours and cognitions

This paper describes the development and preliminary psychometric evaluation of an instrument that measures the frequency of adaptive behaviours and cognitions related to therapeutic change during cognitive behavioural therapy (CBT), for symptoms of anxiety and depression. Two studies were conducted. In study one, 661 participants completed an online survey with 28 items targeting adaptive behaviours and cognitions. Exploratory factor analysis performed on part of the sample (n = 451) revealed that a four-factor solution ‘characterised’ the data. This led to the development of a 12-item instrument, the Frequency of Actions and Thoughts Scale (FATS). Confirmatory factor analysis was used to confirm the factor structure of the FATS using the remaining sample (n = 210), which revealed an acceptable model fit. In study two, 125 participants with clinically significant symptoms of anxiety, depression, or both were recruited to an Internet-delivered CBT (iCBT) treatment course. Participants completed the FATS and other measures throughout treatment, after treatment, and at three-month follow-up. Correlations and residual change scores of the FATS and its subscales with measures of anxiety, depression, behavioural activation, and CBT-related skills usage supported the construct validity of the FATS. A significant increase in FATS scores over treatment was also observed. The findings provide preliminary support for the psychometric properties of the FATS, which appears to have utility in research investigating mechanisms of change in CBT.