The Social Licence for Research:Why care.data Ran Into Trouble

In this article we draw on the concept of a social licence to explain public concern at the introduction of care.data, a recent English initiative designed to extract data from primary care medical records for commissioning and other purposes, including research. The concept of a social licence describes how the expectations of society regarding some activities may go beyond compliance with the requirements of formal regulation; those who do not fulfil the conditions for the social licence (even if formally compliant) may experience ongoing challenge and contestation. Previous work suggests that people's cooperation with specific research studies depends on their perceptions that their participation is voluntary and is governed by values of reciprocity, non-exploitation and service of the public good. When these conditions are not seen to obtain, threats to the social licence for research may emerge. We propose that care.data failed to adequately secure a social licence because of: (i) defects in the warrants of trust provided for care.data, (ii) the implied rupture in the traditional role, expectations and duties of general practitioners, and (iii) uncertainty about the status of care.data as a public good. The concept of a social licence may be useful in explaining the specifics of care.data, and also in reinforcing the more general lesson for policy-makers that legal authority does not necessarily command social legitimacy

Rationalising "for" and "against" a policy of school-led careers guidance in STEM in the U.K. : a teacher perspective

This paper reports on teacher attitudes to changes in the provision of careers guidance in the U.K., particularly as it relates to Science, Technology, Engineering and Mathematics (STEM). It draws on survey data of n = 94 secondary-school teachers operating in STEM domains and their attitudes towards a U.K. and devolved policy of internalising careers guidance within schools. The survey presents a mixed message of teachers recognising the significance of their unique position in providing learners with careers guidance yet concern that their ‘relational proximity’ to students and ‘informational distance’ from higher education and STEM industry may produce bias and misinformation that is harmful to their educational and occupational futures

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

Allergic rhinitis is the most common clinical presentation of allergy, affecting 400 million people worldwide, with increasing incidence in westernized countries1,2. To elucidate the genetic architecture and understand the underlying disease mechanisms, we carried out a meta-analysis of allergic rhinitis in 59,762 cases and 152,358 controls of European ancestry and identified a total of 41 risk loci for allergic rhinitis, including 20 loci not previously associated with allergic rhinitis, which were confirmed in a replication phase of 60,720 cases and 618,527 controls. Functional annotation implicated genes involved in various immune pathways, and fine mapping of the HLA region suggested amino acid variants important for antigen binding. We further performed genome-wide association study (GWAS) analyses of allergic sensitization against inhalant allergens and nonallergic rhinitis, which suggested shared genetic mechanisms across rhinitis-related traits. Future studies of the identified loci and genes might identify novel targets for treatment and prevention of allergic rhinitis

Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population

<p>Abstract</p> <p>Background</p> <p>Chromosome 15q14-22.1 has been linked to type 2 diabetes (T2D) and its related traits in Japanese and other populations. The presence of T2D disease susceptibility variant(s) was assessed in the 21.8 Mb region between <it>D15S118 </it>and <it>D15S117 </it>in a Japanese population using a region-wide case-control association test.</p> <p>Methods</p> <p>A two-stage association test was performed using Japanese subjects: The discovery panel (Stage 1) used 372 cases and 360 controls, while an independent replication panel (Stage 2) used 532 cases and 530 controls. A total of 1,317 evenly-spaced, common SNP markers with minor allele frequencies > 0.10 were typed for each stage. Captured genetic variation was examined in HapMap JPT SNPs, and a haplotype-based association test was performed.</p> <p>Results</p> <p>SNP2140 (rs2412747) (<it>C/T</it>) in intron 33 of the ubiquitin protein ligase E3 component n-recognin 1 (<it>UBR1</it>) gene was selected as a landmark SNP based on repeated significant associations in Stage 1 and Stage 2. However, the marginal <it>p </it>value (<it>p </it>= 0.0043 in the allelic test, OR = 1.26, 95% CI = 1.07–1.48 for combined samples) was weak in a single locus or haplotype-based association test. We failed to find any significant SNPs after correcting for multiple testing.</p> <p>Conclusion</p> <p>The two-stage association test did not reveal a strong association between T2D and any common variants on chromosome 15q14-22.1 in 1,794 Japanese subjects. A further association test with a larger sample size and denser SNP markers is required to confirm these observations.</p

Comprehensive Genotyping in Two Homogeneous Graves' Disease Samples Reveals Major and Novel HLA Association Alleles

BACKGROUND: Graves' disease (GD) is the leading cause of hyperthyroidism and thyroid eye disease inherited as a complex trait. Although geoepidemiology studies showed relatively higher prevalence of GD in Asians than in Caucasians, previous genetic studies were contradictory concerning whether and/or which human leukocyte antigen (HLA) alleles are associated with GD in Asians. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a case-control association study (499 unrelated GD cases and 504 controls) and a replication in an independent family sample (419 GD individuals and their 282 relatives in 165 families). To minimize genetic and phenotypic heterogeneity, we included only ethnic Chinese Han population in Taiwan and excluded subjects with hypothyroidism. We performed direct and comprehensive genotyping of six classical HLA loci (HLA-A, -B, -C, -DPB1, -DQB1 and -DRB1) to 4-digit resolution. Combining the data of two sample populations, we found that B*46:01 (odds ratio under dominant model [OR]  = 1.33, Bonferroni corrected combined P [P(Bc)]  = 1.17 x 10⁻²), DPB1*05:01 (OR  = 2.34, P(Bc) = 2.58 x 10⁻¹⁰), DQB1*03:02 (OR  = 0.62, P(Bc)  = 1.97 x 10⁻²), DRB1*15:01 (OR  = 1.68, P(Bc) = 1.22 x 10⁻²) and DRB1*16:02 (OR  = 2.63, P(Bc)  = 1.46 x 10⁻⁵) were associated with GD. HLA-DPB1*05:01 is the major gene of GD in our population and singly accounts for 48.4% of population-attributable risk. CONCLUSIONS/SIGNIFICANCE: These GD-associated alleles we identified in ethnic Chinese Hans, and those identified in other Asian studies, are totally distinct from the known associated alleles in Caucasians. Identification of population-specific association alleles is the critical first step for individualized medicine. Furthermore, comparison between different susceptibility/protective alleles across populations could facilitate generation of novel hypothesis about GD pathophysiology and indicate a new direction for future investigation

Autoimmune aspects of psoriasis: Heritability and autoantigens

Chronic immune-mediated disorders (IMDs) constitute a major health burden. Understanding IMD pathogenesis is facing two major constraints: Missing heritability explaining familial clustering, and missing autoantigens. Pinpointing IMD risk genes and autoimmune targets, however, is of fundamental importance for developing novel causal therapies. The strongest association of all IMDs is seen with human leukocyte antigen (HLA) alleles. Using psoriasis as an IMD model this article reviews the pathogenic role HLA molecules may have within the polygenic predisposition of IMDs. It concludes that disease-associated HLA alleles account for both missing heritability and autoimmune mechanisms by facilitating tissue-specific autoimmune responses through autoantigen presentation. (C) 2017 The Author. Published by Elsevier B.V

Attitudes towards Commercial Access to Health Data, 2015-2016

Abstract copyright UK Data Service and data collection copyright owner.Data are collected throughout the health service in increasingly large quantities, as well as in the contexts of biomedical and health research, for both direct care and secondary uses. The Wellcome Trust commissioned Ipsos MORI to research attitudes towards commercial organisations having access to health data. As part of this, a survey was conducted to provide measures for some of the themes that arose from qualitative workshops, particularly where these themes were suited to a quantitative follow-up. The Attitudes towards Commercial Access to Health Data, 2015-2016 survey was designed to explore perceptions of the sharing of health data, awareness of the extent of this sharing and to attempt to identify key red lines in the attitudes of the public. The findings fed into a wider report for the Wellcome Trust that incorporated the qualitative and quantitative findings. Main Topics:The main topics covered by the survey are: Public perceptions of the sharing of health data with commercial organisations; Awareness of health data sharing; Support for access to health data under different circumstances.<br

Wellcome Trust Monitor 2, 2012

Abstract copyright UK Data Service and data collection copyright owner.The Wellcome Trust Monitor is a unique survey of UK adults' (and in some waves, young people's) views around science and biomedical research. The findings are representative of the UK population and provide fresh and significant insights to inform science communication practice and how research priorities might be shaped, building a better understanding of the social context of biomedical research. The survey is repeated every three years and a large proportion of the questions recur in each wave. The aim of this tracking survey is to build a high-quality evidence base that explores trends and variations across time on both general scientific and medical themes and specific societal issues. This robust study also seeks to develop a more systematic approach to describing and understanding current interest in, attitudes towards and knowledge of science and biomedical research. There is flexibility within each wave to include a number of additional questions to explore new and topical areas of interest. Further information is available from the Wellcome Trust Monitor webpage. The Wellcome Trust Monitor 2, 2012 is the second survey in the series and was conducted in 2012 by Ipsos MORI. This wave of the survey was designed to provide comparability with findings from the baseline survey, carried out in 2009. The survey also aimed to build on the first wave, by refining the questionnaire and approach to maximise the level and quality of response from respondents. For the second edition (July 2014) two variables 'hedqual' and 'hedqualad' were replaced with variable 'hedqual_rev' and 'hedqualad_rev'. The new variables provide separate coding than 'item not applicable' for those respondents with no qualifications. See documentation for further details. Main Topics:The second Wellcome Trust Monitor questionnaire built heavily on the first, and comprised questions on the following topics: Adults and young people:media usageawareness of and interest in medical researchknowledge of medical researchengagement with medical researchsources of information on medical researchexpectations and concerns for medical researchscientific literacyattitudes towards vaccinationsattitudes towards environment, nutrition and behaviour changeawareness of and attitudes towards cognitive enhancing drugsunderstand of and attitudes towards genetic researchAdults only:involvement in medical researchattitudes to science governanceYoung people only:out-of-school science-related activitiescurrent education and future career aspirationsexperience of school sciencefriends' and parents' interest in scienceattitudes to science as a career</ul

Wellcome Trust Monitor 2, 2012

Abstract copyright UK Data Service and data collection copyright owner.The Wellcome Trust Monitor is a unique survey of UK adults' (and in some waves, young people's) views around science and biomedical research. The findings are representative of the UK population and provide fresh and significant insights to inform science communication practice and how research priorities might be shaped, building a better understanding of the social context of biomedical research. The survey is repeated every three years and a large proportion of the questions recur in each wave. The aim of this tracking survey is to build a high-quality evidence base that explores trends and variations across time on both general scientific and medical themes and specific societal issues. This robust study also seeks to develop a more systematic approach to describing and understanding current interest in, attitudes towards and knowledge of science and biomedical research. There is flexibility within each wave to include a number of additional questions to explore new and topical areas of interest. Further information is available from the Wellcome Trust Monitor webpage. The Wellcome Trust Monitor 2, 2012 is the second survey in the series and was conducted in 2012 by Ipsos MORI. This wave of the survey was designed to provide comparability with findings from the baseline survey, carried out in 2009. The survey also aimed to build on the first wave, by refining the questionnaire and approach to maximise the level and quality of response from respondents. For the second edition (July 2014) two variables 'hedqual' and 'hedqualad' were replaced with variable 'hedqual_rev' and 'hedqualad_rev'. The new variables provide separate coding than 'item not applicable' for those respondents with no qualifications. See documentation for further details. Main Topics:The second Wellcome Trust Monitor questionnaire built heavily on the first, and comprised questions on the following topics: Adults and young people:media usageawareness of and interest in medical researchknowledge of medical researchengagement with medical researchsources of information on medical researchexpectations and concerns for medical researchscientific literacyattitudes towards vaccinationsattitudes towards environment, nutrition and behaviour changeawareness of and attitudes towards cognitive enhancing drugsunderstand of and attitudes towards genetic researchAdults only:involvement in medical researchattitudes to science governanceYoung people only:out-of-school science-related activitiescurrent education and future career aspirationsexperience of school sciencefriends' and parents' interest in scienceattitudes to science as a career</ul