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Cascade genetic testing provides a method to appropriately focus colonoscopy use in families with Lynch syndrome (LS). However, research suggests that up to two-thirds at risk to inherit LS don’t participate. Within the United States, no studies have assessed colonoscopy use within this elusive and high-risk subset. We set forth to (1) document colonoscopy use within those not undergoing genetic testing (NGT) and (2) identify factors associated with completing colonoscopy. Data came from a cross sectional survey of families with molecularly confirmed LS. One hundred seventy-six (176) adults participated; 47 of unknown variant status and 129 with variant status known (59 carriers/70 non-carriers). Despite a high level of awareness of LS (85%) and identical recommendations for colonoscopy, NGT reported significantly lower use of colonoscopy than carriers (47% vs. 73%; p = 0.003). Our results show that perceived risk to develop colon cancer (AOR = 1.99, p p Trial Registration Clinical Trials.gov Identifier: NCT00004210.

Background: Healthcare-associated infections impose a signi cant burden on the health care system. Current methods for detecting these infections are constrained by combinations of high cost, long processing times, and imperfect accuracy, reducing their effectiveness. Methods: We examine whether the quantity of time a patient spends in a ward with other patients clinically-suspected of infection, which we call co-presence, can be used as a tool to predict subsequent healthcare-associated infection. Compared to contact tracing, this leverages passively-collected electronic data rather than manually-collected data, allowing for improved monitoring. We abstracted all 133,304 inpatient records between 2011 and 2015 from a healthcare system in the UK. We calculate the AUROC for each of ve pathogens based on co-presence time, the sensitivity and speci city for the test, and how much earlier co-presence would have predicted infection for the true positives. Findings: Across the ve pathogens, AUROC ranged from 0.92 to 0.99, and was 0.52 for the negative control. Optimal cut-points of co-presence ranged from 25 to 59 hours, and would have led to detection of true positives up to an average of one day earlier. Interpretation: These findings show that co-presence time would help predict healthcare-acquired infection, and would do so earlier than the current standard of care. Using this measure prospectively in hospitals based on real-time data could limit the consequences of infection, both by being able to treat individual infected patients earlier, and by preventing potential secondary infections stemming from the original infected patient. Funding: This research was funded via NHGRI, NIH (ZIA HG200335) and the Oxford Martin School, University of Oxford (LC1213-006).

BACKGROUND: Propionic acidemia (PA), an autosomal recessive metabolic disorder, has an estimated incidence of 1:105,000–130,000 in the United States(1,2). Nutritional management is a main intervention for PA. Research in inborn errors of metabolism (IEM) such as phenylketonuria (PKU) has identified association of parental perceptions and practices with dietary outcomes. Parental perceptions and practices in the nutritional management of PA have not been investigated. OBJECTIVE: To assess the dietary perceptions and practices of parental caregivers having children affected by PA. METHODS: PA parents were surveyed about perceptions and practices associated with feeding their affected child(ren). The single page survey was anonymous and responses to survey items were not identifiable. Parents provided information on how often they followed the prescribed diet and rationale for any adjustments. RESULTS: Parents “always” or “most of the time” followed the prescribed diet for children 4–20 years of age; yet, open-ended responses indicated 71.4% made situational adjustments to their child’s diet for a variety of reasons including illness, iatrogenic effects, and, social events. CONCLUSIONS: PA parents make situational adjustments to their child’s highly specialized diet. Uncertainty exists as to the situational adjustments being within the guidelines used by the metabolic health care team. We rely on parents to inform providers about dietary situational adjustments.

Collecting complete and accurate family health history is critical to preventing type 2 diabetes. Whether there are any racial difference in family health history knowledge of type 2 diabetes and whether such differences are related to interpersonal mechanisms remain unclear. We seek to identify the interpersonal mechanisms that give rise to discrepancies in family health history knowledge of type 2 diabetes in families of different racial backgrounds. We analyze informant-dyad consensus with respect to shared family history of type 2 diabetes in 127 informants of 45 families in the greater Cincinnati area (white: 28 families, 78 informants; black/African-American: 17 families, 49 informants). We first document a difference in informant-dyad consensus by race and then test whether this difference can be explained by interpersonal ties, particularly health communication. Compared with their white counterparts, dyads in families of black/African-American background are more likely to have an uneven distribution of knowledge, with one informant knowing and the other not knowing his/her family health history. The racial difference is explained by dyads in families of black/African-American background having fewer reciprocal health communication ties. While associated with informant-dyad consensus, education, kinship ties, and closeness ties do not account for the observed racial difference. Activating health communication is a key to improving family health history knowledge, especially in families of black/African-American background. Researchers and clinicians should leverage communication ties in the family network for better collection and utilization of family health history in preventive services.

Objectives Caregiving to individuals affected by Alzheimer’s disease and related dementia (ADRD) is a family-systems process where tasks are distributed between multiple caregivers in a network. We evaluate the extent to which multiple network members nominate one another as filling primary caregiver (PCG) roles and factors associated with nomination. Method Data come from the Caregiving Roles and Expectations Networks project, which aimed to characterize the caregiving networks of families affected by ADRD. All persons affected by ADRD were either full-time residents in residential care facilities or community-dwelling adult day-care participants. Generalized Poisson regression was used to model the count of incoming PCG nominations of each network member. Results On average, there were multiple network members identified as PCGs across different network contexts. Network members who were perceived to perform essential caregiving tasks, such as making decisions on behalf of and spending time with the care recipient, received more primary caregiving nominations from their network peers, adjusting for personal attributes, and the context of care. Discussion Having multiple PCGs in a network may result in lack of consensus in who fills those roles, potentially putting families at risk for interpersonal conflicts. Future work aimed at intervention development should fully assess the social contexts surrounding caregiving processes in order to better understand how network composition might impact outcomes.

We investigate how interpersonal ties influence communication about type 2 diabetes risk and encouragement to maintain or adopt a healthy lifestyle between family members of Mexican heritage, after a family history-based risk assessment intervention. Results suggest that individuals are more likely to initiate risk communication with another family member if they are close to, already seek advice from, or discuss health with him or her. Risk communication precedes encouragement, which is initiated by the older generation of the family. Understanding the role of interpersonal relationships in Mexican-heritage families can help identify who best to target in future health behavior interventions.

Background Despite prevalent binge drinking and alcohol-dependent symptoms among Hispanics, few studies have examined how multidimensional factors influence Hispanic adolescents' binge drinking. Purpose This study examines the effects of genetic, psychological, and social network factors on binge drinking over time among Mexican heritage adolescents in the USA and whether there are correlations among genetic variants that are associated with binge drinking and psychological and network characteristics. Methods Mexican heritage adolescents (n = 731) participated in a longitudinal study, which included genetic testing at baseline, alcohol use assessments at first and second follow-ups, and questionnaires on sensation seeking, impulsivity, and peer and family network characteristics at second follow-up. Logistic regression and Spearman correlation analyses were performed. Results After adjusting for demographic characteristics, underlying genetic clustering, and binge drinking at first follow-up, two genetic variants on tryptophan hydroxylase 2 (TPH2; rs17110451, rs7963717), sensation seeking and impulsivity, and having a greater fraction of peers who drink or encourage drinking alcohol were associated with greater risk whereas another genetic variant on TPH2 (rs11178999) and having a greater fraction of close family relationships were associated with reduced risk for binge drinking at second follow-up. Genetic variants in TPH1 (rs591556) were associated with sensation seeking and impulsivity, while genetic variants in TPH2 (rs17110451) were associated with the fraction of drinkers in family. Conclusions Results reveal that genetic variants in the serotonin pathway, behavioral disinhibition traits, and social networks exert joint influences on binge drinking in Mexican heritage adolescents in the USA.

Mexican American adolescents report high rates of alcohol consumption as well as media use. Viewing alcohol images in the media is associated with increased alcohol consumption; however, to date, this association has not been examined across different ethnic groups in the United States. To bridge this gap, we examined the association between viewing alcohol use images in PG-13-rated movies and alcohol initiation in Mexican-heritage adolescents. A cohort of 1,154 Mexican-heritage youth, average age 14 years, was followed for 2 years; in 2008-2009, participants reported alcohol use in the past 30 days and again in 2010-2011. Exposure to alcohol use images in PG-13-rated movies was estimated from 50 movies randomly selected from a pool of 250 of the top box office hits in the United States using previously validated methods. A series of generalized linear models, adjusting for age, gender, peer and family alcohol use, family functioning, anxiety, sensation-seeking tendency, and acculturation were completed. Multiple imputation was utilized to address missing data. Overall, N = 652 participants reported no alcohol use in 2008-2009; by 2010-2011, 33.6% (n = 219) had initiated alcohol use. Adjusted models indicated an independent association between exposure to alcohol use images in PG-13-rated movies and alcohol initiation (comparing quartiles 3 to 1: RR =1.53; 95% CI [1.11, 2.10]). The findings emphasize that the relationship between viewing alcohol use scenes in American films and alcohol initiation holds among Mexican-heritage adolescents and underscore the need to limit adolescents' exposure to such powerful images in PG-13-rated movies.

My research program considers family relationships across the life course: in early life, with a focus on disease prevention—leveraging genetic risk information and relationships to motivate health-promoting behaviors—and in later life, with a focus on informal caregiving—identifying characteristics of those most vulnerable to, or resilient from, caregiver stress. It is fortuitous, if not tragic, then, that my research and personal worlds collided during my mother’s final 8 months of life. Here, I discuss how this experience has shifted my thinking within both arms of my research program. First, I consider the state of the science in family health history, arguing that the current approach which focuses on an individual’s first- and second-degree relatives does not take us far enough into the relational landscape to activate communal coping with disease risk. Second, I discuss caregiving from a family systems perspective. My family’s experience confirmed the importance of using a systems approach and highlighted a need to identify underlying variability in members’ expectations of caregiving roles. In so doing, I capture the significance of understanding the multiple perspectives that frame a context in which families adapt and cope with risk and disease diagnoses.

Family health history is an accessible, clinically-recommended genomic tool that improves health risk evaluation. It captures both genetic and modifiable risk factors that cluster within families. Thus, families represent a salient context for family health history-based interventions that motivate engagement in risk-reducing behaviors. While previous research has explored how individuals respond to their personal risk information, we extend this inquiry to consider how individuals respond to their spouse's risk information among a sample of Mexican-Americans. One hundred and sixty spouse-dyads within Mexican-heritage households received a pedigree or a pedigree and personalized risk assessments, with or without behavioral recommendations. Analyses of Covariance (ANCOVAs) were conducted to assess the relationship between risk feedback, both personal and spouse, and self-reported physical activity levels at 3-month and 10-month assessments, controlling for baseline levels. The effect of being identified as an encourager of spouse's healthy weight was also evaluated. Personal feedback had no effect on participants' physical activity at either 3- or 10-month assessments. However, husbands' risk information was associated with wives' physical activity levels at 3-month assessment, with women whose husbands received both increased risk feedback and behavioral recommendations engaging in significantly higher physical activity levels than all other women. At 10-month follow-up, physical activity levels for both husbands and wives differed depending on whether they encouraged their spouse's healthy weight. Spousal risk information may be a stronger source of motivation to improve physical activity patterns than personal risk information, particularly for women. Interventions that activate interpersonal encouragement among spouses may more successfully extend intervention effects.

Background Collecting complete and accurate family health history is critical to preventing type 2 diabetes. Purpose We seek to identify the optimal risk feedback approach that facilitates risk communication between parents and their adult children and helps them develop shared appraisals of family history of type 2 diabetes. Methods In a sample of parent-adult child dyads from 125 Mexican-heritage families residing in Houston, Texas, we examine change in parent-child dyadic (dis)agreement with respect to their shared family health history from baseline to 10 months after receipt of risk feedback generated by Family Healthware. A 2 × 2 factorial design is applied to test how the recipient (one parent or all family members) and the content (risk assessment with or without behavioral recommendations) of the feedback affect (dis)agreement through interpersonal ties, particularly dyadic risk communication. Results Providing risk assessment without behavioral recommendations to the parent, but not the adult child, shifts the dyads toward agreement (relative risk ratio [RRR]= 1.78, 95% confidence interval [CI] [1.18–2.67]), by activating reciprocal risk communication between parents and children (RRR =2.70, 95% CI [1.81–4.03]). Dyads with close interpersonal ties are more likely to shift toward agreement (RRR = 3.09, 95% CI [1.89–5.07]). Conclusion Programs aimed at improving family health history knowledge and accuracy of reports should tailor risk feedback strategically for better intervention effect and leverage a network approach in disease prevention among at-risk minority and/or immigrant populations. Trial Registration Number NCT00469339.

Purpose The purpose of this study was to describe type 2 diabetes (T2DM) communication and risk reduction recommendations from the perspective of family members at risk for T2DM based on family history. Methods Semistructured qualitative interviews were conducted with 33 individuals with a first-degree relative with T2DM. Participants were recruited from the community and a previous pharmacogenetics study. Deductive and inductive codes were applied to the transcripts. Results Conversations with family members with and without T2DM focused on symptoms and disease management of the family member with T2DM. With at-risk relatives, conversations also focused on prevention. Lack of perceived relevance to family members without T2DM was a barrier to communication. Recommendations to facilitate communication included education of an at-risk family member to increase awareness of risk, followed by sharing of learned information with others. Conclusion Efforts are needed to increase awareness and improve communication about T2DM risk factors, familial risk, and risk reduction behaviors within families with a family history of T2DM. Family members with and without T2DM should be encouraged to communicate with their relatives about T2DM and the risk to family members. Identification of family members who can facilitate communication, education, and modeling of healthy behaviors may increase awareness and motivate at-risk individuals to engage in risk-reducing behaviors.

Background:Existing racial/ethnic disparities in physical activity during childhood increase Hispanics’ risk of developing chronic diseases, which serves to increase health disparities. This study examined associations of family cohesion and conflict with self-reported moderate-tovigorous physical activity (MVPA), controlling for psychosocial covariates such as subjective social status, anxiety, and sensation-seeking.Methods:1000 Mexican origin adolescents reported their MVPA levels approximately 2 years apart. Psychosocial covariates, family cohesion and conflict were measured at the first assessment. Generalized Linear Models were used to prospectively examine the relationship between family cohesion and conflict and subsequent MVPA based on 711 participants who had low levels of baseline MVPA.Results:35% of boys and 24% of girls reported adequate MVPA levels at follow-up; girls were less likely to report adequate MVPA (RR = 0.76; 95% CI: 0.61–0.93) than boys. Overall, family cohesion was associated with MVPA (P = .01), but family cohesion was not (P = .41). Gender-based analyses revealed that adequate MVPA was associated with family cohesion (RR = 1.40; 95% CI: 1.03–1.88), sensation seeking (RR = 1.05; 95% CI: 1.00–1.10), and age (RR = 0.85; 95% CI: 0.74–0.98) among girls and with subjective social status (RR = 1.20; 95% CI: 1.08–1.33) among boys.Conclusions:The family social environment and gender differences should be addressed in health promotion programs targeting MVPA.

Background: The past 20 years have witnessed successive and exponential advances in genomic discovery and technology, with a broad scientific imperative pushing for continual advancements. The most consistent critique of these advances is that they have vastly outpaced translation of new knowledge into improvements in public health and medicine. Methods: We employ a historical and epistemological analysis to characterize how prevailing scientific meta-narratives have shaped the pace and priorities of research applying genomics to health promotion. We use four ‘pivotal events' - the genetic characterization of Down syndrome, the launch of the Human Genome Research Project, the discovery of BRCA1, and the emergence of direct-to- consumer genetic testing - to illustrate how these scientific meta-narratives have inhibited genomic translation research. Results: The notion that discovery should precede translation research has over-focused translation research on the latest genetic testing platform. The idea that genetic-related research has an exceptional potential for public harm has encouraged research on worst case scenarios. The perceived competition between genetics and social determinants of health has discouraged a unified research agenda to move genomic translation forward. Conclusion: We make a case for creating new scientific meta-narratives in which discovery and translation research agendas are envisioned as an interdependent enterprise.

Background and objectives Perceptions about family members not contributing enough to caregiving are documented to create psychological stress among caregivers. This study investigated whether individuals' perception that family members are under-contributing in caregiving processes was associated with their psychological well-being and explored the factors that may contribute to such perception borrowing concepts from a previous study: malfeasance, nonfeasance, and uplift. Research design and methods Seventy-two members of 30 families recruited through residential and adult daycare settings provided information about 960 familial network members (e.g., family, friends). Perceived levels of participation in caregiving about each network member, whether the level met respondents' expectations, and interactions representing malfeasance, nonfeasance, and uplift were assessed. Results Number of family members respondents identified as under-contributing in caregiving was associated with higher, whereas numbers of family participating in caregiving and supportive staff were associated with lower distress (Center for Epidemiologic Studies Depression Scale [CES-D]). Factor analyses identified a set of social interactions among familial network members capturing three constructs: malfeasance, nonfeasance, and uplift. Network members for whom respondents reported higher levels of nonfeasance were more likely to be identified as under-contributing in direct care (odds ratio [OR] = 1.92), care decision making (OR = 1.89), and social support (OR = 1.74) compared with those identified as contributing enough. Members with higher levels of malfeasance were more likely to be identified as under-contributing in direct care (OR = 1.19) than those identified as contributing enough. Discussion and implications Social interactions characterized as nonfeasance may explain the perception of unmet expectations in caregiving within families and may represent a potential focus of family-level interventions.

Barriers to physical activity (PA) may be experienced differently by sex and country of birth. We examine psychosocial correlates of PA in four groups based on sex (boy/girl) and country of birth [Mexico/United States (U.S.)]. 1154 Mexican heritage adolescents residing in Houston, Texas provided psychosocial data in 2008-09 and PA (number of days per week active for at least 60 min) in 2010-11 (N = 1001). Poisson regression models were fitted for each groups. Among boys, English language preference (p US-born = 0.045, p Mexico-born = 0.008) and higher subjective social status (p US-born = 0.002, p Mexico-born = 0.031) were associated with increased PA. Body image dissatisfaction was associated with decreased PA in Mexico-born girls (p = 0.007). Sensation-seeking tendencies were associated with increased PA among all groups; anxiety was associated with decreased PA among all but U.S.-born boys. Tailoring PA interventions to key sex-specific psychosocial correlates rather than country of birth may enhance efficacy of interventions to increase PA levels among Mexican heritage adolescents.

Exposure to second-hand smoke (SHS) is a major public health problem and a risk factor for morbidity and mortality. The objective of this randomized trial was to estimate the impact of a culturally-sensitive intervention to reduce SHS exposure in Mexican-American households.A total of 91 households (with a child under 18 years of age and two adults, one of whom was a smoker) were recruited from a population-based cohort of Mexican-American households and randomized to receive the experimental intervention (EI; n=47) or standard care (SC; n=44). Of these, 74 households (83%) provided baseline, 6-month, and 12-month survey and nicotine monitor data (EI, n=39; SC, n=35). The EI materials, designed to increase the participants' likelihood of adopting a smoke-free indoor home air policy, included one culturally-appropriate bilingual comic book for children and two fotonovelas for adults.Ambient nicotine levels significantly decreased over the 12 study months (F=13.6, DF=147; p0.001); with a significantly greater decrease in the EI households compared to the SC households (F=4.1, DF=72; p0.05). At 12 months, 73% of EI households had banned smoking vs. 56% of SC households. Ambient nicotine levels, measured using nicotine air sampling monitors, were significantly associated with self-reported SHS exposure at the 12-month follow-up. Knowledge of the health effects of SHS increased from baseline to 6 and 12 months in the EI condition but not in the SC condition (F=6.0, DF=238; p0.01), and smokers and quitters in the EI group reported an increased perception of health vulnerability compared to those in the SC group.Our low-cost intervention impacted SHS-related knowledge and exposure among Mexican Americans. This culturally-appropriate intervention has the potential to decrease SHS-related health problems in the target population substantially.

Background. Due to shared health behaviors and disease risk, families may be more effective targets for health promotion. This study assessed whether providing family health history (FHH)–based risk information for heart disease and diabetes affected encouragement to engage in physical activity (PA) and healthy weight (HW) maintenance and co-engagement in physical activity among 320 Mexican-origin parents and their 1,081 children. Method. At baseline and 10 months, parents indicated who they encouraged and who encouraged them to engage in PA/HW, and with whom they co-engaged in PA. Households were randomized to receive FHH-based assessments either by one or all adult household members. Primary analyses consisted of regression analyses using generalized estimating equations. Results. At baseline, parents reported encouraging their child for both PA and HW in 37.6% of parent–child dyads and reported receiving children’s encouragement for both in 12.1% of dyads. These increased to 56.8% and 17.5% at 10 months ( p < .001). Co-engagement in PA increased from 11.4% to 15.7% ( p < .001), with younger children (30.4%) and mother–daughter dyads (26.8%) most likely to co-engage at 10 months. Providing FHH-based risk information to all adult household members (vs. one) was associated with increased parent-to-child encouragement of PA/HW ( p = .011) at 10 months but not child-to-parent encouragement. New encouragement from parent-to-child ( p = .048) and from child-to-parent ( p = .003) predicted new 10-month PA co-engagement. Discussion. Providing FHH information on a household level can promote parental encouragement for PA/HW, which can promote greater parent–child co-engagement in PA. In this high-risk population with a cultural emphasis on family ties, using FHH-based risk information for all adult household members may be a promising avenue to promote PA.

Introduction An accurate family health history is essential for individual risk assessment. This study uses a multiple-informant approach to examine whether family members have consistent perceptions of shared familial risk for four common chronic conditions (heart disease, Type 2 diabetes, high cholesterol, and hypertension) and whether accounting for inconsistency in family health history reports leads to more accurate risk assessment. Methods In 2012–2013, individual and family health histories were collected from 127 adult informants of 45 families in the Greater Cincinnati Area. Pedigrees were linked within each family to assess inter-informant (in)consistency regarding common biological family member's health history. An adjusted risk assessment based on pooled pedigrees of multiple informants was evaluated to determine whether it could more accurately identify individuals affected by common chronic conditions, using self-reported disease diagnoses as a validation criterion. Analysis was completed in 2015–2016. Results Inter-informant consistency in family health history reports was 54% for heart disease, 61% for Type 2 diabetes, 43% for high cholesterol, and 41% for hypertension. Compared with the unadjusted risk assessment, the adjusted risk assessment correctly identified an additional 7%–13% of the individuals who had been diagnosed, with a ≤2% increase in cases that were predicted to be at risk but had not been diagnosed. Conclusions Considerable inconsistency exists in individual knowledge of their family health history. Accounting for such inconsistency can, nevertheless, lead to a more accurate genetic risk assessment tool. A multiple-informant approach is potentially powerful when coupled with technology to support clinical decisions.

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. Refereed/Peer-reviewed

Purpose. To evaluate whether influence from social network members is associated with motivation to change dietary and physical activity behaviors. Design. Baseline assessment followed by mailing of family health history–based personalized messages (2 weeks) and follow-up assessment (3 months). Setting. Families from an ongoing population-based cohort in Houston, Texas. Subjects. 475 adults from 161 Mexican-origin families. Out of 347 households contacted, 162 (47%) participated. Measures. Family health history, social networks, and motivation to change behaviors. Analysis. Two-level logistic regression modeling. Results. Having at least one network member who encourages one to eat more fruits and vegetables (p = .010) and to engage in regular physical activity (p = .046) was associated with motivation to change the relevant behavior. About 40% of the participants did not have encouragers for these behaviors. Conclusions. Identification of new encouragers within networks and targeting natural encouragers (e.g., children, spouses) may increase the efficacy of interventions to motivate behavioral changes among Mexican-origin adults.

An understanding of health beliefs is key to creating culturally appropriate health services for Hispanic populations in the US. In this study we explore age-based variations in causal beliefs for heart disease and diabetes among Mexican origin adults in Houston, TX. This cross-sectional study included 497 adults of Mexican origin. Participants were asked to indicate the importance of biomedically defined and folk illness-related risk factors as causes for heart disease and diabetes. Biomedical risk factors were ranked highest as causes of diabetes and heart disease among all participants. Folk illness-related factors were ranked below biomedical factors as causes of heart disease among all age groups. Susto was ranked above the median as a risk factor for diabetes among older participants. Age-related differences in causal beliefs may have implications for designing culturally appropriate health services, such as tailored diabetes interventions for older Mexican origin adults.

Background Collecting family health history (FHH) information to share with healthcare providers is an important aspect of health-risk assessment. Purpose To examine associations between the content of FHH-informed risk feedback and willingness to share the information with a healthcare provider. Methods Data were collected between June 2008 and July 2009 from 475 Mexican-origin adults residing in 161 households. Participants completed surveys 3 months after receiving FHH-informed risk feedback. Households were randomly assigned to feedback conditions in which household members received one or more of the following: an FHH pedigree, personalized risk assessments (PRAs), and tailored behavioral recommendations. Logistic regression models were fitted using generalized estimating equations, with exchangeable covariances, to account for the clustering of responses within and the random assignment of feedback condition to household. Analyses were completed in May 2010. Results Participants who received personalized risk assessments were more willing to share their feedback with a provider than those who received a pedigree only (OR=2.25, p =0.02). The receipt of tailored behavioral recommendations did not significantly increase willingness to share feedback with a provider (OR=0.79, p =0.48). Conclusions The provision of PRAs in FHH assessments appears to motivate participants to consider sharing their FHH with a healthcare provider.

To assess beliefs about the role of diet in cancer prevention among individuals considering genetic testing for Lynch Syndrome.Family-centered, cascade recruitment; baseline assessment of a longitudinal study.Clinical research setting.Participants were 390 persons, ages 18 and older, including persons with a Lynch Syndrome-associated cancer and suspected of carrying a disease causing mutation, and relatives at risk for inheriting a previously identified mutation.Assess clustering of beliefs about the role of diet in cancer prevention and predictors of class membership.Confirmatory factor analysis; 2-class factor mixture model with binary indicators; multilevel regression analyses, individuals nested within families.Women endorsed a relationship between diet and cancer prevention more often than men (P .01). A 2-class model was used where Class 1 indicated less likely to link cancer to diet, and Class 2 indicated more likely. Factors associated with increased odds of membership in Class 1 expressed belief that nothing can prevent cancer (P.01) and fate attribution (P.01); Class 2 mentioned personal cancer history (P.05) and genetic knowledge (P.01).Identifying factors associated with a belief in cancer prevention through dietary behaviors can inform targeted interventions.

PURPOSE: The provision of genetic services often occurs in a cascading fashion within families experiencing inherited diseases. This study examines whether previous family experiences with genetic services influences levels of psychological well-being of family members receiving services later. METHODS: Two hundred ninety-seven persons from 38 families with Lynch syndrome completed questionnaires before receiving genetic services. Baseline levels of test-related distress, depressive symptoms, and cancer worries were assessed in relationship to the (1) amount of time elapsed since services were provided to the index case and (2) generation of the family member relative to the index case. RESULTS: Family members in the same generation as the index case experienced significant increases in test-related distress (P = 0.003) and cancer worry (P = 0.001) with increasing time between receipt of genetic test results by the index case and provision of services to family members. Change in the number of depressive symptoms was not significant (P = 0.17). CONCLUSION: The provision of genetic services through a cascading approach significantly increases distress and worry among family members within the same generation as the index case who receive services at increasingly distant time intervals. Additional research is needed to explore social influences after the introduction of genetic services.

BACKGROUND: Patients who receive conclusive genetic test results for hereditary nonpolyposis colorectal cancer (HNPCC) tend to adopt appropriate colorectal cancer screening behaviors and disclose their test results. However, little is known about the disclosure processes or screening behaviors of individuals who receive inconclusive genetic test results. This study compared endoscopy use and disclosure between individuals with positive and inconclusive genetic test results, within a year after results were received. METHODS: Individuals with a personal history of cancer and suspected of having HNPCC participated in genetics education and counseling, underwent HNPCC testing, and received genetic test results (GCT) within a prospective cohort study. Demographic, psychosocial, and behavioral data were obtained from questionnaires and interviews completed before and after GCT. RESULTS: Index cases with inconclusive genetic test results were less likely to screen within 12 months. Index cases who disclosed test results to children within 6 months were more likely to screen within 12 months, controlling for mutation status. Index cases with inconclusive genetic test results were less likely to share results with a healthcare provider within 6 months. Index cases who disclosed genetic test results to healthcare providers within 6 months were more likely to have endoscopy within 12 months. CONCLUSIONS: Genetic test results and disclosure significantly affected colon cancer screening at 12-month follow-up. Interventions to improve adherence to colorectal cancer screening should consider increased education of those receiving inconclusive results and encourage disclosure to healthcare providers and family members. Cancer 2009. Published 2009 by the American Cancer Society.

Purpose: This study evaluates the changes in social networks of older and younger breast cancer patients over a 6-month period following their fi rst diagnosis and how such modifi cations are associated with changes in the patients ’ mood state. Design and Methods: Newly diagnosed breast cancer patients were interviewed shortly after their diagnosis and again 6 months later. Female support network members enumerated by patients were interviewed once within 3 months of the patients ’ initial interview. Results: Findings based on information for 149 network members of 26 patients indicate that members in older ( ≥ 51 years) patients ’ networks were less likely to be dropped at follow-up (odds ratio [OR] = 0.21, p = .04) compared with those in younger patients ’ networks. Network members who provided more support were less likely to be dropped by younger patients (OR = 0.42, p < .01). Decrease in network size was associated with decrease in mood disturbances among younger patients (Profi le of Mood State–Bipolar: b = 0. 35, p ≤ .01). Implications: Reducing the number of network members after cancer diagnosis may not necessarily lead to psychological distress, providing support for selfregulation of social network resources among cancer patients. Older patients ’ network members were more embedded in patients ’ networks, making it more stable over time. Identifying important network members (e.g., frequent support providers for younger patients and family members for older patients) and facilitating positive social interactions between these network members and patients may be benefi cial.

Objectives: The emotional effects of genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) provided within a counseling program were assessed among 253 individuals. Methods: Assessments were scheduled at baseline before testing, and again after 6 and 12 months post-test. Negative emotional reactions were evaluated using the Revised Impact of Event Scale and the Center for Epidemiological Studies-Depression Scale. Monitoring coping style was assessed at baseline using the Miller Behavioral Style Scale. Results: Mean reductions were indicated in distress and depression levels within the first 6 months after counseling and testing. High monitors were generally more distressed than low monitors, specifically if they had indeterminate or positive results. Conclusions: Genetic counseling and testing for HNPCC do not result in long-term distress for most people. Of the variables investigated, only time and coping style have main effects on emotional reactions, and the impacts of mutation status are moderated by coping style. Psychological interventions, aimed to alleviate adverse emotional effects, were suggested for certain participants, i.e. recipients of positive or indeterminate results who are high monitors. Copyright © 2008 John Wiley & Sons, Ltd.

Purpose: To examine public preparedness to evaluate and respond to Angelina Jolie's well-publicized decision to have a prophylactic mastectomy. Methods: A consumer panel (n = 1,008) completed an online survey in November 2013, reporting exposure to Jolie's story, confidence applying genomic knowledge to evaluate her decision, and ability to interpret provided genetic risk information (genetic literacy skills). Linear and logistic regressions tested mediating/moderating models of these factors in association with opinions regarding mastectomies. Results: Confidence with genomics was associated with increased genetic literacy skills and increased media exposure, with a significant interaction between the two. Confidence was also associated with favoring mastectomies for women with BRCA mutations, mediating the relationship with media exposure. Respondents were more likely to form opinions about mastectomies if they had high genetic literacy skills. Conclusion: These findings suggest that having higher genetic literacy skills may increase the public's ability to form opinions about clinical applications of genomic discovery. However, repeated media exposure to high-profile stories may artificially inflate confidence among those with low genetic literacy.

Background: This study investigated diabetes and heart disease family health history (FHH) knowledge and changes after providing personalized disease risk feedback. Methods: A total of 497 adults from 162 families of Mexican origin were randomized by household to conditions based on feedback recipient and content. Each provided personal and relatives' diabetes and heart disease diagnoses and received feedback materials following baseline assessment. Multivariate models were fitted to identify factors associated with the rate of ‘don't know' FHH responses. Results: At baseline, US nativity was associated with a higher ‘don't know' response rate (p = 0.002). Though confounded by country of birth, younger age showed a trend toward higher ‘don't know' response rates. Overall, average ‘don't know' response rates dropped from 20 to 15% following receipt of feedback (p < 0.001). An intervention effect was noted, as ‘don't know' response rates decreased more in households where one family member (vs. all) received supplementary risk assessments (without behavioral recommendations; p = 0.011). Conclusions: Limited FHH knowledge was noted among those born in the US and younger participants, representing a key population to reach with intervention efforts. The intervention effect suggests that ‘less is more', indicating the potential for too much information to limit health education program effectiveness.

Background Despite well-established negative health consequences of smokeless tobacco use (STU), the number and variety of alternative non-combustible tobacco products on the market have increased tremendously over the last 10 years, as has the market share of these products relative to cigarettes. While STU among non-Hispanic white youth has decreased over the last 10 years, the prevalence has remained constant among Hispanic youth. Here we examine demographic, psychosocial, and genetic risk associated with STU among Mexican heritage youth. Methods Participants (50.5 % girls) reported on psychosocial risk factors in 2008–09 (n = 1,087, mean age = 14.3 years), and smokeless tobacco use in 2010–11 (mean age = 16.7 years). Participants provided a saliva sample that was genotyped for genes in the dopamine, serotonin and opioid pathways. Results Overall 62 (5.7 %) participants reported lifetime STU. We identified five single nucleotide polymorphisms that increased the risk for lifetime use. Specifically, rs2023902 on SERGEF (OR = 1.93; 95 % CI: 1.05-3.53), rs16941667 on ALDH2 (OR = 3.14; 95 % CI: 1.65-5.94), and rs17721739 on TPH1 (OR = 1.71; 95 % CI: 1.00-2.91) in the dopamine pathway, rs514912 on TRH-DE (OR = 1.84; 95 % CI: 1.25-2.71) in the serotonin pathway, and rs42451417 on the serotonin transporter gene, SLC6A4 (OR = 3.53; 95 % CI: 1.56-7.97). After controlling for genetic risk, being male (OR = 1.86; 95 % CI: 1.02-3.41), obesity status (OR = 2.22; 95 % CI: 1.21-4.09), and both higher levels of anxiety (OR = 1.04; 95 % CI: 1.01-1.08) and social disinhibition (OR = 1.26; 95 % CI: 1.07-1.48) were associated with increased use. High subjective social status (OR = 0.78; 95 % CI: 0.64-0.93) was protective against use, while higher parental education (OR = 2.01; 95 % CI: 1.03-3.93) was associated with increased use. Conclusions These data suggest that use of genetic risk, along with psychosocial, demographic, and behavioral risk factors may increase our ability to identify youth at increased risk for STU, which in turn may improve our ability to effectively target prevention messages to Mexican heritage youth.

This study demonstrates the added value to caregiving research by using a multi-informant social network approach within the context of Alzheimer's disease and related dementia.Sixty-six informants from 24 families enumerated caregiving network members in 2012. Comparisons were made between networks based on a single informant versus multiple informants in terms of network composition and caregiving roles, core-periphery structure, and identification of "missed opportunities" in recruitment.On average, each informant beyond the index enumerated 6.2 new members, resulting in about 10 new members per family network when the multiple-informant approach is used. Compared with index informants' networks, multi-informant networks showed an 85% increase in identification of direct care providers (1.71 compared with 3.42) and a 48% increase in identification of those involved in care decision making (3.33 compared with 4.92). Informants from the same network generally showed agreement in reported participation in caregiving activities. However, the reports of non-participation in these roles were less consistent among the informants. Resulting structure indicated a core caregiving network (M = 6.12 members), with semi-peripheral and peripheral members (M = 5.19 and M = 14.83 members, respectively).Results suggest that an iterative, targeted sampling approach with at least three informants allows for a more comprehensive assessment of caregiving processes. Applying this approach in future research will greatly enhance our knowledge and better inform future interventions to facilitate family adaptation.

Little is known about the effect of personalized risk information on risk perceptions over time, particularly among ethnically diverse subpopulations. The present study examines Mexican American’s (MAs) risk perceptions for heart disease and diabetes at baseline and following receipt of risk feedback based on family health history. Participants comprising 162 households received a pedigree or personalized risk feedback, with or without behavioral risk reduction recommendations. Multiple logistic regression analyses were used to assess lifetime perceived risk (LPR) at baseline, 3 months and 10 months following the receipt of risk feedback. Having an elevated familial risk of heart disease or diabetes increased the odds of an elevated LPR for both diseases at baseline. At 3 months, compared with receipt of a pedigree only, MAs receiving elevated risk feedback for both diseases were more likely to have an elevated LPR for both diseases. At 10 months, participants receiving weak risk feedback for both diseases indicated an adjustment to a lower LPR for heart disease only. Results suggest that communicating risk for multiple diseases may be more effective than a single disease, with responses to increased risk feedback more immediate than to weak risk feedback.

Genetic testing for hereditary cancer susceptibility syndromes is a family-centered process. Nonetheless, little research has explored how the family context affects psychological responses to genetic testing. We examine how personal test results and the test results of immediate and extended family members shape responses to genetic testing.Individuals at risk of carrying a mutation associated with an inherited cancer susceptibility syndrome (Lynch syndrome) received genetic testing. Six months after receiving their results, participants reported on cancer distress, cancer worry, and depressive symptoms.Among mutation carriers for Lynch syndrome, the higher the proportion of carriers in their immediate family, the less cancer worry and distress they reported. In contrast, mutation carriers and non-carriers with a high proportion of carriers in their immediate family and mutation carriers with a high proportion of carriers in their extended family were at elevated risk for clinically significant levels of depressive symptoms.Personal test results alone are not highly predictive of psychological outcomes. Instead, the interaction between personal and family test results, or in some cases, family test results alone, predict key psychological outcomes. The current research has important implications for genetic counseling and intervention efforts. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.

This study was conducted to gain evidence of validity for a nicotine dependence measure for adolescent smokers. We hypothesized that the individual item responses and the total Fagerstrom Tolerance Questionnaire (FTQ) score would be positively correlated with cotinine values. We examined the relationship between a seven-item modified FTQ and saliva continine among 131 adolescent volunteers in a smoking cessation program. As anticipated, the total FTQ score was related to saliva cotinine (r = .40, p < .01), as were six of the seven individual FTQ items (p < .05). Our findings provide preliminary evidence that the modified FTQ scale is valid and applicable to adolescent smokers.

Background: Major life transitions (e.g., graduation from high school) are times when many changes occur in a person’s social and physical environment. Men and women likely experience aspects of these changes differently. As a result, health-related behaviors likely change at these times with possible differences in these changes by gender. Methods: Gender differences in the performance of chronic disease risk-related behaviors (fruit, juice, and vegetable intake; physical activity; tobacco and alcohol use; and sexual practices) through the transition out of high school (HS) were assessed in a secondary analysis of a nationally representative sample from the 1992 National Health Interview Survey–Youth Risk Behavior Survey. The survey was completed by 5881 young people aged 14 to 21 years. Regression discontinuity analysis with piecewise regression was performed. Results: Statistically significant gender by transition effects were obtained for exercise/physical activity (decreases at the transition point for males), snuff use (decrease for females in HS), binge drinking and number of days drinking alcohol (increases for males at the transition point), and use of alcohol or drugs before sexual intercourse (decrease for females post HS). Fruit intake decreased for males and females and daily and heavy cigarette smoking increased during the HS years. Effect sizes were small but promising, given that the data set was not designed to test this hypothesis. Conclusion: These data offer evidence of differences by gender in chronic disease risk behaviors through the HS transition. Longitudinal studies are needed to assess the true nature of these differences, the tracking of these risk behaviors and their personal, social, and environmental determinants, including gender-specific determinants, that may explain these changes and inform future intervention development.

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), pp=.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.

Family-based physical activity (PA) interventions would benefit from research that identifies how to build support for PA among family members. This study examined the extent to which relationships of encouragement to do PA, and co-engagement in PA, exist among Mexican–American parents and children, and sought to identify individual, relational, and household factors associated with these dimensions of support. Participants were 224 Mexican-origin adults, with at least one child aged 5–20 years, participating in a larger study conducted between 2008 and 2010. In baseline surveys, adult participants enumerated the names and attributes of their family and kin; this study focuses on 455 parent–child dyads, nested in 118 households. Parental encouragement of PA in their children was found in about half of dyads, and in 20 % of dyads children encouraged parents. Encouragement relationships were highly reciprocal. Reciprocal parent–child encouragement was also positively associated with co-participation in PA; the latter found in just 17 % of dyads. Results indicated that relational, individual, and socio-cultural attributes were associated with PA support among parents and children, and provide insights into how these relationships might be fostered within Mexican–American families.

Objectives. We evaluated the effectiveness and spillover of an after-school health education and physical activity program among Hispanic elementary school children. Methods. In fall 2008, students in third through fifth grades in 6 schools in El Paso, Texas (n = 901), were randomized to intervention (n = 292 participants) or control (n = 354) classrooms (4 unknown). Intervention classrooms also contained a spillover group (n = 251) that did not join the after-school program but that completed measurements and surveys. The intervention was a 12-week culturally tailored after-school program meeting twice a week. Four-month outcomes were body mass index, aerobic capacity, and dietary intentions and knowledge. We calculated intervention exposure as the proportion of after-school participants per classroom. Results. Intervention exposure predicted lower body mass index (P = .045), higher aerobic capacity (P = .012), and greater intentions to eat healthy (P = .046) for the classroom at follow-up. Intervention effectiveness increased with increasing proportions of intervention participants in a classroom. Nonparticipants who had classroom contact with program participants experienced health improvements that could reduce their risk of obesity. Conclusions. Spillover of beneficial intervention effects to nonparticipants is a valuable public health benefit and should be part of program impact assessments.

Purpose: This study evaluates the role of older family members as providers of social resources within familial network systems affected by an inherited cancer susceptibility syndrome. Design and Methods: Respondents who previously participated in a study that involved genetic counseling and testing for Lynch syndrome and their family network members were invited to participate in a onetime telephone interview about family communication. Results: A total of 206 respondents from 33 families identified 2,051 social relationships (dyads). Nineteen percent of the respondents and 25% of the network members were older (≥60 years). Younger respondents (≤59 years) were more likely to nominate older network members as providers of social resources than younger members: instrumental support (odds ratio [OR] = 1.68), emotional support (OR = 1.71), help in crisis situation (OR = 2.04), and dependability when needed (OR = 2.15). Compared with younger network members, older members were more likely to be listed as encouragers of colon cancer screening by both younger (OR = 3.40) and older respondents (OR = 1.90) independent of whether support exchange occurred in the relationship. Implications: Engaging older network members in health interventions to facilitate screening behaviors and emotional well-being of younger members within families affected by inherited conditions may be beneficial. Findings can be used to empower older individuals about their important social roles in enhancing the well-being of their family members and to inform younger individuals about their older relatives’ resourcefulness to facilitate positive social interactions.

In families meeting criteria for hereditary non-polyposis colorectal cancer (HNPCC), genetic testing may or may not identify a mutation. Communication about genetic testing and risk in families with identified HNPCC mutations is associated with individual and relational factors. Similar communication patterns would be expected in families with similar clinical and pathological characteristics, but without an identified HNPCC mutation; however, previous studies have not included such families. Social network analysis was used to compare communication networks and associated individual and relational factors in families with and without identified HNPCC mutations. Respondents from families without identified mutations communicated about genetic counseling and testing and risk for HNPCC with a significantly smaller proportion of network members, compared to respondents from mutation-positive families. Members of families without identified mutations were also more likely to share thoughts about risk for HNPCC with network members whose advice they take, compared to members of families with known mutations. These findings extend our knowledge of communication in families at risk of HNPCC to include the many families in which a causative mutation has not yet been identified. Differences in the breadth of communication about genetics and risk for HNPCC, and the possibility that members of families without identified mutations may seek advice from those with whom they communicate about risk, provide new avenues for future research. Understanding existing communication patterns could help improve education and counseling processes, and facilitate the development of interventions designed to assist in family discussions of risk.

Lynch syndrome (LS) is the most common inherited form of colorectal cancer. Mutation carriers can reduce the morbidity and mortality associated with colorectal cancer through colonoscopy. Theoretical models suggest that such health-related behaviors might also bring psychological benefits. This study assessed whether colonoscopy following mutation detection was associated with the levels of depressive symptoms. Data were obtained from a prospective family cohort study offering genetic services for LS. Participants completed questionnaires prior to the provision of services and 6 months post-receipt of mutation results. One hundred thirty-four (134) persons were identified to carry a mutation and completed both the questionnaires. Main outcome measures were depressive symptoms 6 months post-receipt of test results. Mutation carriers who did not complete a colonoscopy within the 6 months following receipt of results were six times (p < 0.01; odds ratio = 6.06) more likely to report depressive symptoms at a level of clinical importance post-receipt of test results compared to those who did undergo colonoscopy. Facilitating the expeditious use of colonoscopy following mutation detection may benefit newly identified mutation carriers by addressing the objective risks for cancer and moderating underlying emotional distress responses to genetic risk information. Furthermore, depressive symptoms may interfere with behavioral compliance in some patients, suggesting referral to mental health specialists.

This study evaluates the extent to which psychological adaptation (validated measures of depressive symptoms, anxiety, and test-specific distress) after genetic susceptibility testing is influenced by changes in beliefs about Alzheimer's disease (AD) and sharing of test results with others. Adult children of AD patients (N=269) from a randomized clinical trial involving genetic testing for apolipoprotein E (APOE) provided information before, as well as 6 weeks and 12 months after results disclosure. The levels of adaptation varied highly among participants at 12-month assessment. Participants who learned that they were ɛ4 negative (lower risk) had a reduction in perceived risk and concern about developing AD compared with those who learned that they were ɛ4 positive. Those who received results through an extended educational protocol (three in-person visits) had a larger decline in AD concern than those in a condensed protocol (educational brochure and two in-person visits). Increase in AD concern 6 weeks after disclosure was associated with increase in depression scores (b=0.20, P

This study explored the extent to which recipients of genetic susceptibility testing for Alzheimer's disease (AD) communicated their results to others. It also examined demographic characteristics, along with beliefs about AD, associated with such communication. Participants (N = 271) in a randomized clinical trial involving genetic testing for Apolipoprotein E (APOE) gene variants among first-degree relatives of AD patients reported their communication behaviors 6 weeks after the results disclosure. Information on beliefs about AD and genetic testing was collected at baseline. Eighty-two percent of participants receiving APOE genotype information shared their results with someone. Specifically, 64% shared with family members, 51% with spouse or significant others, 35% with friends, and 12% with health care professionals. Greater AD treatment optimism was associated with communicating results to family (OR = 1.43), spouse (OR = 1.62), friends (OR = 1.81), and health care professionals (OR = 2.20). Lower perceived risk (OR = 0.98) and higher perceived importance of genetics in the development of AD (OR = 1.93) were associated with results communication in general. Lower perceived drawbacks of AD genetic testing was associated with results communication to friends (OR = 0.65). Beliefs about AD risks and causes, genetic testing, and development of treatments partly may determine the interpersonal communication patterns of genetic susceptibility test results.

Purpose: Known and suspected mutation carriers for hereditary nonpolyposis colorectal cancer are advised to have colonoscopies every 1 to 2 years to detect colorectal cancer. Little is known about colonoscopy completion in families suspected of having hereditary nonpolyposis colorectal cancer but without identified mutations. Methods: This study examined the effect of communication and encouragement on colonoscopy in families with and without known mutations. Twenty-three respondents from 11 families with indeterminate genetic test results were matched with 23 respondents from 11 families with mutation-positive results. Hierarchical modeling examined the effects of relational characteristics on time since last colonoscopy in index cases and their first-degree relatives. Results: Nearly one fifth of respondents were not screening appropriately. Time since last screening did not differ according to family mutation status. However, respondents who communicated about risk and received encouragement to screen from a greater proportion of named family members, and those who had a greater proportion of named family members involved in both communication and encouragement were significantly more likely to have a shorter time interval since last colonoscopy. Conclusion: Identifying patterns of interaction within at-risk families, regardless of gene mutation status, may be one avenue for promoting screening adherence.

Purpose—The associations between characteristics of family relationships and family trends in cancer worry and the psychological adjustment of recipients of genetic testing for cancer susceptibility were investigated. Methods—Data provided by 178 individuals from 24 families with Lynch syndrome who participated in a cohort study investigating psychological and behavioral outcomes of genetic testing were used. Responses from multiple family members were aggregated to construct family trends representing norms and departure from norms in cancer worry. Results—Lower perceived family cohesion at baseline and decrease in this variable at 6-months after receipt of test results were associated with higher depression scores at 12-months. More variability in cancer worry among family members at baseline was also associated with higher depression scores at 12-months. Increase in family conflict was associated with decrease in depression scores among individuals from families with higher levels of cancer worry on average and less variability among the members. Conclusions—Family relationships and family trends in levels of cancer worry may play important roles in the psychological adjustment of genetic test recipients. The findings highlight the complexity of familial environment surrounding individuals that undergo genetic testing and suggest the benefits of considering these factors when providing genetic services.

Objective: We investigated the association between psychological distress and indices of social integration and communal coping among sisters from hereditary breast and ovarian cancer (HBOC) families. Sample and methods: Sixty-five sisters from 31 HBOC families completed the Brief Symptom Inventory-18 and the Colored Eco-Genetic Relationship Map, which identified members of participants’ social support networks. Hierarchical linear models were used for all analyses to account for the clustering of sisters within families. Results: Intra-family correlation coefficients suggested that sisters shared perceptions of breast cancer risk and worry, but not ovarian cancer risk and worry. Further, sisters demonstrated shared levels of anxiety and somatization, but not depressive symptoms. Communal coping indices quantifying shared support resources were negatively related to anxiety and somatization. The number of persons with whom cancer risk information was shared exhibited a positive trend with somatization. Social integration, as measured by the size of participants’ emotional support network, was negatively associated with anxiety. Lower depression scores were observed among participants with more persons playing multiple support roles and fewer persons providing tangible assistance. Conclusion: Understanding how support relationships impact well-being among persons adjusting to HBOC risk, and the particular role of family in that process, will facilitate developing appropriate management approaches to help cancer-prone families adjust to their cancer risk. Published in 2008 by John Wiley & Sons Ltd.

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., Author Summary Promoters are regulatory regions that control transcription of genes. A special class of promoters, known as bidirectional promoters, regulates expression of two genes instead of one. These promoters are situated between two adjacent genes whose transcription start sites are physically within 1,000 bp and oriented in opposite directions. Bidirectional promoters are found repeatedly in the genome, suggesting an important biological significance for this regulatory configuration. We developed an algorithm to map bidirectional promoters using data from a comprehensive list of transcribed sequences known as expressed sequence tags, or ESTs. This approach improved the number of previously characterized bidirectional promoters by 300%. Included in the new data are bidirectional promoters that regulate expression of genes implicated in somatic cancers. For instance, ten well-recognized genes implicated in breast and ovarian cancers were identified as having bidirectional promoters. Three of the genes are further related by having duplicate copies of the same binding site for a transcription factor within their bidirectional promoters. These binding sites are conserved among species, providing greater evidence that they are functionally important. This example, in which similar regulatory structures are used to control genes involved in cancer, illustrates how data can be mined from the comprehensive set of bidirectional promoters. Within this manuscript, we show statistical evidence that many cancer genes are regulated by bidirectional promoters. These promoters will be a valuable dataset for studying the role of gene regulation in tumor development.

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

This study's aim was to ascertain hereditary nonpolyposis colorectal cancer (HNPCC) families' views on the duty to inform with particular focus on the role of health professionals in disseminating familial genetic information. Eighty members of 16 families with a clinical or molecular diagnosis of HNPCC completed qualitative interviews regarding views on family members' right to know and who should disseminate familial genetic information. Most indicated that everyone in the family should know about the presence of a mutation in the family, with family members themselves being the preferable informant, supported by health professionals who were seen as helpful in overcoming barriers. All but one respondent indicated that if a parent did not test and presumably did not inform his/her child about the family mutation, the child should be informed by other family members or by a health professional. Many were attuned to confidentiality concerns, but judged them to be outweighed by the importance of family members knowing about the mutation and undertaking proper surveillance. Respondents were more private about the disclosure of individual results to other family members, clearly distinguishing personal results from familial genetic information. These families with a hereditary colon cancer syndrome favor open sharing of genetic information within the family, and desire the supportive involvement of health care professionals in disseminating genetic information.