Blazing a Trail: A Public Health Research Agenda in Genomics and Chronic Disease

Whether and when genomics will lead to public health benefit via reductions in chronic disease burden has provided fodder for debate (1,2). A point of agreement among both proponents and skeptics is that directing genomics research to achieve this end will require integration of knowledge across multiple disciplines and levels of analysis (i.e., biological, behavioral, social, and environmental) (3). Getting started on building these collaborations while the territory is new could temper the disciplinary hegemony that so often presents formidable barriers to transdisciplinary research (4). That said, when it comes to genomics, which has been the bastion of bench scientists and most recently epidemiologists, it may be especially challenging to attract the array of chronic disease researchers with expertise in health education, health psychology, health services delivery, and community-based intervention that will be critical to further this research agenda

Patient responses to genetic information: Studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice

Advances in the genetic basis of kidney disease may mean that genetic testing is increasingly important in reducing disease morbidity and mortality among patients. However, there is little research examining patient responses to genetic information for Mendelian and common kidney diseases. Existing research on kidney and other hereditary cancer syndromes can inform three major issues relevant to the nephrology context: (1) how patients understand their risk of disease following genetic counseling and testing; (2) their emotional responses to the information; and (3) their uptake of recommended risk-reducing strategies. Prior research suggests that genetic counseling and testing may improve patient understanding of genetics, but patients still might not fully understand the meaning of their results for disease risk. Genetic counseling and testing does not appear to result in long-term negative emotional effects among patients who carry mutations or those who do not. Finally, while genetic counseling and testing may improve adherence to recommended screening strategies, adherence varies substantially across different risk-reduction options. Previous research also suggests that computer-based interventions might be a useful adjunct to genetic counseling approaches. Examining whether and how these prior findings relate to the context of hereditary kidney disease is an important area for future research

Dual perspectives on stigma: reports of experienced and enacted stigma by those affected and unaffected by podoconiosis

Background: Disease-related stigma is a public health concern steadily gaining global attention. Evidence consistently shows that an individual’s attribution of disease cause can prompt or justify interpersonal stigma. However, few studies have explored causal beliefs about inherited disease and their influence on stigmatising behaviours in low and middle income countries. Design and methods: The study was conducted in 2013, in six communities in Wolaita zone, Southern Ethiopia. A total of 1800 respondents took part in the study, 600 were affected by an inherited disease and 1200 were unaffected neighbours. Two versions of the interviewer- administered survey were created, with measures assessed in parallel on experienced stigma for the affected and enacted stigma for unaffected respondents. Results: Mean levels of enacted stigma reported by unaffected respondents were slightly lower (2.0, SD=0.7) than experienced stigma reported by affected respondents [2.2 (standard deviation=1.1)]. Beliefs that podoconiosis was hereditary were significantly and positively associated with levels of enacted stigma reported by unaffected respondents and experienced stigma reported by affected respondents (PConclusions: If stigma reduction interventions are to be successful, culturally tailored, gender inclusive and innovative health education programs are required, directed at the general community as well as individuals affected by inherited disease

Rural youths' understanding of gene x environmental contributors to heritable health conditions: the case of podoconiosis in Ethiopia

Objectives Assess the feasibility of engaging youth to disseminate accurate information about gene by environmental (GxE) influences on podoconiosis, a neglected tropical lymphedema endemic in southern Ethiopia. Methods A cross sectional survey was conducted with 377 youth randomly selected from 2 districts of Southern Ethiopia. Measures included GxE knowledge (4 true/false statements), preventive action knowledge (endorse wearing shoes and foot hygiene), causal misconceptions (11 items related to contagion) and confidence to explain GxE (9 disagree/agree statements). Results Over half (59%) accurately endorsed joint contributions of gene and environment to podoconiosis and preventive mechanisms (e.g., wearing protective shoes and keeping foot hygiene). Multivariable logistic regression showed that youth with accurate understanding about GxE contributors reported having: some education, friends or kin who were affected by the condition, and prior interactions with health extension workers. Surprisingly, higher accurate GxE knowledge was positively associated with endorsing contagion as a causal factor. Accuracy of GxE and preventive action knowledge were positively associated with youth’s confidence to explain podoconiosis-related information. Conclusions Youth have the potential to be competent disseminators of GxE information about podoconiosis. Interventions to foster confidence among youth in social or kin relationships with affected individuals may be most promising. Efforts to challenge youth’s co-existing inaccurate beliefs about contagion could strengthen the link of GxE explanations to preventive actions

Use of footwear and foot condition among rural Ethiopian school children

OBJECTIVE To evaluate whether shoe-wearing affords foot protection among school children living in southern Ethiopia. METHODS Data collectors conducted a standardized foot assessment with children in an elementary school in southern Ethiopia (N=168). RESULTS 54% reported wearing shoes consistently in the prior three days. Children wearing closed-toed shoes showed less adherent soil and toe nail dystrophy than those wearing open-toed sandals. There were no differences by shoe type with regard to signs of foot trauma or heel fissures. CONCLUSIONS Shoe wearing provided limited foot protection. Interventions are needed to build behavioral skills, including foot washing and wearing appropriate shoes that maximize foot protection

The Many Facets of Genetic Literacy: Assessing the Scalability of Multiple Measures for Broad Use in Survey Research

Objectives 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. Methods 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. Results The three scores significantly loaded onto one factor, even when adjusting for education. Analyses revealed moderate strength in scaling (0.416, p\u3c0.001) 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\u3c0.001). Conclusion 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

Interpretations of education about gene-environment influences on health in rural Ethiopia: the context of a neglected tropical disease

Background: Misunderstandings of the role of genetics in disease development are associated with stigmatizing behaviors and fatalistic attitudes about prevention. This report describes an evaluation of community understanding of an educational module about genetic and environmental influences on the development of podoconiosis, a neglected tropical disease endemic in highland Ethiopia. Methods: A qualitative process assessment was conducted as part of a large prospective intervention trial in August 2013, in Wolaita Zone, southern Ethiopia. Sixty five participants were purposively selected from 600 households randomized to receive the inherited susceptibility module. The educational module used pictorial representations and oral explanations of the interaction of inherited sensitivity and soil exposure and was delivered by lay health educators in participants' homes. Data were collected using semi-structured individual interviews (IDIs) or focus group discussions (FGDs). Results: Qualitative analyses showed that most participants improved their understanding of inherited soil sensitivity and susceptibility to podoconiosis. Participants linked their new understanding to decreased stigma-related attitudes. The module also corrected misconceptions that the condition was contagious, again diminishing stigmatizing attitudes. Lastly, these improvements in understanding increased the perceived value of foot protection. Conclusions: Taken together, these improvements support the acceptability, feasibility and potential benefits of implementing gene-environment education in low and middle income countries

The extent of protective footwear use among school-age rural children at high risk for podoconiosis and socio-economic correlates: a household cross-sectional survey in Southern Ethiopia

Background Podoconiosis is preventable if genetically susceptible people wear shoes starting from an early age and do so consistently. However, lack of routine use of footwear is one of the major risk factors for podoconiosis and several other foot-related Neglected Tropical Diseases (NTDs). This study is aimed at describing the extent of footwear use among school-age rural children susceptible to the disease and investigating associated socioeconomic factors. Methods Cross sectional surveys were conducted in 330 randomly selected households in Wolaita zone, southern Ethiopia. A household head and a child aged between 9 and 15 years were recruited from each household. Household heads provided socioeconomic data while children were asked about their footwear ownership and footwear use. Results Nearly half (49.5%) of the children reported either walking barefoot or wearing under-protective footwear in a range of situations. Girls, older children, those in higher school grades, who belonged to families with higher socio-economic status, and those who owned a larger number of pairs of footwear reported more protective use of footwear. The linear regression model constituting the adequacy of footwear ownership and interaction term (i.e. family socioeconomic status by adequacy of footwear ownership) variables explained 30% of variance in the protective use of footwear (AR2 = 0.307). The interaction effect of adequate ownership of footwear and family socioeconomic status consistently predicted the protective use of footwear among children (β = -0.175, p<0.01) though the main effect of adequacy of footwear ownership was stronger (β = 0.507, p<0.001). Conclusion Increased adoption of protective footwear is needed to effectively prevent school-age children living in endemic areas from developing podoconiosis and other neglected tropical diseases. Interventions aimed to improve the protective footwear use should consider approaches that also increase the socio-economic capacity of families in podoconiosis endemic communities

Drivers of overweight mothers' food choice behaviors depend on child gender

National data suggest a higher prevalence of obesity among boys. One possible cause could be the food choices made by parents on behalf of their children

Self-efficacy for managing pain, symptoms, and function in patients with lung cancer and their informal caregivers: Associations with symptoms and distress

This study examined self-efficacy for managing pain, symptoms, and function in patients with lung cancer and their caregivers, and associations between self-efficacy and patient and caregiver adjustment. 152 patients with early stage lung cancer completed measures of self-efficacy, pain, fatigue, quality of life, depression, and anxiety. Their caregivers completed a measure assessing their self-efficacy for helping the patient manage symptoms and measures of psychological distress and caregiver strain. Analyses indicated that, overall, patients and caregivers were relatively low in self-efficacy for managing pain, symptoms, and function, and that there were significant associations between self-efficacy and adjustment. Patients low in self-efficacy reported significantly higher levels of pain, fatigue, lung cancer symptoms, depression, and anxiety, and significantly worse physical and functional well being, as did patients whose caregivers were low in self-efficacy. When patients and caregivers both had low self-efficacy, patients reported higher levels of anxiety and poorer quality of life than when both were high in self-efficacy. There were also significant associations between patient and caregiver self-efficacy and caregiver adjustment, with lower levels of self-efficacy associated with higher levels of caregiver strain and psychological distress. These preliminary findings raise the possibility that patient and caregiver self-efficacy for managing pain, symptoms, and function may be important factors affecting adjustment, and that interventions targeted at increasing self-efficacy may be useful in this population