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1.  Willingness of Mexican-American Adults to Share Family Health History with Healthcare Providers 
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: a FHH pedigree; personalized risk assessments; 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.
doi:10.1016/j.amepre.2011.02.013
PMCID: PMC3104291  PMID: 21565656
3.  Characteristics of Health Information Gatherers, Disseminators, and Blockers Within Families at Risk of Hereditary Cancer: Implications for Family Health Communication Interventions 
American journal of public health  2009;99(12):2203-2209.
Objectives
Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blockers of health information within families at high genetic risk of cancer.
Methods
A total of 5466 personal network members of 183 female participants of the Breast Imaging Study from 124 families with known mutations in the BRCA1/2 genes (associated with high risk of breast, ovarian, and other types of cancer) were identified by using the Colored Eco-Genetic Relationship Map (CEGRM). Hierarchical nonlinear models were fitted to characterize information gatherers, disseminators, and blockers.
Results
Gatherers of information were more often female (P<.001), parents (P<.001), and emotional support providers (P<.001). Disseminators were more likely female first- and second-degree relatives (both P<.001), family members in the older or same generation as the participant (P<.001), those with a cancer history (P<.001), and providers of emotional (P<.001) or tangible support (P<.001). Blockers tended to be spouses or partners (P<.001) and male, first-degree relatives (P<.001).
Conclusions
Our results provide insight into which family members may, within a family-based intervention, effectively gather family risk information, disseminate information, and encourage discussions regarding shared family risk.
doi:10.2105/AJPH.2008.154096
PMCID: PMC2775786  PMID: 19833996
4.  Social influence and motivation to change health behaviors among Mexican origin adults: Implications for diet and physical activity 
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, TX.
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.
doi:10.4278/ajhp.100107-QUAN-2
PMCID: PMC3252202  PMID: 22208416
social influence; behavioral motivation; family health history; Mexican American; Manuscript format: research; Research purpose: modeling/relationship testing; Study design: quasi-experimental; Outcome measure: cognitive; Setting: family, local community; Health focus: fitness/physical activity, nutrition; Strategy: education; Target population age: adults; Target population circumstances: Mexican American, Houston, TX
5.  African Americans’ Responses to Genetic Explanations of Lung Cancer Disparities and Willingness to Participate in Clinical Genetics Research 
Purpose
To assess whether reactions to genetic explanations for disparities in lung cancer incidence among family members of African American patients with lung cancer are associated with willingness to participate in clinical genetics research.
Methods
Data are reported for 67 self-identified African Americans ages 18 to 55 years who completed a telephone survey assessing reactions to explanations (i.e., genetics, toxin exposure, menthol cigarettes, race-related stress) for lung cancer disparities. Majority was female (70%), current smokers (57%), and patients’ biological relatives (70%).
Results
Family members’ rated the four explanations similarly, each as believable, fair and not too worrisome. Participants also indicated a high level of willingness to participate in genetics research (M= 4.1 ± 1.0; Scale 1–5). Endorsements of genetics explanations for disparities as believable and fair, and toxin exposure as believable were associated significantly with willingness to participate in genetics research.
Conclusion
These results suggest that strategies to encourage African Americans’ participation in genetics research would do well to inform potential participants of how their involvement might be used to better understand important environmental factors that affect health disparities.
doi:10.1097/GIM.0b013e3181e5e513
PMCID: PMC3518377  PMID: 20613544
African Americans; lung cancer disparities; willingness to participate; clinical genetics research; psychosocial factors
6.  The Importance of Older Family Members in Providing Social Resources and Promoting Cancer Screening in Families With a Hereditary Cancer Syndrome 
The Gerontologist  2011;51(6):833-842.
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.
doi:10.1093/geront/gnr049
PMCID: PMC3220664  PMID: 21562055
Social relationships; Social support; Cancer screening; Lynch syndrome; Communication
7.  Exploring dispositional tendencies to seek online information about direct-to-consumer genetic testing 
ABSTRACT
Varying perspectives exist regarding the implications of genetic susceptibility testing for common disease, with some anticipating adverse effects and others expecting positive outcomes; however, little is known about the characteristics of people who are most likely to be interested in direct-to-consumer genetic testing. To that end, this study examines the association of individual dispositional differences with health risk perceptions and online information seeking related to a free genetic susceptibility test. Healthy adults enrolled in a large health maintenance organization were surveyed by telephone. Eligible participants (N = 1,959) were given access to a secure website that provided risk and benefit information about a genetic susceptibility test and given the option to be tested. Neuroticism was associated with increased perceptions of disease risk but not with logging on. Those scoring high in conscientiousness were more likely to log on. We found no evidence that neuroticism, a dispositional characteristic commonly linked to adverse emotional response, was predictive of online genetic information seeking in this sample of healthy adults.
doi:10.1007/s13142-012-0159-y
PMCID: PMC3717920  PMID: 24073142
Direct-to-consumer genetic tests; Information seeking; Perceived risk; Individual differences
9.  Sitting time and health outcomes among Mexican origin adults: obesity as a mediator 
BMC Public Health  2012;12:896.
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.
doi:10.1186/1471-2458-12-896
PMCID: PMC3527190  PMID: 23092387
Sitting time; Diabetes; Obesity; Hypertension; Hispanic
10.  Understanding Patterns of Health Communication in Families At Risk For Hereditary Non-Polyposis Colorectal Cancer: Examining the Effect of Conclusive vs. Indeterminate Genetic Test Results 
Health communication  2011;26(7):587-594.
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.
doi:10.1080/10410236.2011.558338
PMCID: PMC3144288  PMID: 21512927
11.  Colonoscopy use following mutation detection in Lynch syndrome: Exploring a role for cancer screening in adaptation 
Clinical genetics  2011;79(4):321-328.
Lynch syndrome 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 levels of depressive symptoms.
Data were obtained from a prospective family cohort study offering genetic services for Lynch syndrome. 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 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 6 times (p<0.01; OR=6.06) more likely to report depressive symptoms at a level of clinical importance 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. Further, depressive symptoms may interfere with behavioral compliance in some patients, suggesting referral to mental health specialists.
doi:10.1111/j.1399-0004.2010.01622.x
PMCID: PMC3407565  PMID: 21204803
Colonoscopy; health behavior; genetic testing; HNPCC / Lynch syndrome
12.  The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study 
European Journal of Human Genetics  2010;18(12):1296-1301.
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<0.01) and anxiety levels (b=0.20, P<0.01), and higher distress associated with AD genetic testing (b=0.18, P=0.02) 1 year after testing. Increase in perceived risk (b=0.16, P=0.04) was also associated with higher AD genetic testing distress. Sharing the test results with health professionals and friends (but not family) was associated with decrease in depression (b = −0.11, P = 0.05) and anxiety levels (b=−0.16, P<0.01), respectively after a year. Enhancing discussion with regard to risks and concerns about AD during pretesting counseling and obtaining support through sharing the results after testing may help facilitate test recipients' long-term psychological adaptation.
doi:10.1038/ejhg.2010.119
PMCID: PMC2988099  PMID: 20664629
susceptibility genetic testing; AD; APOE; results disclosure; communication; risk perceptions
13.  “The Cancer Bond”: Exploring the Formation of Cancer Risk Perception in Families with Lynch Syndrome 
Journal of genetic counseling  2010;19(5):473-486.
This study explores the social context of hereditary cancer risk perception in three families, an African-American family, a Mexican-American family, and a Caucasian family, each with Lynch Syndrome documented by a mismatch repair gene mutation. Communication network assessments measured family communication about cancer experiences and genetic testing information among a total of 26 participants. Participant narratives were evaluated to gain insight into how family cancer experiences and genetic testing information have shaped perceptions of cancer risk. Analysis of communication networks indicated that some families discussed cancer experiences to a greater extent than genetic testing information, and vice-versa. Interviews elucidated that sharing both types of health information led participants to conceptualize linkages among a strong family history of cancer, genetic testing information, and cancer prevention strategies. Understanding how different types of family communication influence the formation of perceived hereditary disease risk may enhance efforts to tailor genetic counseling services for families.
doi:10.1007/s10897-010-9299-8
PMCID: PMC2940987  PMID: 20401527
Risk perception; Family communication; Genetic testing; Lynch Syndrome; Genetic counseling
14.  Sisters in hereditary breast and ovarian cancer families: communal coping, social integration, and psychological well-being† 
Psycho-oncology  2008;17(8):812-821.
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.
doi:10.1002/pon.1373
PMCID: PMC3125979  PMID: 18688790
social support; communal coping; hereditary breast and ovarian cancer; sisters; psychological distress
15.  Explanations of risk in families without identified mutations for hereditary nonpolyposis colorectal cancer 
Purpose
Genetic testing for hereditary forms of cancer does not always identify a causative mutation. Little is known about personal or family response to these indeterminate results when a hereditary form of cancer is suspected. This study explored thoughts about and responses to risk for hereditary non-polyposis colorectal cancer (HNPCC) when a family member has received indeterminate genetic test results.
Design
In this qualitative study, data were gathered from index cases who received indeterminate genetic test results through a longitudinal study offering genetic counseling and testing for HNPCC. First-degree relatives of these indeterminate index cases were also invited to participate in the qualitative interview.
Methods
Semi-structured telephone interviews were conducted with index cases and their at-risk first-degree relatives. Data were analyzed using the within- and across-case method.
Findings
The across-case analysis led to the development of the Awareness and Surveillance Trajectory, which describes individual interpretations of and responses to risk, based on personal and family history. Explanations of risk addressed the meaning of cancer in the family and provided context for individual interpretations. They were identified using within-case analysis and organized into a typology: innate, exceptional, idiosyncratic, and undeveloped explanations.
Conclusions
Members of families without identified HNPCC mutations vary in their explanations for, interpretations of, and responses to indeterminate genetic test results.
Clinical Relevance
Explanations of family risk and interpretations of individual risk offer health care providers valuable information. In combination with the Awareness and Surveillance Trajectory, assessment of these beliefs can facilitate development of individualized recommendations and strategies for possible preventive actions.
doi:10.1111/j.1547-5069.2010.01342.x
PMCID: PMC3032942  PMID: 20618598
16.  Motivation for Health Screening: Evaluation of Social Influence Among Mexican-American Adults 
Background:
Americans of Mexican origin are at high risk for developing cardiovascular disease.
Purpose:
To evaluate the associations between the presence of social network members who encourage screening and individuals' motivation to undergo three types of health screening: blood cholesterol, blood pressure, and blood glucose. The distinct roles of encouragers from different generations (older, same, and younger) were evaluated.
Methods:
Adults of Mexican origin (N = 452) aged 20–75 years from 162 households in Houston, TX were included in this cross-sectional study by completing surveys in 2008 regarding their intentions to screen, health behaviors, illness beliefs, social networks, and family health history in either English or Spanish. Data were analyzed in 2009.
Results:
About one third of the participants reported having at least one same-generation network member who encouraged screening; smaller proportions reported having at least one older- (17% to 19%) and one younger-generation (11% to 12%) encourager. The presence of at least one older-generation encourager was associated with higher levels of intention to screen for all three screenings controlling for sociodemographic characteristics and illness beliefs. Having at least one same-generation encourager was associated with higher levels of intention to screen for blood cholesterol.
Conclusions:
Social influence may play an important role in motivating individuals to engage in screenings. Network-based intervention involving older individuals to provide encouragement to younger network members should be explored as a means to increase motivation to screen among this population
doi:10.1016/j.amepre.2009.12.028
PMCID: PMC2844878  PMID: 20307808
17.  Disclosing the disclosure: Factors associated with communicating the results of genetic susceptibility testing for Alzheimer’s disease 
Journal of health communication  2009;14(8):768-784.
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 may partly determine the interpersonal communication patterns of genetic susceptibility test results.
doi:10.1080/10810730903295518
PMCID: PMC2801901  PMID: 20029710
Susceptibility genetic testing; Alzheimer’s disease; APOE communication; disclosure
18.  The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study 
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 ε4 negative (lower risk) had a reduction in perceived risk and concern about developing AD compared with those who learned that they were ε4 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<0.01) and anxiety levels (b=0.20, P<0.01), and higher distress associated with AD genetic testing (b=0.18, P=0.02) 1 year after testing. Increase in perceived risk (b=0.16, P=0.04) was also associated with higher AD genetic testing distress. Sharing the test results with health professionals and friends (but not family) was associated with decrease in depression (b= −0.11, P=0.05) and anxiety levels (b= −0.16, P<0.01), respectively after a year. Enhancing discussion with regard to risks and concerns about AD during pretesting counseling and obtaining support through sharing the results after testing may help facilitate test recipients' long-term psychological adaptation.
doi:10.1038/ejhg.2010.119
PMCID: PMC2988099  PMID: 20664629
susceptibility genetic testing; AD; APOE; results disclosure; communication; risk perceptions
19.  Communication, Encouragement, and Cancer Screening in Families With and Without Mutations for Hereditary Non-Polyposis Colorectal Cancer: A Pilot Study 
Purpose
Known and suspected mutation carriers for hereditary nonpolyposis colorectal cancer are advised to have colonoscopies every 1-2 years to detect colorectal cancer. Little is known about colonoscopy completion in families suspected of having hereditary non-polyposis 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.
doi:10.1097/GIM.0b013e3181b3f42d
PMCID: PMC2917812  PMID: 19707152
Hereditary non-polyposis colorectal cancer; cancer screening; communication; encouragement; indeterminate genetic test results
20.  Colon cancer screening practices and disclosure following receipt of positive or inconclusive genetic test results for Hereditary Non-Polyposis Colorectal Cancer 
Cancer  2009;115(18):4071-4079.
Background
People who receive conclusive genetic test results for hereditary non-polyposis 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 genetic 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 health care provider within 6 months. Index cases who disclosed genetic test results to health care 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 health care providers and family members
doi:10.1002/cncr.24478
PMCID: PMC2826177  PMID: 19536903
hereditary non-polyposis colorectal cancer; health behavior; cancer screening
21.  Changes in Female Support Network Systems and Adaptation After Breast Cancer Diagnosis: Differences Between Older and Younger Patients 
The Gerontologist  2009;49(4):549-559.
Purpose: This study evaluates the changes in social networks of older and younger breast cancer patients over a 6-month period following their first diagnosis and how such modifications 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 (Profile of Mood State–Bipolar: β = 0. 35, p ≤ .01). Implications: Reducing the number of network members after cancer diagnosis may not necessarily lead to psychological distress, providing support for self-regulation 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 beneficial.
doi:10.1093/geront/gnp048
PMCID: PMC2733765  PMID: 19465702
Social relationships; Social support; Cancer survivor; Social selectivity; Psychological adaptation
22.  Adolescent Obesity and Social Networks 
Preventing Chronic Disease  2009;6(3):A99.
The prevalence of overweight among children worldwide is growing at an alarming rate. Social relationships may contribute to the development of obesity through the interaction of biological, behavioral, and environmental factors. Although there is evidence that early environment influences the expression of obesity, very little research elucidates the social context of obesity among children or adolescents. Social network approaches can contribute to research on the role of social environments in overweight and obesity and strengthen interventions to prevent disease and promote health. By capitalizing on the structure of the network system, a targeted intervention that uses social relationships in families, schools, neighborhoods, and communities may be successful in encouraging healthful behaviors among children and their families.
PMCID: PMC2722403  PMID: 19527601
23.  The impact of familial environment on depression scores after genetic testing for cancer susceptibility 
Clinical genetics  2008;75(1):43-49.
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.
doi:10.1111/j.1399-0004.2008.01104.x
PMCID: PMC2615793  PMID: 19021640
cancer worry; CES-D; family relationships; genetic testing; Hereditary Nonpolyposis Colorectal Cancer; Lynch syndrome; social environment
24.  Comprehensive Annotation of Bidirectional Promoters Identifies Co-Regulation among Breast and Ovarian Cancer Genes 
PLoS Computational Biology  2007;3(4):e72.
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.
doi:10.1371/journal.pcbi.0030072
PMCID: PMC1853124  PMID: 17447839
25.  Comprehensive Annotation of Bidirectional Promoters Identifies Co-Regulation among Breast and Ovarian Cancer Genes 
PLoS Computational Biology  2007;3(4):e72.
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.
doi:10.1371/journal.pcbi.0030072
PMCID: PMC1853124  PMID: 17447839

Results 1-25 (26)