Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

Policy makers have suggested that information about genetic risk factors, which are associated with low risk and for which preventive strategies exist, should not be considered “exceptional” and should not warrant special safeguards, such as data protection or specialist pre-test counselling. There is scant research on how such risk factors are perceived, and to explore this we conducted qualitative interviews with 42 participants who had undergone testing in the South West of England for a low risk genetic susceptibility to deep vein thrombosis (DVT). Generally the participants, who were mostly women, thought the test was less serious than a genetic test for a predisposition to breast cancer or a non-genetic, diagnostic test for diabetes. They had used the genetic information to reduce their risk of DVTs by avoiding oral contraceptives and hormone replacement therapy but had not changed their lifestyle. Many considered pre-test genetic counselling unnecessary. However, a subgroup of participants, who were often less educated or at a high risk, were distressed and/or confused about thrombophilia and thought pre-test counselling would have been helpful. The findings indicate an emerging interpretation of genetics not as revealing exceptional or “in depth” knowledge about one's health and identity but as occasionally relevant surface information, which participants use to make specific health decisions but not to transform their everyday lives. However, the views of the subgroup indicate that some participants interpret thrombophilia as serious and/or need special support

Self-reported quality of care for older adults from 2004 to 2011: a cohort study

Background: little is known about changes in the quality of medical care for older adults over time. Objective: to assess changes in technical quality of care over 6 years, and associations with participants' characteristics. Design: a national cohort survey covering RAND Corporation-derived quality indicators (QIs) in face-to-face structured interviews in participants' households. Participants: a total of 5,114 people aged 50 or more in four waves of the English Longitudinal Study of Ageing. Methods: the percentage achievement of 24 QIs in 10 general medical and geriatric clinical conditions was calculated for each time point, and associations with participants' characteristics were estimated using logistic regression. Results: participants were eligible for 21,220 QIs. QI achievement for geriatric conditions (cataract, falls, osteoarthritis and osteoporosis) was 41% [95% confidence interval (CI): 38–44] in 2004–05 and 38% (36–39) in 2010–11. Achievement for general medical conditions (depression, diabetes mellitus, hypertension, ischaemic heart disease, pain and cerebrovascular disease) improved from 75% (73–77) in 2004–05 to 80% (79–82) in 2010–11. Achievement ranged from 89% for cerebrovascular disease to 34% for osteoarthritis. Overall achievement was lower for participants who were men, wealthier, infrequent alcohol drinkers, not obese and living alone. Conclusion: substantial system-level shortfalls in quality of care for geriatric conditions persisted over 6 years, with relatively small and inconsistent variations in quality by participants' characteristics. The relative lack of variation by participants' characteristics suggests that quality improvement interventions may be more effective when directed at healthcare delivery systems rather than individuals

Implementing telephone triage in general practice: a process evaluation of a cluster randomised controlled trial

Background: Telephone triage represents one strategy to manage demand for face-to-face GP appointments in primary care. However, limited evidence exists of the challenges GP practices face in implementing telephone triage. We conducted a qualitative process evaluation alongside a UK-based cluster randomised trial (ESTEEM) which compared the impact of GP-led and nurse-led telephone triage with usual care on primary care workload, cost, patient experience, and safety for patients requesting a same-day GP consultation. The aim of the process study was to provide insights into the observed effects of the ESTEEM trial from the perspectives of staff and patients, and to specify the circumstances under which triage is likely to be successfully implemented. Here we report perspectives of staff. Methods: The intervention comprised implementation of either GP-led or nurse-led telephone triage for a period of 2-3 months. A qualitative evaluation was conducted using staff interviews recruited from eight general practices (4 GP triage, 4 Nurse triage) in the UK, implementing triage as part of the ESTEEM trial. Qualitative interviews were undertaken with 44 staff members in GP triage and nurse triage practices (16 GPs, 8 nurses, 7 practice managers, 13 administrative staff). Results: Staff reported diverse experiences and perceptions regarding the implementation of telephone triage, its effects on workload, and on the benefits of triage. Such diversity were explained by the different ways triage was organised, the staffing models used to support triage, how the introduction of triage was communicated across practice staff, and by how staff roles were reconfigured as a result of implementing triage. Conclusion: The findings from the process evaluation offer insight into the range of ways GP practices participating in ESTEEM implemented telephone triage, and the circumstances under which telephone triage can be successfully implemented beyond the context of a clinical trial. Staff experiences and perceptions of telephone triage are shaped by the way practices communicate with staff, prepare for and sustain the changes required to implement triage effectively, as well as by existing practice culture, and staff and patient behaviour arising in response to the changes made. Trial registration: Current Controlled Trials ISRCTN20687662. Registered 28 May 2009

Is volunteering a public health intervention? A systematic review and meta-analysis of the health and survival of volunteers

Background Volunteering has been advocated by the United Nations, and American and European governments as a way to engage people in their local communities and improve social capital, with the potential for public health benefits such as improving wellbeing and decreasing health inequalities. Furthermore, the US Corporation for National and Community Service Strategic Plan for 2011–2015 focused on increasing the impact of national service on community needs, supporting volunteers’ wellbeing, and prioritising recruitment and engagement of underrepresented populations. The aims of this review were to examine the effect of formal volunteering on volunteers’ physical and mental health and survival, and to explore the influence of volunteering type and intensity on health outcomes. Methods Experimental and cohort studies comparing the physical and mental health outcomes and mortality of a volunteering group to a non-volunteering group were identified from twelve electronic databases (Cochrane Library, Medline, Embase, PsychINFO, CINAHL, ERIC, HMIC, SSCI, ASSIA, Social Care Online, Social Policy and Practice) and citation tracking in January 2013. No language, country or date restrictions were applied. Data synthesis was based on vote counting and random effects meta-analysis of mortality risk ratios. Results Forty papers were selected: five randomised controlled trials (RCTs, seven papers); four non-RCTs; and 17 cohort studies (29 papers). Cohort studies showed volunteering had favourable effects on depression, life satisfaction, wellbeing but not on physical health. These findings were not confirmed by experimental studies. Meta-analysis of five cohort studies found volunteers to be at lower risk of mortality (risk ratio: 0.78; 95% CI: 0.66, 0.90). There was insufficient evidence to demonstrate a consistent influence of volunteering type or intensity on outcomes. Conclusion Observational evidence suggested that volunteering may benefit mental health and survival although the causal mechanisms remain unclear. Consequently, there was limited robustly designed research to guide the development of volunteering as a public health promotion intervention. Future studies should explicitly map intervention design to clear health outcomes as well as use pragmatic RCT methodology to test effects

Telephone triage for management of same-day consultation requests in general practice (the ESTEEM trial): A cluster-randomised controlled trial and cost-consequence analysis

Telephone triage is increasingly used to manage workload in primary care; however, supporting evidence for this approach is scarce. We aimed to assess the effectiveness and cost consequences of general practitioner-(GP)-led and nurse-led telephone triage compared with usual care for patients seeking same-day consultations in primary care

Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.

BACKGROUND: Osteoporosis is a common and debilitating bone disease that is characterised by a low bone mineral density (BMD), a highly heritable trait. Genome-wide association studies (GWAS) have proven to be very successful in identifying common genetic variants associated with BMD adjusted for age, gender and weight, however a large portion of the genetic variance for this trait remains unexplained. There is evidence to suggest significant genetic correlation between body size traits and BMD. It has also recently been suggested that unintended bias can be introduced as a result of adjusting a phenotype for a correlated trait. We performed a GWAS meta-analysis in two populations (total n = 6,696) using BMD data adjusted for only age and gender, in an attempt to identify genetic variants associated with BMD including those that may have potential pleiotropic effects on BMD and body size traits. RESULTS: We observed a single variant, rs2566752, associated with spine BMD at the genome-wide significance level in the meta-analysis (P = 3.36 × 10(-09)). Logistic regression analysis also revealed an association between rs2566752 and fracture rate in one of our study cohorts (P = 0.017, n = 5,654). This is an intronic variant located in the wntless Wnt ligand secretion mediator (WLS) gene (1p31.3), a known BMD locus which encodes an integral component of the Wnt ligand secretion pathway. Bioinformatics analyses of variants in moderate LD with rs2566752 produced strong evidence for a regulatory role for the variants rs72670452, rs17130567 and rs1430738. Expression quantitative trait locus (eQTL) analysis suggested that the variants rs12568456 and rs17130567 are associated with expression of the WLS gene in whole blood, cerebellum and temporal cortex brain tissue (P = 0.034-1.19 × 10(-23)). Gene-wide association testing using the VErsatile Gene-based Association Study 2 (VEGAS2) software revealed associations between the coiled-coil domain containing 170 (CCDC170) gene, located adjacent to the oestrogen receptor 1 (ESR1) gene, and BMD at the spine, femoral neck and total hip sites (P = 1.0 × 10(-06), 2.0 × 10(-06) and 2.0 × 10(-06) respectively). CONCLUSIONS: Genetic variation at the WLS and CCDC170/ESR1 loci were found to be significantly associated with BMD adjusted for only age and gender at the genome-wide level in this meta-analysis

The effect of nurses' preparedness and nurse practitioner status on triage call management in primary care: a secondary analysis of cross-sectional data from the ESTEEM Trial

Background: Nurse-led telephone triage is increasingly used to manage demand for GP consultations in UK general practice. Previous studies are equivocal about the relationship between clinical experience and the call outcomes of nurse triage. Most research is limited to investigating nurse telephone triage in out-of-hours settings. Objective: To investigate whether the professional characteristics of primary care nurses undertaking computer decision supported software telephone triage are related to call disposition. Design: Questionnaire survey of nurses delivering the nurse intervention arm of the ESTEEM trial, to capture role type (practice nurse or nurse practitioner), prescriber status, number of years’ nursing experience, graduate status, previous experience of triage, and perceived preparedness for triage. Our main outcome was the proportion of triaged patients recommended for follow-up within the practice (call disposition), including all contact types (face-to-face, telephone or home visit), by a GP or nurse. Settings: : 15 General Practices and 7012 patients receiving the nurse triage intervention in four regions of the U.K. Participants: : 45 Nurse Practitioners (NPs) and Practice Nurse (PNs) trained in the use of CDSS. Methods: We investigated the associations between nursing characteristics and triage call disposition for patient ‘same-day’ appointment requests in general practice using multivariable logistic regression modelling. Results: Valid responses from 35 nurses (78%) from 14 practices: 31/35 (89%) had ≥10 years’ experience with 24/35 (69%) having ≥20 years. Most patient contacts (3842/4605; 86%) were recommended for follow-up within the practice. Nurse practitioners were less likely to recommend patients for follow-up odds ratio (OR) 0.19, 95% confidence interval (CI) 0.07; 0.49 than practice nurses. Nurses who reported that their previous experience had prepared them less well for triage were more likely to recommend patients for follow-up (OR 3.17, 95% CI 1.18; 5.55). Conclusion: Nurse characteristics were associated with disposition of triage calls to within practice follow-up. Nurse practitioners or those who reported feeling ‘more prepared’ for the role were more likely to manage the call definitively. Practices considering nurse triage should ensure that nurses transitioning into new roles feel adequately prepared. While standardised training is necessary, it may not be sufficient to ensure successful implementation

Investigating causality in the association between 25(OH)D and schizophrenia.

Vitamin D deficiency is associated with increased risk of schizophrenia. However, it is not known whether this association is causal or what the direction of causality is. We performed two sample bidirectional Mendelian randomization analysis using single nucleotide polymorphisms (SNPs) robustly associated with serum 25(OH)D to investigate the causal effect of 25(OH)D on risk of schizophrenia, and SNPs robustly associated with schizophrenia to investigate the causal effect of schizophrenia on 25(OH)D. We used summary data from genome-wide association studies and meta-analyses of schizophrenia and 25(OH)D to obtain betas and standard errors for the SNP-exposure and SNP-outcome associations. These were combined using inverse variance weighted fixed effects meta-analyses. In 34,241 schizophrenia cases and 45,604 controls, there was no clear evidence for a causal effect of 25(OH)D on schizophrenia risk. The odds ratio for schizophrenia per 10% increase in 25(OH)D conferred by the four 25(OH)D increasing SNPs was 0.992 (95% CI: 0.969 to 1.015). In up to 16,125 individuals with measured serum 25(OH)D, there was no clear evidence that genetic risk for schizophrenia causally lowers serum 25(OH)D. These findings suggest that associations between schizophrenia and serum 25(OH)D may not be causal. Therefore, vitamin D supplementation may not prevent schizophrenia.AET, JJW, SHG and MRM are members of the UK Centre for Tobacco and Alcohol Studies, a UK Clinical Research Council Public Health Research: Centre of Excellence. Funding from British Heart Foundation, Cancer Research UK, Economic and Social Research Council, Medical Research Council, and the National Institute for Health Research, under the auspices of the UK Clinical Research Collaboration, is gratefully acknowledged. Support from the Medical Research Council (MC_UU_12013/1, MC_UU_12013/6) is also gratefully acknowledged. SB is supported by the Wellcome Trust (grant number 100114). JJW is supported by a Post-Doctoral Research Fellowship from the Oak Foundation. The authors declare no conflict of interest.This is the author accepted manuscript. It is currently under an indefinite embargo pending publication by Nature Publishing Group

Genes Suggest Ancestral Colour Polymorphisms Are Shared across Morphologically Cryptic Species in Arctic Bumblebees

email Suzanne orcd idCopyright: © 2015 Williams et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited