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1.
Am J Hum Genet ; 107(4): 743-752, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32946764

RESUMO

Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such public perceptions are geographically limited and do not enable comparison. This paper presents results from a very large public survey on attitudes toward genomic data sharing. Data from 36,268 individuals across 22 countries (gathered in 15 languages) are presented. In general, publics across the world do not appear to be aware of, nor familiar with, the concepts of DNA, genetics, and genomics. Willingness to donate one's DNA and health data for research is relatively low, and trust in the process of data's being shared with multiple users (e.g., doctors, researchers, governments) is also low. Participants were most willing to donate DNA or health information for research when the recipient was specified as a medical doctor and least willing to donate when the recipient was a for-profit researcher. Those who were familiar with genetics and who were trusting of the users asking for data were more likely to be willing to donate. However, less than half of participants trusted more than one potential user of data, although this varied across countries. Genetic information was not uniformly seen as different from other forms of health information, but there was an association between seeing genetic information as special in some way compared to other health data and increased willingness to donate. The global perspective provided by our "Your DNA, Your Say" study is valuable for informing the development of international policy and practice for sharing genomic data. It highlights that the research community not only needs to be worthy of trust by the public, but also urgent steps need to be taken to authentically communicate why genomic research is necessary and how data donation, and subsequent sharing, is integral to this.


Assuntos
Genoma Humano , Genômica/ética , Disseminação de Informação/ética , Análise de Sequência de DNA/ética , Confiança/psicologia , Adulto , América , Ásia , Austrália , Europa (Continente) , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Saúde Pública/ética , Inquéritos e Questionários
2.
Genet Med ; 24(5): 1120-1129, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35125311

RESUMO

PURPOSE: The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. METHODS: We analyzed the "Your DNA, Your Say" online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, and these were gathered in 15 languages. We analyzed how participants responded when asked whether return of results (RoR) would motivate their decision to donate DNA or health data. We examined variation across the study countries and compared the responses of participants from other countries with those from the United States, which has been the subject of the majority of research on return of genomic results to date. RESULTS: There was substantial variation in the extent to which respondents reported being influenced by RoR. However, only respondents from Russia were more influenced than those from the United States, and respondents from 20 countries had lower odds of being partially or wholly influenced than those from the United States. CONCLUSION: There is substantial international variation in the extent to which the RoR may motivate people's intent to donate DNA or health data. The United States may not be a clear indicator of global attitudes. Participants' preferences for return of genomic results globally should be considered.


Assuntos
Atitude , Genômica , DNA , Genômica/métodos , Humanos , Intenção , Inquéritos e Questionários , Estados Unidos
3.
Psychol Med ; 52(9): 1691-1697, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-33148358

RESUMO

BACKGROUND: Substance use and psychiatric illness, particularly psychotic disorders, contribute to violence in emergency healthcare settings. However, there is limited research regarding the relationship between specific substances, psychotic symptoms and violent behaviour in such settings. We investigated the interaction between recent cannabinoid and stimulant use, and acute psychotic symptoms, in relation to violent behaviour in a British emergency healthcare setting. METHODS: We used electronic medical records from detentions of 1089 individuals under Section 136 of the UK Mental Health Act (1983 amended 2007), an emergency police power used to detain people for 24-36 h for psychiatric assessment. The relationship between recent cannabinoids and/or stimulant use, psychotic symptoms, and violent behaviour, was estimated using logistic regression. FINDINGS: There was evidence of recent alcohol or drug use in 64.5% of detentions. Violent incidents occurred in 12.6% of detentions. Psychotic symptoms increased the odds of violence by 4.0 [95% confidence intervals (CI) 2.2-7.4; p < 0.0001]. Cannabinoid use combined with psychotic symptoms increased the odds of violence further [odds ratios (OR) 7.1, 95% CI 3.7-13.6; p < 0.0001]. Recent use of cannabinoids with stimulants but without psychotic symptoms was also associated with increased odds of violence (OR 3.3, 95% CI 1.4-7.9; p < 0.0001). INTERPRETATION: In the emergency setting, patients who have recently used cannabinoids and exhibit psychotic symptoms are at higher risk of violent behaviour. Those who have used both stimulants and cannabinoids without psychotic symptoms may also be at increased risk. De-escalation protocols in emergency healthcare settings should account explicitly for substance use.


Assuntos
Canabinoides , Transtornos Psicóticos , Transtornos Relacionados ao Uso de Substâncias , Agressão/psicologia , Canabinoides/efeitos adversos , Humanos , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/psicologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/psicologia , Violência/psicologia
4.
BMC Public Health ; 22(1): 1747, 2022 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-36109810

RESUMO

BACKGROUND: Workplace programmes to test staff for asymptomatic COVID-19 infection have become common, but raise a number of ethical challenges. In this article, we report the findings of a consultation that informed the development of an ethical framework for organisational decision-making about such programmes. METHODS: We conducted a mixed-method consultation - a survey and semi-structured interviews during November-December 2020 in a UK case study organisation that had introduced asymptomatic testing for all staff working on-site in its buildings. Analysis of closed-ended survey data was conducted descriptively. An analysis approach based on the Framework Method was used for the open-ended survey responses and interview data. The analyses were then integrated to facilitate systematic analysis across themes. Inferences were based on the integrated findings and combined with other inputs (literature review, ethical analysis, legal and public health guidance, expert discussions) to develop an ethical framework. RESULTS: The consultation involved 61 staff members from the case study organisation (50 survey respondents and 11 interview participants). There was strong support for the asymptomatic testing programme: 90% of the survey respondents viewed it as helpful or very helpful. Open-ended survey responses and interviews gave insight into participants' concerns, including those relating to goal drift, risk of false negatives, and potential negative impacts for household members and people whose roles lacked contractual and financial stability. Integration of the consultation findings and the other inputs identified the importance of a whole-system approach with appropriate support for the key control measure of isolation following positive tests. The need to build trust in the testing programme, for example through effective communication from leaders, was also emphasised. CONCLUSIONS: The consultation, together with other inputs, informed an ethical framework intended to support employers. The framework may support organisational decision-making in areas ranging from design and operation of the programme through to choices about participation. The framework is likely to benefit from further consultation and refinement in new settings.


Assuntos
COVID-19 , Local de Trabalho , COVID-19/diagnóstico , Teste para COVID-19 , Tomada de Decisões Gerenciais , Humanos , Saúde Pública
5.
Hum Genet ; 138(11-12): 1237-1246, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31531740

RESUMO

Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Australia (n = 8967). Participants were most likely to trust their medical doctor and less likely to trust other entities named. Company researchers were least likely to be trusted. Low, Variable and High Trust classes were defined using latent class analysis. Members of the High Trust class were more likely to be under 50 years, male, with children, hold religious beliefs, have personal experience of genetics and be from the USA. They were most likely to be willing to donate their genomic and health data for clinical and research uses. The Low Trust class were less reassured than other respondents by laws preventing exploitation of donated information. Variation in trust, its relation to areas of concern about the use of genomic data and potential of legislation are considered. These findings have relevance for efforts to expand genomic medicine and data sharing beyond those with personal experience of genetics or research participants.


Assuntos
Bases de Dados Genéticas/normas , Pesquisa em Genética , Genômica/ética , Disseminação de Informação/ética , Confiança , Adolescente , Adulto , Austrália , Canadá , Criança , Estudos Transversais , Feminino , Genômica/métodos , Humanos , Disseminação de Informação/métodos , Masculino , Pessoa de Meia-Idade , Reino Unido , Estados Unidos , Adulto Jovem
6.
Psychol Med ; 48(16): 2786-2793, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29530110

RESUMO

BACKGROUND: The genetic component of Cannabis Use Disorder may overlap with influences acting more generally on early stages of cannabis use. This paper aims to determine the extent to which genetic influences on the development of cannabis abuse/dependence are correlated with those acting on the opportunity to use cannabis and frequency of use. METHODS: A cross-sectional study of 3303 Australian twins, measuring age of onset of cannabis use opportunity, lifetime frequency of cannabis use, and lifetime DSM-IV cannabis abuse/dependence. A trivariate Cholesky decomposition estimated additive genetic (A), shared environment (C) and unique environment (E) contributions to the opportunity to use cannabis, the frequency of cannabis use, cannabis abuse/dependence, and the extent of overlap between genetic and environmental factors associated with each phenotype. RESULTS: Variance components estimates were A = 0.64 [95% confidence interval (CI) 0.58-0.70] and E = 0.36 (95% CI 0.29-0.42) for age of opportunity to use cannabis, A = 0.74 (95% CI 0.66-0.80) and E = 0.26 (95% CI 0.20-0.34) for cannabis use frequency, and A = 0.78 (95% CI 0.65-0.88) and E = 0.22 (95% CI 0.12-0.35) for cannabis abuse/dependence. Opportunity shares 45% of genetic influences with the frequency of use, and only 17% of additive genetic influences are unique to abuse/dependence from those acting on opportunity and frequency. CONCLUSIONS: There are significant genetic contributions to lifetime cannabis abuse/dependence, but a large proportion of this overlaps with influences acting on opportunity and frequency of use. Individuals without drug use opportunity are uninformative, and studies of drug use disorders must incorporate individual exposure to accurately identify aetiology.


Assuntos
Predisposição Genética para Doença/genética , Abuso de Maconha/genética , Uso da Maconha/genética , Sistema de Registros/estatística & dados numéricos , Adulto , Austrália/epidemiologia , Estudos Transversais , Feminino , Humanos , Masculino , Abuso de Maconha/epidemiologia , Abuso de Maconha/etiologia , Uso da Maconha/epidemiologia
7.
J Biomed Inform ; 88: 11-19, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30368002

RESUMO

The importance of incorporating Natural Language Processing (NLP) methods in clinical informatics research has been increasingly recognized over the past years, and has led to transformative advances. Typically, clinical NLP systems are developed and evaluated on word, sentence, or document level annotations that model specific attributes and features, such as document content (e.g., patient status, or report type), document section types (e.g., current medications, past medical history, or discharge summary), named entities and concepts (e.g., diagnoses, symptoms, or treatments) or semantic attributes (e.g., negation, severity, or temporality). From a clinical perspective, on the other hand, research studies are typically modelled and evaluated on a patient- or population-level, such as predicting how a patient group might respond to specific treatments or patient monitoring over time. While some NLP tasks consider predictions at the individual or group user level, these tasks still constitute a minority. Owing to the discrepancy between scientific objectives of each field, and because of differences in methodological evaluation priorities, there is no clear alignment between these evaluation approaches. Here we provide a broad summary and outline of the challenging issues involved in defining appropriate intrinsic and extrinsic evaluation methods for NLP research that is to be used for clinical outcomes research, and vice versa. A particular focus is placed on mental health research, an area still relatively understudied by the clinical NLP research community, but where NLP methods are of notable relevance. Recent advances in clinical NLP method development have been significant, but we propose more emphasis needs to be placed on rigorous evaluation for the field to advance further. To enable this, we provide actionable suggestions, including a minimal protocol that could be used when reporting clinical NLP method development and its evaluation.


Assuntos
Registros Eletrônicos de Saúde , Informática Médica/métodos , Serviços de Saúde Mental/organização & administração , Processamento de Linguagem Natural , Semântica , Algoritmos , Coleta de Dados/métodos , Humanos , Informática Médica/tendências , Transtornos Mentais/terapia , Avaliação de Resultados em Cuidados de Saúde , Reprodutibilidade dos Testes
8.
Lancet ; 385(9975): 1305-14, 2015 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-25529582

RESUMO

BACKGROUND: Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the diagnosis of rare diseases. The question of whether and how some categories of genomic findings should be shared with individual research participants is currently a topic of international debate, and development of robust analytical workflows to identify and communicate clinically relevant variants is paramount. METHODS: The Deciphering Developmental Disorders (DDD) study has developed a UK-wide patient recruitment network involving over 180 clinicians across all 24 regional genetics services, and has performed genome-wide microarray and whole exome sequencing on children with undiagnosed developmental disorders and their parents. After data analysis, pertinent genomic variants were returned to individual research participants via their local clinical genetics team. FINDINGS: Around 80,000 genomic variants were identified from exome sequencing and microarray analysis in each individual, of which on average 400 were rare and predicted to be protein altering. By focusing only on de novo and segregating variants in known developmental disorder genes, we achieved a diagnostic yield of 27% among 1133 previously investigated yet undiagnosed children with developmental disorders, whilst minimising incidental findings. In families with developmentally normal parents, whole exome sequencing of the child and both parents resulted in a 10-fold reduction in the number of potential causal variants that needed clinical evaluation compared to sequencing only the child. Most diagnostic variants identified in known genes were novel and not present in current databases of known disease variation. INTERPRETATION: Implementation of a robust translational genomics workflow is achievable within a large-scale rare disease research study to allow feedback of potentially diagnostic findings to clinicians and research participants. Systematic recording of relevant clinical data, curation of a gene-phenotype knowledge base, and development of clinical decision support software are needed in addition to automated exclusion of almost all variants, which is crucial for scalable prioritisation and review of possible diagnostic variants. However, the resource requirements of development and maintenance of a clinical reporting system within a research setting are substantial. FUNDING: Health Innovation Challenge Fund, a parallel funding partnership between the Wellcome Trust and the UK Department of Health.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Genoma Humano/genética , Adolescente , Criança , Pré-Escolar , Deficiências do Desenvolvimento/genética , Feminino , Variação Genética/genética , Estudo de Associação Genômica Ampla/métodos , Heterozigoto , Humanos , Achados Incidentais , Lactente , Recém-Nascido , Disseminação de Informação , Masculino , Fenótipo , Manejo de Espécimes
9.
J Med Genet ; 52(8): 571-4, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25995218

RESUMO

Health-related results that are discovered in the process of genomic research should only be returned to research participants after being clinically validated and then delivered and followed up within a health service. Returning such results may be difficult for genomic researchers who are limited by resources or unable to access appropriate clinicians. Raw sequence data could, in theory, be returned instead. This might appear nonsensical as, on its own, it is a meaningless code with no clinical value. Yet, as and when direct to consumer genomics services become more widely available (and can be endorsed by independent health professionals and genomic researchers alike), the return of such data could become a realistic proposition. We explore attitudes from <7000 members of the public, genomic researchers, genetic health professionals and non-genetic health professionals and ask participants to suggest what they would do with a raw sequence, if offered it. Results show 62% participants were interested in using it to seek out their own clinical interpretation. Whilst we do not propose that raw sequence data should be returned at the moment, we suggest that should this become feasible in the future, participants of sequencing studies may possibly support this.


Assuntos
Genoma Humano , Genômica , Acesso dos Pacientes aos Registros , Coleta de Dados , Pesquisa em Genética , Humanos , Dados de Sequência Molecular
10.
PLoS Med ; 11(6): e1001664, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24937305

RESUMO

BACKGROUND: Haemorrhage is a common cause of death in trauma patients. Although transfusions are extensively used in the care of bleeding trauma patients, there is uncertainty about the balance of risks and benefits and how this balance depends on the baseline risk of death. Our objective was to evaluate the association of red blood cell (RBC) transfusion with mortality according to the predicted risk of death. METHODS AND FINDINGS: A secondary analysis of the CRASH-2 trial (which originally evaluated the effect of tranexamic acid on mortality in trauma patients) was conducted. The trial included 20,127 trauma patients with significant bleeding from 274 hospitals in 40 countries. We evaluated the association of RBC transfusion with mortality in four strata of predicted risk of death: <6%, 6%-20%, 21%-50%, and >50%. For this analysis the exposure considered was RBC transfusion, and the main outcome was death from all causes at 28 days. A total of 10,227 patients (50.8%) received at least one transfusion. We found strong evidence that the association of transfusion with all-cause mortality varied according to the predicted risk of death (p-value for interaction <0.0001). Transfusion was associated with an increase in all-cause mortality among patients with <6% and 6%-20% predicted risk of death (odds ratio [OR] 5.40, 95% CI 4.08-7.13, p<0.0001, and OR 2.31, 95% CI 1.96-2.73, p<0.0001, respectively), but with a decrease in all-cause mortality in patients with >50% predicted risk of death (OR 0.59, 95% CI 0.47-0.74, p<0.0001). Transfusion was associated with an increase in fatal and non-fatal vascular events (OR 2.58, 95% CI 2.05-3.24, p<0.0001). The risk associated with RBC transfusion was significantly increased for all the predicted risk of death categories, but the relative increase was higher for those with the lowest (<6%) predicted risk of death (p-value for interaction <0.0001). As this was an observational study, the results could have been affected by different types of confounding. In addition, we could not consider haemoglobin in our analysis. In sensitivity analyses, excluding patients who died early; conducting propensity score analysis adjusting by use of platelets, fresh frozen plasma, and cryoprecipitate; and adjusting for country produced results that were similar. CONCLUSIONS: The association of transfusion with all-cause mortality appears to vary according to the predicted risk of death. Transfusion may reduce mortality in patients at high risk of death but increase mortality in those at low risk. The effect of transfusion in low-risk patients should be further tested in a randomised trial. TRIAL REGISTRATION: www.ClinicalTrials.gov NCT01746953.


Assuntos
Transfusão de Eritrócitos/mortalidade , Hemorragia/terapia , Ferimentos e Lesões/mortalidade , Adulto , Causas de Morte , Hemorragia/mortalidade , Humanos , Razão de Chances , Risco , Medição de Risco , Ácido Tranexâmico/uso terapêutico , Adulto Jovem
11.
Br J Gen Pract ; 74(742): e339-e346, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38621805

RESUMO

BACKGROUND: System problems, known as operational failures, can greatly affect the work of GPs, with negative consequences for patient and professional experience, efficiency, and effectiveness. Many operational failures are tractable to improvement, but which ones should be prioritised is less clear. AIM: To build consensus among GPs and patients on the operational failures that should be prioritised to improve NHS general practice. DESIGN AND SETTING: Two modified Delphi exercises were conducted online among NHS GPs and patients in several regions across England. METHOD: Between February and October 2021, two modified Delphi exercises were conducted online: one with NHS GPs, and a subsequent exercise with patients. Over two rounds, GPs rated the importance of a list of operational failures (n = 45) that had been compiled using existing evidence. The resulting shortlist was presented to patients for rating over two rounds. Data were analysed using median scores and interquartile ranges. Consensus was defined as 80% of responses falling within one value below and above the median. RESULTS: Sixty-two GPs responded to the first Delphi exercise, and 53.2% (n = 33) were retained through to round two. This exercise yielded consensus on 14 failures as a priority for improvement, which were presented to patients. Thirty-seven patients responded to the first patient Delphi exercise, and 89.2% (n = 33) were retained through to round two. Patients identified 13 failures as priorities. The highest scoring failures included inaccuracies in patients' medical notes, missing test results, and difficulties referring patients to other providers because of problems with referral forms. CONCLUSION: This study identified the highest-priority operational failures in general practice according to GPs and patients, and indicates where improvement efforts relating to operational failures in general practice should be focused.


Assuntos
Consenso , Técnica Delphi , Medicina Geral , Melhoria de Qualidade , Humanos , Inglaterra , Medicina Estatal , Clínicos Gerais , Feminino , Masculino
12.
PLoS One ; 19(2): e0298701, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38422089

RESUMO

Although research has demonstrated that transport infrastructure development can have positive and negative health-related impacts, most of this research has not considered mental health and wellbeing separately from physical health. There is also limited understanding of whether and how any effects might be experienced differently across population groups, whether this differs according to the stage of development (e.g. planning, construction), and how changes to planned infrastructure may affect mental health and wellbeing. This paper presents a protocol for the Wellbeing Impact Study of HS2 (WISH2), which seeks to address these questions using a high-speed rail development in the UK as an applied example. WISH2 is a 10-year, integrated, longitudinal, mixed-methods project using general practices (primary medical care providers in the UK) as an avenue for participant recruitment and for providing a geographically defined population for which aggregated data on mental health indicators are available. The research comprises: (i) a combined longitudinal and repeated cross-sectional cohort study involving multiple waves of survey data collection and data from medical records; (ii) longitudinal, semi-structured interviews and focus groups with residents and community stakeholders from exposed areas; (iii) analysis of administrative data aggregated at the general practice population level; and (iv) health economic analysis of mental health and wellbeing impacts. The study findings will support the development of strategies to reduce negative impacts and/or enhance positive mental health and wellbeing impacts of high-speed rail developments and other large-scale infrastructure projects.


Assuntos
Medicina de Família e Comunidade , Saúde Mental , Humanos , Estudos Transversais , Coleta de Dados , Grupos Focais
13.
Int J Ment Health Nurs ; 32(2): 590-602, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36594457

RESUMO

Despite associations between alcohol use and suicidal acts, little research measures prognoses of alcohol-using patients treated by Crisis Resolution Teams (CRTs), an intensive community-based intervention. We estimated the association of alcohol use amongst patients accepted following suicidal acts or ideation in four London-based Crisis Resolution Teams, with death-by-any-cause or recontact with crisis care. We analysed the electronic health records of 1615 CRT patients accepted following suicidal acts or ideation over 38 months, following STROBE guidelines. Using logistic regression we estimated the association of alcohol use (indicated by risk-assessment, AUDIT, or ICD-10 diagnosis) with death-or-recontact at (i) 30-days and (ii) 1-year after treatment start, adjusted for age, sex, ethnicity, psychiatric diagnosis, and severity of need. Hazardous, harmful, or dependent drinking was identified in 270 cases at baseline (16.7%); 73 (4.5%) were alcohol dependent. By 1-year, 622 patients (38.5%) had recontacted crisis care or died. After adjustment, alcohol use at a hazardous, harmful, or dependent level was not associated with increased odds of death-or-recontact at 30-days (AOR 1.17, 95%CI 0.73, 1.88) or 1-year (AOR 1.17, 95%CI 0.85, 1.60). Patients with hazardous, harmful, and dependent alcohol use are a small proportion of CRT patients, despite being more commonly encountered in emergency settings from which patients may be referred to CRTs, indicating a potential gap in provision. Those who are included in CRTs are not at increased risk of death-or-recontact within 1 year of treatment, suggesting that their inclusion can work, at least in a sample with predominantly hazardous or harmful alcohol use.


Assuntos
Alcoolismo , Ideação Suicida , Humanos , Alcoolismo/complicações , Alcoolismo/epidemiologia , Alcoolismo/terapia , Londres , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Intervenção em Crise
14.
Wellcome Open Res ; 8: 310, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37928209

RESUMO

As detailed in its flagship report, Genome UK, the UK government recognises the vital role that broad public engagement across whole populations plays in the field of genomics. However, there is limited evidence about how to do this at scale. Most public audiences do not feel actively connected to science, are oftenunsure of the relevance to their lives and rarely talk to their family and friends about; we term this dis-connection a 'disengaged public audience'. We use a narrative review to explore: (i) UK attitudes towards genetics and genomics and what may influence reluctance to engage with these topics; (ii) innovative public engagement approaches that have been used to bring diverse public audiences into conversations about the technology. Whilst we have found some novel engagement methods that have used participatory arts, film, social media and deliberative methods, there is no clear agreement on best practice. We did not find a consistently used, evidence-based strategy for delivering public engagement about genomics across diverse and broad populations, nor a specific method that is known to encourage engagement from groups that have historically felt (in terms of perception) and been (in reality) excluded from genomic research. We argue there is a need for well-defined, tailor-made engagement strategies that clearly articulate the audience, the purpose and the proposed impact of the engagement intervention. This needs to be coupled with robust evaluation frameworks to build the evidence-base for population-level engagement strategies.

15.
Am J Hum Genet ; 84(3): 367-79, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19268276

RESUMO

For the identification of genes associated with smoking initiation and current smoking, genome-wide association analyses were carried out in 3497 subjects. Significant genes that replicated in three independent samples (n = 405, 5810, and 1648) were visualized into a biologically meaningful network showing cellular location and direct interaction of their proteins. Several interesting groups of proteins stood out, including glutamate receptors (e.g., GRIN2B, GRIN2A, GRIK2, GRM8), proteins involved in tyrosine kinase receptor signaling (e.g., NTRK2, GRB14), transporters (e.g., SLC1A2, SLC9A9) and cell-adhesion molecules (e.g., CDH23). We conclude that a network-based genome-wide association approach can identify genes influencing smoking behavior.


Assuntos
Abandono do Hábito de Fumar , Fumar/genética , Adulto , Moléculas de Adesão Celular/genética , Moléculas de Adesão Celular/metabolismo , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Pessoa de Meia-Idade , Ligação Proteica , Receptores Proteína Tirosina Quinases/genética , Receptores Proteína Tirosina Quinases/metabolismo , Receptores de Glutamato/genética , Receptores de Glutamato/metabolismo , Transdução de Sinais/fisiologia
16.
Rand Health Q ; 9(4): 5, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36237999

RESUMO

Predictive genetic testing provides individuals with information about their future risk of developing health conditions. Theoretically, predictive genetic tests could have positive or negative impacts on the insurance industry. If genetic test results stimulate actions to reduce health risks, they may reduce costs to insurers. If disclosed to insurers, such information may allow them to better understand individual- and population-level risks and make insurance more affordable. However, if individuals who know they are at high genetic risk of becoming ill or dying are more likely to apply for insurance than those not at high risk, this may lead to an unanticipated increase in claims. It may be exacerbated if people at low genetic risk are less likely to apply for insurance compared to the general population. If this happened on a large scale it could make the insurance market unsustainable. Determining whether a genetic test could affect the insurance industry is complex and needs to be evaluated on a per-test basis. The Cambridge Centre for Health Services Research, a collaboration between RAND Europe and the University of Cambridge, developed a framework for evaluating the potential impacts on the UK insurance industry arising from predictive genetic tests. It considers the characteristics of genetic tests and behavioural aspects that influence their uptake. It is intended to provide a transparent approach for evaluating whether a specific condition for which a test is available could impact the insurance industry, currently or in the future, and understanding the key factors that influence this.

17.
JMIR Public Health Surveill ; 8(7): e34605, 2022 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-35605152

RESUMO

BACKGROUND: Digital technologies have been central to efforts to respond to the COVID-19 pandemic. In this context, a range of literature has reported on developments regarding the implementation of new digital technologies for COVID-19-related surveillance, prevention, and control. OBJECTIVE: In this study, scoping reviews of academic and nonacademic literature were undertaken to obtain an overview of the evidence regarding digital innovations implemented to address key public health functions in the context of the COVID-19 pandemic. This study aimed to expand on the work of existing reviews by drawing on additional data sources (including nonacademic sources) by considering literature published over a longer time frame and analyzing data in terms of the number of unique digital innovations. METHODS: We conducted a scoping review of the academic literature published between January 1, 2020, and September 15, 2020, supplemented by a further scoping review of selected nonacademic literature published between January 1, 2020, and October 13, 2020. Both reviews followed the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) approach. RESULTS: A total of 226 academic articles and 406 nonacademic articles were included. The included articles provided evidence of 561 (academic literature) and 497 (nonacademic literature) unique digital innovations. The most common implementation settings for digital innovations were the United States, China, India, and the United Kingdom. Technologies most commonly used by digital innovations were those belonging to the high-level technology group of integrated and ubiquitous fixed and mobile networks. The key public health functions most commonly addressed by digital innovations were communication and collaboration and surveillance and monitoring. CONCLUSIONS: Digital innovations implemented in response to the COVID-19 pandemic have been wide ranging in terms of their implementation settings, the digital technologies used, and the public health functions addressed. However, evidence gathered through this study also points to a range of barriers that have affected the successful implementation of digital technologies for public health functions. It is also evident that many digital innovations implemented in response to the COVID-19 pandemic are yet to be formally evaluated or assessed.


Assuntos
COVID-19 , COVID-19/epidemiologia , Tecnologia Digital , Humanos , Pandemias/prevenção & controle , Saúde Pública , Tecnologia , Estados Unidos
19.
Drug Alcohol Rev ; 40(3): 499-508, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33569872

RESUMO

INTRODUCTION: Despite the association of alcohol use with recurrent suicidal acts, individuals attempting suicide after drinking alcohol face barriers accessing crisis care following emergency assessment, demonstrated by higher odds of inpatient admission for those whose suicide attempt did not feature alcohol. This disparity may be due to suicidality dissipating more rapidly after a suicide attempt involving alcohol. We investigated the effect of acute alcohol use and ongoing suicidality on onward care decisions after emergency assessment. METHODS: We analysed electronic health records of 650 suicidal adults detained under Section 136 of the Mental Health Act (1983, amended 2007) for up to 36 h at a London psychiatric emergency care centre. We used logistic regression to estimate the association of acute alcohol use and ongoing suicidality (including their interaction) with admission to psychiatric hospital. RESULTS: Fifteen percent of previously intoxicated detainees expressed suicidal intent at detention end, compared to 24% of detainees who had not used alcohol prior to detention. Compared to those who were not previously intoxicated and not suicidal at detention end, acute alcohol use was associated with reduced odds of admission amongst those no longer suicidal (AOR 0.4, 95% CI 0.2, 0.6). Where suicidality persisted, odds of admission rose; however, the magnitude of increase when in combination with prior alcohol use (AOR 3.6, 95% CI 1.9, 7.1) was under half that of when alcohol was not involved (AOR 8.2, 95% CI 3.5, 19.1). DISCUSSION AND CONCLUSIONS: Acute alcohol use is associated with transient suicidality, but this only partially accounts for disparities in care following suicide attempts.


Assuntos
Ideação Suicida , Tentativa de Suicídio , Adulto , Consumo de Bebidas Alcoólicas/epidemiologia , Hospitalização , Hospitais Psiquiátricos , Humanos , Fatores de Risco
20.
Drug Alcohol Depend ; 224: 108725, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-33940325

RESUMO

BACKGROUND: Alcohol use is a multidimensional risk factor for suicidal behaviour. However, suicide prevention strategies often take 'one-size-fits-all' approaches to alcohol use, reflecting an evidence base built on unidimensional measures. Latent Class Analysis can use a range of measures to differentiate distinct patterns of alcohol using behaviour and their associated risks. METHODS: We analysed Electronic Health Record data from 650 suicidal adults detained for up to 36 h using police powers (Section 136 of the Mental Health Act 1983, amended 2007) to facilitate psychiatric assessment at a Health-Based Place of Safety, a dedicated emergency psychiatric care centre in London, UK. We conducted a Latent Class Analysis of alcohol using behaviours at first detention, and used multivariable logistic regression to estimate the association of each identified latent class with subsequent death or recontact with emergency psychiatric care over a median follow-up of 490 days, adjusting for sex, age and past-year psychiatric diagnosis. RESULTS: Three classes of alcohol use were identified: low risk drinkers, heavy episodic drinkers and dependent drinkers. The dependent drinking class had twice the odds of death or recontact with emergency psychiatric care as the low risk drinking class (OR 2.32, 95 %CI 1.62-3.32, p < 0.001). Conversely, the heavy episodic drinking class was associated with lower odds of death or recontact than the low risk drinking class (OR 0.66, 95 %CI 0.53-0.81, p < 0.001). CONCLUSIONS: The risk of adverse outcomes after a suicide attempt are not uniform for different alcohol use classes. Clinical assessment and suicide prevention efforts should be tailored accordingly.


Assuntos
Alcoolismo , Adulto , Consumo de Bebidas Alcoólicas/epidemiologia , Alcoolismo/epidemiologia , Humanos , Fatores de Risco , Ideação Suicida , Tentativa de Suicídio
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