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To determine how three dimensions of genetic literacy (familiarity, skills, and factual knowledge) fit the hierarchy of knowledge outlined in E.M. Rogers' Diffusion of Innovations to better conceptualize lay understandings of genomics. A consumer panel representing the US adult population (N = 1016) completed an electronic survey in November 2013. Adjusting for education, we used correlations, principle components analysis, Mokken Scale tests, and linear regressions to assess how scores on the three genetic literacy sub-dimensions fit an ordered scale. The three scores significantly loaded onto one factor, even when adjusting for education. Analyses revealed moderate strength in scaling (0.416, p<0.001) and a difficulty ordering that matched Rogers' hierarchy (knowledge more difficult than skills, followed by familiarity). Skills scores partially mediated the association between familiarity and knowledge with a significant indirect effect (0.241, p<0.001). We established an ordering in genetic literacy sub-dimensions such that familiarity with terminology precedes skills using information, which in turn precedes factual knowledge. This ordering is important to contextualizing previous findings, guiding measurement in future research, and identifying gaps in the understanding of genomics relevant to the demands of differing applications.

With the expansion of newborn screening conditions globally and the increased use of genomic technologies for early detection, there is a need for ethically nuanced policies to guide the future integration of ever-more comprehensive genomics into population-based newborn screening programs. In the current paper, we consider the lived experiences of 169 family caregivers caring for 77 children with NBS-related conditions to identify lessons learned that can inform policy and practice related to population-based newborn screening using genomic technologies. Based on caregiver narratives obtained through in-depth interviews, we identify themes characterizing these families’ diagnostic odyssey continuum, which fall within two domains: (1) medical management implications of a child diagnosed with an NBS-related condition and (2) psychological implications of a child diagnosed with an NBS-related condition. For Domain 1, family caregivers’ experiences point to the need for educational resources for both health care professionals that serve children with NBS-related conditions and their families; empowerment programs for family caregivers; training for providers in patient-centered communication; and access to multi-disciplinary specialists. For Domain 2, caregivers’ experiences suggest a need for access to continuous, long-term counseling resources; patient navigator resources; and peer support programs. These lessons learned can inform policy recommendations for the benefit of the child, the family, the healthcare system, and society.

Neuroscientific technologies to assess, monitor and influence brain activity offer tremendous potential in the prevention and treatment of neurological and mental illnesses. However, these innovations, and their pursuit, also raise serious ethical questions. Neuroethics is a field that explores the ethical, legal, societal, philosophical, and cultural implications of neuroscience and related neurotechnologies. Many of these considerations have distinct cultural and contextual dimensions. Along with the advancement of neuroscience research in Africa, it is therefore critical to advance neuroethics as an integral component of neuroscience research on the continent.

Background Family health history (FHH) inherently involves collecting proxy reports of health statuses of related family members. Traditionally, such information has been collected from a single informant. More recently, research has suggested that a multiple informant approach to collecting FHH results in improved individual risk assessments. Likewise, recent work has emphasized the importance of incorporating health-related behaviors into FHH-based risk calculations. Integrating both multiple accounts of FHH with behavioral information on family members represents a significant methodological challenge as such FHH data is hierarchical in nature and arises from potentially error-prone processes. Methods In this paper, we introduce a statistical model that addresses these challenges using informative priors for background variation in disease prevalence and the effect of other, potentially correlated, variables while accounting for the nested structure of these data. Our empirical example is drawn from previously published data on families with a history of diabetes. Results The results of the comparative model assessment suggest that simply accounting for the structured nature of multiple informant FHH data improves classification accuracy over the baseline and that incorporating family member health-related behavioral information into the model is preferred over alternative specifications. Conclusions The proposed modelling framework is a flexible solution to integrate multiple informant FHH for risk prediction purposes.

A \"bidirectional gene pair\" comprises two adjacent genes whose transcription start sites are neighboring and directed away from each other. The intervening regulatory region is called a \"bidirectional promoter.\" These promoters are often associated with genes that function in DNA repair, with the potential to participate in the development of cancer. No connection between these gene pairs and cancer has been previously investigated. Using the database of spliced-expressed sequence tags (ESTs), we identified the most complete collection of human transcripts under the control of bidirectional promoters. A rigorous screen of the spliced EST data identified new bidirectional promoters, many of which functioned as alternative promoters or regulated novel transcripts. Additionally, we show a highly significant enrichment of bidirectional promoters in genes implicated in somatic cancer, including a substantial number of genes implicated in breast and ovarian cancers. The repeated use of this promoter structure in the human genome suggests it could regulate co-expression patterns among groups of genes. Using microarray expression data from 79 human tissues, we verify regulatory networks among genes controlled by bidirectional promoters. Subsets of these promoters contain similar combinations of transcription factor binding sites, including evolutionarily conserved ETS factor binding sites in ERBB2, FANCD2, and BRCA2. Interpreting the regulation of genes involved in co-expression networks, especially those involved in cancer, will be an important step toward defining molecular events that may contribute to disease.

Multi-layer networks arise when more than one type of relation is observed on a common set of actors. Modeling such networks within the exponential-family random graph (ERG) framework has been previously limited to special cases and, in particular, to dependence arising from just two layers. Extensions to ERGMs are introduced to address these limitations: Conway–Maxwell–Binomial distribution to model the marginal dependence among multiple layers; a “layer logic” language to translate familiar ERGM effects to substantively meaningful interactions of observed layers; and nondegenerate triadic and degree effects. The developments are demonstrated on two previously published datasets.

Background Common disease risk clusters in families due to shared genetics, exposure to environmental risk factors, and because many health behaviours are established and maintained in family environments. This randomised controlled trial will test whether the provision of a family health history (FHH) risk assessment tool increases intentions and engagement in health behaviors. Message distribution and collective behavior change within family networks will be mapped using social network analysis. The relative intervention impact will be compared between families from different ethnic backgrounds. Methods One hundred and fifty mothers (50 Anglo-Australian, 50 Italian-Australian, 50 Vietnamese-Australian) will be recruited, with four or more other family members across three generations, including a child (aged 10–18 years). Each family is randomly assigned to intervention or control. At baseline and 6-month follow-up, all participants complete surveys to assess dietary and physical activity intentions and behaviors, attitudes towards food, and perceived disease risk. Intervention families receive a visual pedigree detailing their FHH of diabetes, heart disease, breast and bowel cancer, a health education workbook to ascertain members’ disease risk (i.e. average or above average risk), and screening and primary prevention recommendations. After completion of follow-up assessments, controls will receive their pedigree and workbook. The primary hypothesis is that attitudes and lifestyle behaviors will improve more within families exposed to FHH feedback, although the extent of this improvement may vary between families from different ethnic backgrounds. Additionally, the extent of improvement in the treatment group will be moderated by the level of family disease risk, with above-average risk leading to greater improvement. A secondary aim will explore different family members’ roles in message distribution and collective responses to risk using social network approaches and to compare network functioning between families with different ethnic backgrounds. Discussion Results will guide future health promotion programs aimed at improving lifestyle factors. This research will assess whether FHH can motivate families to adopt family-level strategies to support health promoting behaviors. Secondary analyses aim to identify change agents within the family who are particularly effective in shifting normative behaviors. Trial registration Australian New Zealand Clinical Trials Registry ACTRN12613001033730 . Retrospectively registered: 17 September, 2013.

Previous literature documented that interpersonal strain arising from caregiving roles can negatively impact caregivers’ health and well-being, and interpersonal support can buffer this association. Using a social network approach, we evaluated interpersonal strain due to malfeasant and nonfeasant care-related interactions and behaviors and interpersonal support through uplifting care-related interactions and behaviors. We investigated whether caregivers’ perceptions of network members’ malfeasant, nonfeasant, and uplifting interactions and behaviors were associated with caregivers’ expectations regarding social network members’ involvement in caring for a child with a rare or undiagnosed disease. Qualitative data was further utilized to explain how caregivers interpret these concepts. One hundred sixty-six (n = 166) primary caregivers providing care to 104 relatives diagnosed with a rare genetic or undiagnosed disease were recruited through ongoing research, advocacy groups, and family referrals. Caregivers provided information about 2,806 familial network members and interactions with them. For each network member, perceived contribution to caregiving and whether the contributions met caregivers’ expectations, and interactions representing nonfeasance, malfeasance, and uplift were assessed. Confirmatory factor analysis for malfeasance, nonfeasance, and uplift demonstrated high construct validity for each and construct correlations were significant. Caregivers reported that network members whose care role contribution did not meet expectations were more likely to engage in malfeasance and nonfeasance (Odds Ratios range between 0.02 and 0.09, ps < 0.001); whereas network members providing uplift were meeting caregivers’ support expectations (OR = 1.98; p = 0.024). Thematic analysis demonstrated that respondents’ expectations of each network members’ care role involvement derived from social roles and attributes of both the network members and the child. These findings can inform strategies that maximize opportunities for interpersonal support and minimize interpersonal strain.

Background Sitting time and sedentary behaviors have been associated with adverse health outcomes including obesity, diabetes and cardiovascular disease (CVD) within non- Hispanic White populations. Similar associations have not been described within Hispanic populations despite their high CVD risk profile. This study aimed to assess the association between sitting time and obesity, self-reported diagnosed diabetes, hypertension and high cholesterol among a large cohort (N=11,268) of Mexican origin adults and to assess whether obesity mediated these associations. Methods Using a cross-sectional design, data collected between 2004 and 2010 were analyzed in late 2010. Regression analyses evaluated associations between self-reported daily sitting hours and disease outcomes, controlling for demographics, employment status, family disease history, and light, moderate and strenuous physical activity. Results Participants were mostly female (81.1%) Mexican origin adults. Sitting time was associated with increased odds of being obese, having diabetes and having hypertension, but not high cholesterol. Adjusted odds ratios of participants who reported sitting > 4 hours/day compared to those sitting 1-2 hours/day were for obesity OR=1.55 (95% CI 1.39, 1.73), p <.001, for diabetes OR=1.29 (95% CI, 1.09, 1.52), p =.003, for hypertension OR=1.17 (95% CI, 1.01, 1.37), p =.041. Associations controlled for physical activity and employment status. Effects on hypertension and diabetes were mediated by obesity. Conclusions Sitting time was significantly associated with detrimental health outcomes, independent of physical activity. Obesity mediated these relationships for diabetes and hypertension. Future research should assess whether interventions addressing sitting time are feasible and effective among Mexican origin populations.

Introduction: Family Health Histories (FHH) have been endorsed by the surgeon general as a powerful yet underutilized tool for identifying individuals at risk for complex chronic diseases such as diabetes, heart disease, and cancer. FHH tools provide a mechanism for increasing communication about disease history and motivating behavior change to reduce disease risk. A critical gap in translation efforts includes a lack of research that adapts and evaluates tools for low-income, minority populations who experience disparities in chronic disease. Methods: This study is a formative mixed-methods evaluation of an evidence-based FHH intervention called “Families SHARE” among African Americans residing in low-income neighborhoods. Participants (N = 51) completed assessments before and 6 weeks after receiving the intervention, including surveys and focus groups. We evaluated (a) their use, understanding, and perceived value of the tool; (b) if the intervention led to increased intentions to adopt disease risk-reducing behaviors among those with heightened disease risk, given their FHH; and (c) acceptability of and recommendations for the tool. Results: The quantitative and qualitative data indicated that this population valued and used the tool, and it prompted communication about FHH with family, friends, and others. Receipt of the intervention resulted in mixed accuracy of their perceived disease risk, and it did not shift intentions to change health behaviors. Qualitative data provide insights for future iterations of the Families SHARE tool. Conclusion: Families SHARE is an engaging FHH tool that can be further tailored to optimize its value and benefits for low-income African Americans.