Stakeholders' perceptions of ways to support decisions about health insurance marketplace enrollment: a qualitative study.

BACKGROUND: Approximately 29 million individuals are expected to enroll in health insurance using the Patient Protection and Affordable Care Act (ACA) Marketplace by 2022. Those seeking health insurance struggle to understand insurance options and choose a plan that best suits their needs. METHODS: We interviewed stakeholders to identify the challenges associated with the ACA Marketplace health insurance enrollment and elicited feedback about what to include in health insurance decision support tools. Interviews were transcribed and themes were identified using inductive thematic analysis. RESULTS: Stakeholders stated that consumers felt frustrated by unclear terminology, high plan costs, and complex calculations required to assess costs. Consumers felt anxious about making the wrong choice and being unable to change plans within a calendar year. Stakeholders recommended using plain language tables defining complex terms, grouping information, and using engaging graphics to communicate information about health insurance. Stakeholders thought that narratives of how others made decisions about insurance might be helpful to consumers, but recommended that they be tailored to the needs of specific consumers. CONCLUSION: Strategies that clarify health insurance terms using plain language and graphics, acknowledge concern associated with making the wrong choice, calculate and enable cost comparison, and tailor information to consumers' unique needs could benefit those enrolling in ACA Marketplace plans, Narratives developed should be simple and inclusive enough for diverse populations.

Multigene testing of moderate-risk genes: be mindful of the missense.

BACKGROUND: Moderate-risk genes have not been extensively studied, and missense substitutions in them are generally returned to patients as variants of uncertain significance lacking clearly defined risk estimates. The fraction of early-onset breast cancer cases carrying moderate-risk genotypes and quantitative methods for flagging variants for further analysis have not been established. METHODS: We evaluated rare missense substitutions identified from a mutation screen of ATM, CHEK2, MRE11A, RAD50, NBN, RAD51, RINT1, XRCC2 and BARD1 in 1297 cases of early-onset breast cancer and 1121 controls via scores from Align-Grantham Variation Grantham Deviation (GVGD), combined annotation dependent depletion (CADD), multivariate analysis of protein polymorphism (MAPP) and PolyPhen-2. We also evaluated subjects by polygenotype from 18 breast cancer risk SNPs. From these analyses, we estimated the fraction of cases and controls that reach a breast cancer OR≥2.5 threshold. RESULTS: Analysis of mutation screening data from the nine genes revealed that 7.5% of cases and 2.4% of controls were carriers of at least one rare variant with an average OR≥2.5. 2.1% of cases and 1.2% of controls had a polygenotype with an average OR≥2.5. CONCLUSIONS: Among early-onset breast cancer cases, 9.6% had a genotype associated with an increased risk sufficient to affect clinical management recommendations. Over two-thirds of variants conferring this level of risk were rare missense substitutions in moderate-risk genes. Placement in the estimated OR≥2.5 group by at least two of these missense analysis programs should be used to prioritise variants for further study. Panel testing often creates more heat than light; quantitative approaches to variant prioritisation and classification may facilitate more efficient clinical classification of variants.

Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.

While experts have made recommendations, information is needed regarding what genome sequencing results patients would want returned. We investigated what results women diagnosed with breast cancer at a young age would want returned and why. We conducted 60 semi-structured, in-person individual interviews with women diagnosed with breast cancer at age 40 or younger. We examined interest in six types of incidental findings and reasons for interest or disinterest in each type. Two coders independently coded interview transcripts; analysis was conducted using NVivo 10. Most participants were at least somewhat interested in all six result types, but strongest interest was in actionable results (i.e. variants affecting risk of a preventable or treatable disease and treatment response). Reasons for interest varied between different result types. Some participants were not interested or ambivalent about results not seen as currently actionable. Participants wanted to be able to choose what results are returned. Participants distinguished between types of individual genome sequencing results, with different reasons for wanting different types of information. The findings suggest that a focus on actionable results can be a common ground for all stakeholders in developing a policy for returning individual genome sequencing results.

Characteristics of genetics-related news content in Black weekly newspapers.

UNLABELLED: BACKGROUND/AIMS/OBJECTIVES: The media are an important source of health information, especially for those with less access to regular health care. Black news outlets such as Black newspapers are a source of health information for African Americans. This study characterized media coverage of genetics-related information in Black weekly newspapers and general audience newspapers from the same communities. METHODS: All health stories in a sample of 24 Black weekly newspapers and 12 general audience newspapers from January 2004 to December 2007 were reviewed for genetics-related stories. These stories were further coded for both journalistic and public health variables. RESULTS: Of all health-related stories identified, only 2% (n = 357) were considered genetics related. Genetics-related stories in Black newspapers - compared to those in general audience newspapers - were larger, more locally and racially relevant, and more likely to contain recommendations or action steps to improve health or reduce disease risks and to mention the importance of knowing one's family history. Stories in general audience newspapers were more likely to discuss causes of disease, mention genetic testing or therapy, and suggest a high/moderate degree of genetic determinism. CONCLUSIONS: Black newspapers are a viable communication channel to disseminate findings and implications of human genome research to African American audiences.

Effects of informed consent for individual genome sequencing on relevant knowledge.

Increasing availability of individual genomic information suggests that patients will need knowledge about genome sequencing to make informed decisions, but prior research is limited. In this study, we examined genome sequencing knowledge before and after informed consent among 311 participants enrolled in the ClinSeq™ sequencing study. An exploratory factor analysis of knowledge items yielded two factors (sequencing limitations knowledge; sequencing benefits knowledge). In multivariable analysis, high pre-consent sequencing limitations knowledge scores were significantly related to education [odds ratio (OR): 8.7, 95% confidence interval (CI): 2.45-31.10 for post-graduate education, and OR: 3.9; 95% CI: 1.05, 14.61 for college degree compared with less than college degree] and race/ethnicity (OR: 2.4, 95% CI: 1.09, 5.38 for non-Hispanic Whites compared with other racial/ethnic groups). Mean values increased significantly between pre- and post-consent for the sequencing limitations knowledge subscale (6.9-7.7, p < 0.0001) and sequencing benefits knowledge subscale (7.0-7.5, p < 0.0001); increase in knowledge did not differ by sociodemographic characteristics. This study highlights gaps in genome sequencing knowledge and underscores the need to target educational efforts toward participants with less education or from minority racial/ethnic groups. The informed consent process improved genome sequencing knowledge. Future studies could examine how genome sequencing knowledge influences informed decision making.

Skin cancer concerns and genetic risk information-seeking in primary care.

BACKGROUND: Genomic testing for common genetic variants associated with skin cancer risk could enable personalized risk feedback to motivate skin cancer screening and sun protection. METHODS: In a cross-sectional study, we investigated whether skin cancer cognitions and behavioral factors, sociodemographics, family factors, and health information-seeking were related to perceived importance of learning about how (a) genes and (b) health habits affect personal health risks using classification and regression trees (CART). RESULTS: The sample (n = 1,772) was collected in a large health maintenance organization as part of the Multiplex Initiative, ranged in age from 25-40, was 53% female, 41% Caucasian, and 59% African-American. Most reported that they placed somewhat to very high importance on learning about how genes (79%) and health habits (88%) affect their health risks. Social influence actors were associated with information-seeking about genes and health habits. Awareness of family history was associated with importance of health habit, but not genetic, information-seeking. CONCLUSIONS: The investment of family and friends in health promotion may be a primary motivator for prioritizing information-seeking about how genes and health habits affect personal health risks and may contribute to the personal value, or personal utility, of risk information. Individuals who seek such risk information may be receptive to interventions aimed to maximize the social implications of healthy lifestyle change to reduce their health risks.

Age differences in genetic knowledge, health literacy and causal beliefs for health conditions.

OBJECTIVES: This study examined the levels of genetic knowledge, health literacy and beliefs about causation of health conditions among individuals in different age groups. METHODS: Individuals (n = 971) recruited through 8 community health centers in Suffolk County, New York, completed a one-time survey. RESULTS: Levels of genetic knowledge were lower among individuals in older age groups (26-35, p = 0.011; 36-49, p = 0.002; 50 years and older, p<0.001) compared to those in the youngest age group (18-25). Participants in the oldest age group also had lower health literacy than those in the youngest group (p <0.001). Those in the oldest group were more likely to endorse genetic (OR = 1.87, p = 0.008) and less likely to endorse behavioral factors like diet, exercise and smoking (OR = 0.55, p = 0.010) as causes of a person's body weight than those in the youngest group. Higher levels of genetic knowledge were associated with higher likelihood of behavioral attribution for body weight (OR = 1.25, p <0.001). CONCLUSIONS: Providing additional information that compensates for their lower genetic knowledge may help individuals in older age groups benefit from rapidly emerging genetic health information more fully. Increasing the levels of genetic knowledge about common complex diseases may help motivate individuals to engage in health promoting behaviors to maintain healthy weight through increases in behavioral causal attributions.

Educating underserved Latino communities about family health history using lay health advisors.

BACKGROUND: Family health history (FHH) is a tool used to inform individuals about inherited disease risk. Due to their disproportionate morbidity and mortality from some common chronic diseases, U.S. Latinos are an important audience for FHH information. This study examined the effects of a culturally-tailored intervention led by lay health advisors (LHAs) in delivering information about FHH on participants' intentions, self-efficacy, and conceptual knowledge. METHODS: 474 Spanish-speaking Latino participants were enrolled in the study. Individuals in the intervention group participated in a single group educational session using discussion and interactive activities to build skills for discussing FHH with one's family members and doctor, while individuals in the comparison group had a brochure read aloud to them. Pre- and post-test questionnaires were verbally administered. RESULTS: Primary dependent variables were intentions and self-efficacy to discuss FHH with family members and doctors; these increased in both groups. Multivariate analyses demonstrated that the intervention led to a significantly greater increase in self-efficacy to discuss FHH with family members (p = 0.03). LHA participants were also more than twice as likely (OR = 2.6, 95% CI = 1.3-5.0) to correctly understand the purpose of a FHH and found FHH information more useful (p < 0.0001). CONCLUSIONS: A communication intervention delivered by LHAs shows promise as an effective means of educating underserved Spanish-speaking Latinos about the importance of FHH for disease prevention. Such community-based approaches can help to close knowledge and skills gaps about FHH and increase confidence in using this information to improve the health of those most at risk.

Communicating genetic and genomic information: health literacy and numeracy considerations.

Genomic research is transforming our understanding of the role of genes in health and disease. These advances, and their application to common diseases that affect large segments of the general population, suggest that researchers and practitioners in public health genomics will increasingly be called upon to translate genomic information to individuals with varying levels of health literacy and numeracy. This paper discusses the current state of research regarding public understanding of genetics and genomics, the influence of health literacy and numeracy on genetic communication, and behavioral responses to genetic and genomic information. The existing research suggests that members of the general public have some familiarity with genetic and genomic terms but have gaps in understanding of underlying concepts. Findings from the limited research base to date indicate that health literacy affects understanding of print and oral communications about genetic and genomic information. Numeracy is also likely to be an important predictor of being able to understand and apply this information, although little research has been conducted in this area to date. In addition, although some research has examined behavior change in response to the receipt of information about genetic risk for familial disorders and genomic susceptibility to common, complex diseases, the effects of health literacy and numeracy on these responses have not been examined. Potential areas in which additional research is needed are identified and practical suggestions for presenting numeric risk information are outlined. Public health genomics researchers and practitioners are uniquely positioned to engage in research that explores how different audiences react to and use genomic risk information.

Risk perceptions and family history of lung cancer: differences by smoking status.

BACKGROUND: Individuals with a family history of lung cancer have a two- to threefold increased risk for developing this disease. Family history information may be useful in lung cancer prevention and control approaches, but research is needed regarding how individuals interpret this information. This study examined associations between lung cancer family history and individuals' risk perceptions, based on smoking status. METHODS: Data were analyzed from 5,105 U.S. adult respondents to the 2005 Health Information National Trends Survey, which was conducted with a nationally representative sample. RESULTS: In multivariate models, family history of lung cancer was positively associated with absolute and relative risk perceptions among all respondents (ß=0.60, 95% CI=0.33-0.87 and ß=0.17, 95% CI=0.04-0.31, respectively) and among never smokers (ß=0.40, 95% CI=0.14-0.67 and ß=0.14, 95% CI=0.01-0.27, respectively). However, these associations were not significant for current and former smokers. CONCLUSION: While perceived risk was associated with family history of lung cancer among never smokers, this was not true for other smoking status subgroups. Therefore, former and current smokers might not respond as intended to cancer prevention or cessation messages tailored based on family history. The results suggest directions for future research into how to best integrate family history information into prevention and control efforts.

Views of female breast cancer patients who donated biologic samples regarding storage and use of samples for genetic research.

Although social and ethical issues related to the storage and use of biologic specimens for genetic research have been discussed extensively in the medical literature, few empiric data exist describing patients' views. This qualitative study explored the views of 26 female breast cancer patients who had consented to donate blood or tissue samples for breast cancer research. Participants generally did not expect personal benefits from research and had few unprompted concerns. Few participants had concerns about use of samples for studies not planned at the time of consent. Some participants did express concerns about insurance or employment discrimination, while others believed that current privacy protections might actually slow breast cancer research. Participants were generally more interested in receiving individual genetic test results from research studies than aggregate results. Most participants did not want individual results of uncertain clinical significance, although others believed that they should be able to receive such information. These data examined the range of participants' views regarding the storage and use of biologic samples. Further research with different and diverse patient populations is critical to establishing an appropriate balance between protecting the rights of human subjects in genetic research and allowing research to progress.