Healthcare professionals’ perceptions of risk in the context of genetic testing for the prediction of chronic disease: a qualitative metasynthesis

Advances in genomic technologies and a growing trend towards stratified and preventive approaches to medicine mean that increasing numbers of individuals may have access to information about their genetic makeup, and their risk of developing diseases. This is likely to impact on healthcare professionals involved in the delivery of genetic tests, or in supporting patients who are affected by a disease with a genetic risk factor. It is therefore important to understand health-care professionals’ perceptions about providing these services, and how they feel about communicating information about genetic risk to patients. This paper provides a systematic review and metasynthesis of qualitative research exploring healthcare professionals’ perceptions of genetic risk in the context of predictive genetic testing for chronic disease. Healthcare professionals expressed a range of reservations about the utility of predictive testing in this context. Professionals judged patients’ understanding of risk information to be limited and subject to bias and a range of sociocultural influences. Concerns about the psychosocial impact of genetic risk information were frequently cited, both in relation to individual patients and the wider impact on their families and communities. The need for provision of multidisciplinary support was described. The concept of responsibility was also an important theme. Healthcare professionals recognized the responsibility that accompanies risk knowledge, and that ultimately this responsibility lies with the patient, not the provider. Our analysis suggests that professionals’ evaluation of the utility of predictive genetic testing is influenced not only by resource deficits, but may also be interpreted as a response to challenging ethical and social issues associated with genetic risk, that are not well aligned with current medical practice

Multi-dimensional modelling of X-ray spectra for AGN accretion-disk outflows III: application to a hydrodynamical simulation

We perform multi-dimensional radiative transfer simulations to compute spectra for a hydrodynamical simulation of a line-driven accretion disk wind from an active galactic nucleus. The synthetic spectra confirm expectations from parameterized models that a disk wind can imprint a wide variety of spectroscopic signatures including narrow absorption lines, broad emission lines and a Compton hump. The formation of these features is complex with contributions originating from many of the different structures present in the hydrodynamical simulation. In particular, spectral features are shaped both by gas in a successfully launched outflow and in complex flows where material is lifted out of the disk plane but ultimately falls back. We also confirm that the strong Fe Kalpha line can develop a weak, red-skewed line wing as a result of Compton scattering in the outflow. In addition, we demonstrate that X-ray radiation scattered and reprocessed in the flow has a pivotal part in both the spectrum formation and determining the ionization conditions in the wind. We find that scattered radiation is rather effective in ionizing gas which is shielded from direct irradiation from the central source. This effect likely makes the successful launching of a massive disk wind somewhat more challenging and should be considered in future wind simulations.Comment: 14 pages, 8 figures. Accepted for publication by MNRA

Young women's responses to smoking and breast cancer risk information

Current evidence confirms that young women who smoke or who have regular long-term exposure to secondhand smoke (SHS) have an increased risk of developing premenopausal breast cancer. The aim of this research was to examine the responses of young women to health information about the links between active smoking and SHS exposure and breast cancer and obtain their advice about messaging approaches. Data were collected in focus groups with 46 women, divided in three age cohorts: 15–17, 18–19 and 20–24 and organized according to smoking status (smoking, non-smoking and mixed smoking status groups). The discussion questions were preceded by information about passive and active smoking and its associated breast cancer risk. The study findings show young women's interest in this risk factor for breast cancer. Three themes were drawn from the analysis: making sense of the information on smoking and breast cancer, personal susceptibility and tobacco exposure and suggestions for increasing awareness about tobacco exposure and breast cancer. There was general consensus on framing public awareness messages about this risk factor on ‘protecting others’ from breast cancer to catch smokers’ attention, providing young women with the facts and personal stories of breast cancer to help establish a personal connection with this information and overcome desensitization related to tobacco messages, and targeting all smokers who may place young women at risk. Cautions were also raised about the potential for stigmatization. Implications for raising awareness about this modifiable risk factor for breast cancer are discussed

Breast cancer awareness and barriers to symptomatic presentation among women from different ethnic groups in East London

BACKGROUND: During 2001 to 2005, 1-year breast cancer survival was low in ethnically diverse East London. We hypothesised that this was due to low breast cancer awareness and barriers to symptomatic presentation, leading to late stage at diagnosis in women from ethnic minorities. We examined ethnic differences in breast cancer awareness and barriers to symptomatic presentation in East London. METHODS: We carried out a population-based survey of 1515 women aged 30+ using the Cancer Research UK Breast Cancer Awareness Measure. We analysed the data using logistic regression adjusting for age group and level of deprivation. RESULTS: South Asian and black women had lower breast cancer awareness than white women. South Asian women, but not black women, reported more emotional barriers to seeking medical help than white women. White women were more likely than non-white women to report worry about wasting the doctor's time as a barrier to symptomatic presentation. CONCLUSION: Interventions to promote early presentation of breast cancer for South Asian and black women should promote knowledge of symptoms and skills to detect changes, and tackle emotional barriers to symptomatic presentation and for white women tackle the idea that going to the doctor to discuss a breast symptom will waste the doctor's time

Patient and family involvement in adult critical and intensive care settings : a scoping review

BACKGROUND: Despite international bodies calling for increased patient and family involvement, these concepts remain poorly defined within literature on critical and intensive care settings. OBJECTIVE: This scoping review investigates the extent and range of literature on patient and family involvement in critical and intensive care settings. Methodological and empirical gaps are identified, and a future agenda for research into optimizing patient and family involvement is outlined. METHODS: Searches of MEDLINE, CINAHL, Social Work Abstracts and PsycINFO were conducted. English‐language articles published between 2003 and 2014 were retrieved. Articles were included if the studies were undertaken in an intensive care or critical care setting, addressed the topic of patient and family involvement, included a sample of adult critical care patients, their families and/or critical care providers. Two reviewers extracted and charted data and analysed findings using qualitative content analysis. FINDINGS: A total of 892 articles were screened, 124 were eligible for analysis, including 61 quantitative, 61 qualitative and 2 mixed‐methods studies. There was a significant gap in research on patient involvement in the intensive care unit. The analysis identified five different components of family and patient involvement: (i) presence, (ii) having needs met/being supported, (iii) communication, (iv) decision making and (v) contributing to care. CONCLUSION: Three research gaps were identified that require addressing: (i) the scope, extent and nature of patient involvement in intensive care settings; (ii) the broader socio‐cultural processes that shape patient and family involvement; and (iii) the bidirectional implications between patient/family involvement and interprofessional teamwork

Folliculin regulates mTORC1/2 and WNT pathways in early human pluripotency

The pathways involved in exit from pluripotency in human embryonic stem cells are poorly understood. Here, the authors performed a CRISPR-based screen to identify genes that promote exit from naïve pluripotency and find a role for folliculin (FLCN) by regulating the mTOR and Wnt pathways

Supermassive Black Holes in Galactic Nuclei: Past, Present and Future Research

This review discusses the current status of supermassive black hole research, as seen from a purely observational standpoint. Since the early '90s, rapid technological advances, most notably the launch of the Hubble Space Telescope, the commissioning of the VLBA and improvements in near-infrared speckle imaging techniques, have not only given us incontrovertible proof of the existence of supermassive black holes, but have unveiled fundamental connections between the mass of the central singularity and the global properties of the host galaxy. It is thanks to these observations that we are now, for the first time, in a position to understand the origin, evolution and cosmic relevance of these fascinating objects.Comment: Invited Review, 114 pages. Because of space requirements, this version contains low resolution figures. The full resolution version can be downloaded from http://www.physics.rutgers.edu/~lff/publications.htm

The Lick AGN Monitoring Project: Broad-Line Region Radii and Black Hole Masses from Reverberation Mapping of Hbeta

We have recently completed a 64-night spectroscopic monitoring campaign at the Lick Observatory 3-m Shane telescope with the aim of measuring the masses of the black holes in 12 nearby (z < 0.05) Seyfert 1 galaxies with expected masses in the range ~10^6-10^7 M_sun and also the well-studied nearby active galactic nucleus (AGN) NGC 5548. Nine of the objects in the sample (including NGC 5548) showed optical variability of sufficient strength during the monitoring campaign to allow for a time lag to be measured between the continuum fluctuations and the response to these fluctuations in the broad Hbeta emission. We present here the light curves for the objects in this sample and the subsequent Hbeta time lags for the nine objects where these measurements were possible. The Hbeta lag time is directly related to the size of the broad-line region, and by combining the lag time with the measured width of the Hbeta emission line in the variable part of the spectrum, we determine the virial mass of the central supermassive black hole in these nine AGNs. The absolute calibration of the black hole masses is based on the normalization derived by Onken et al. We also examine the time lag response as a function of velocity across the Hbeta line profile for six of the AGNs. The analysis of four leads to ambiguous results with relatively flat time lags as a function of velocity. However, SBS 1116+583A exhibits a symmetric time lag response around the line center reminiscent of simple models for circularly orbiting broad-line region (BLR) clouds, and Arp 151 shows an asymmetric profile that is most easily explained by a simple gravitational infall model. Further investigation will be necessary to fully understand the constraints placed on physical models of the BLR by the velocity-resolved response in these objects.Comment: 24 pages, 16 figures and 13 tables, submitted to Ap

Locked down apps versus the social media ecology : why do young people and educators disagree on the best delivery platform for digital sexual health entertainment education?

This article reports on focus groups exploring the best way to reach young men with vulgar comedy videos that provide sexual health information. Young people reported that they found the means by which the material was presented - as a locked down app - to be problematic, and that it would better be delivered through social media platforms such as YouTube. This would make it more 'spreadable'. By contrast, adult sex education stakeholders thought the material should be contained within a locked down, stand-alone app - otherwise it might be seen by children who are too young, and/or young people might misunderstand the messages. We argue that the difference in approach represented by these two sets of opinions represents a fundamental stumbling block for attempts to reach young people with digital sexual health materials, which can be understood through the prism of different cultural forms - education versus entertainment