Despite the quickening momentum of genomic discovery, the communication, behavioral, and social sciences research needed for translating this discovery into public health applications has lagged behind. The National Human Genome Research Institute held a 2-day workshop in October 2008 convening an interdisciplinary group of scientists to recommend forward-looking priorities for translational research. This research agenda would be designed to redress the top three risk factors (tobacco use, poor diet, and physical inactivity) that contribute to the four major chronic diseases (heart disease, type 2 diabetes, lung disease, and many cancers) and account for half of all deaths worldwide. Three priority research areas were identified: (1) improving the public’s genetic literacy in order to enhance consumer skills; (2) gauging whether genomic information improves risk communication and adoption of healthier behaviors more than current approaches; and (3) exploring whether genomic discovery in concert with emerging technologies can elucidate new behavioral intervention targets. Important crosscutting themes also were identified, including the need to: (1) anticipate directions of genomic discovery; (2) take an agnostic scientific perspective in framing research questions asking whether genomic discovery adds value to other health promotion efforts; and (3) consider multiple levels of influence and systems that contribute to important public health problems. The priorities and themes offer a framework for a variety of stakeholders, including those who develop priorities for research funding, interdisciplinary teams engaged in genomics research, and policymakers grappling with how to use the products born of genomics research to address public health challenges.
Little is known about how beliefs about heredity as a cause of health conditions might influence preventive and interpersonal behaviors among those individuals with low genetic and health literacy. We explored causal beliefs about podoconiosis, a neglected tropical disease (NTD) endemic in Ethiopia. Podoconiosis clusters in families but can be prevented if individuals at genetically high risk wear shoes consistently. Adults (N = 242) from four rural Ethiopian communities participated in qualitative assessments of beliefs about the causes of podoconiosis. Heredity was commonly mentioned, with heredity being perceived as (1) the sole cause of podoconiosis, (2) not a causal factor, or (3) one of multiple causes. These beliefs influenced the perceived controllability of podoconiosis and in turn, whether individuals endorsed preventive and interpersonal stigmatizing behaviors. Culturally informed education programs that increase the perceived controllability of stigmatized hereditary health conditions like podoconiosis have promise for increasing preventive behaviors and reducing interpersonal stigma.
The application of genomics to population health has the potential to revolutionize the practice of medicine. Indeed, discoveries into the genomic basis of cancer and other common chronic diseases have resulted in new and improved predictive tests for identifying individuals at increased risk for these conditions and long before their onset occurs. When used properly, information gained from predictive genomic tests can be combined with other leading indicators (e.g., environmental and behavioral risk factors) to inform medical management decisions, preventive health practices, and risk-reducing strategies. However, genomics remains an emerging science and the translation of genomic discoveries into improved population health management remains elusive. There are divides in the translational science continuum at several junctures, and many of these divides could be narrowed or closed with additional data. For example, we know relatively little about how to effectively communicate with the public about the complex interplay among genomics, behavior, and health. Moreover, there is a need to develop better methods of counseling and educating the public in light of newly emerging knowledge about the genomic basis of health and disease. We assert that the discipline of psychology, and health psychology in particular, is well-poised to continue to make significant contributions to this growing area of science and practice. Through a focus on health-related social and behavioral research, psychology can lead the way in overcoming divides in communication, understanding, and action about genomics for the betterment of both individual and public health practices.
genetics; genomics; communication; health; behavior
Personal genomic testing (PGT) for common disease risk is becoming increasingly frequent, but little is known about people's array of emotional reactions to learning their genomic risk profiles and the psychological harms/benefits of PGT. We conducted a study of post-PGT affect, including positive, neutral, and negative states that may arise after testing.
Two hundred twenty-eight healthy adults received PGT for common disease variants and completed a semi-structured research interview within two weeks of disclosure. Study participants reported how PGT results made them feel in their own words. Using an iterative coding process, responses were organized into three broad affective categories (Negative, Neutral, and Positive affect).
Neutral affect was the most prevalent response (53.9%), followed by Positive affect (26.9%) and Negative affect (19.2%). We found no differences by gender, race or education.
While <20% of participants reported negative affect in response to learning their genomic risk profile for common disease, a majority experience either neutral or positive emotions. These findings contribute to the growing evidence that PGT does not impose significant psychological harms. Moreover, they point to a need to better link theories and assessments in both emotional and cognitive processing to capitalize on PGT information for healthy behavior change.
Genetic testing; Health psychology; Psychological impact
Greater attention towards genetics as a contributor to group health differences may lead to inappropriate use of race/ethnicity and gender as genetic heuristics and exacerbate health disparities. As part of a web-based survey, 1,035 family physicians (FPs) rated the contribution of genetics and environment to racial/ethnic and gender differences in health outcomes, and the importance of race/ethnicity and gender in their clinical decision-making. FPs attributed racial/ethnic and gender differences in health outcomes equally to environment and genetics. These beliefs were not associated with rated importance of race/ethnicity or gender in clinical decision-making. FPs appreciate the complexity of genetic and environmental influences on health differences by race/ethnicity and gender.
Genetics; Race; Ethnicity; Gender; Clinical practice; Health disparities
To evaluate what psychological and behavioral factors predict who is likely to seek SNP-based genetic test for multiple common health conditions where feedback can be used to motivate primary prevention.
Adults aged 25 to 40, who were enrolled in a large managed care organization were surveyed. Those eligible could log on to a secure study Web site to review information about the risks and benefits of a SNP-based genetic test and request free testing. Two primary outcomes are addressed: Accessing the Web (yes, no) and deciding to be tested (completed a blood draw at the clinic)
Those considering genetic susceptibility testing did hold genetically deterministic beliefs (0.42 on scale of 0-behavior to 1-genetic), but believed genetic information to be valuable and were confident they could understand such information. Individuals who believed it important to learn about genetics (OR=1.28), were confident they could understand genetics (OR=1.26), and reported the most health habits to change (OR=1.39) were most likely to get tested.
Physician-patient interactions could benefit if physicians develop “net friendly” strategies to capitalize on patients’ interest in online genetics information and leverage the interaction as a teachable moment to encourage family health history assessment and improved health behaviors.
personalized genomics; risk assessment; internet; psychosocial predictors
To determine how three dimensions of genetic literacy (familiarity, skills, and factual knowledge) fit the hierarchy of knowledge outlined in E.M. Rogers’ Diffusion of Innovations to better conceptualize lay understandings of genomics.
A consumer panel representing the US adult population (N = 1016) completed an electronic survey in November 2013. Adjusting for education, we used correlations, principle components analysis, Mokken Scale tests, and linear regressions to assess how scores on the three genetic literacy sub-dimensions fit an ordered scale.
The three scores significantly loaded onto one factor, even when adjusting for education. Analyses revealed moderate strength in scaling (0.416, p<0.001) and a difficulty ordering that matched Rogers’ hierarchy (knowledge more difficult than skills, followed by familiarity). Skills scores partially mediated the association between familiarity and knowledge with a significant indirect effect (0.241, p<0.001).
We established an ordering in genetic literacy sub-dimensions such that familiarity with terminology precedes skills using information, which in turn precedes factual knowledge. This ordering is important to contextualizing previous findings, guiding measurement in future research, and identifying gaps in the understanding of genomics relevant to the demands of differing applications.
Unprecedented advances in human genome science are underway with potential to benefit public health. For example, it is estimated that within a decade, geneticists and epidemiologists will complete a catalog of the majority of genes associated with common chronic diseases. Such rapid advances create possibilities, if not the mandate, for translational research in how best to apply these and other anticipated discoveries for both individual and population health benefit. Driving these discoveries are rapid advances in infrastructure (e.g., the International HapMap Project to catalog human genetic variation; http://www.hapmap.org), analytical methods, and technology. This expansion in capabilities quickly has taken us from a genetics paradigm—where the influence of individual genes on health outcomes is paramount, to a genomics paradigm—where the complex influence of individual genes is considered in concert with each other and with environmental exposures on health outcomes. We discuss these and similar groundbreaking discoveries with an eye toward understanding their importance to child health and human development, and the role of behavioral science research conducted at the interface of pediatrics and genomic discovery.
Background and Purpose
We examined three theoretical models (self-enhancement theory, consistency theory, and combined model) for understanding how expectations and test result favorability influence smokers' desire for a retest following hypothetical genetic test results.
College smokers (N = 128) read a brochure describing a biomarker for lung cancer (the GSTM1 gene) then reported whether they thought they had the gene (indicating lower lung cancer risk) or were missing the gene (indicating higher lung cancer risk). Participants then reported whether they would get retested if they received favorable GSTM1 results versus unfavorable GSTM1 results.
Participants were most likely to want a retest, suggesting rejection of the results, if they expected favorable news yet received unfavorable news.
The findings supported the combined model such that smokers expressed greatest interest in a retest when they imagined genetic risk feedback that challenges both enhancement and consistency motives.
lung cancer; genes; expectations; consistency theory; self-enhancement theory
Parents may pursue common disease risk information about themselves via multiplex genetic susceptibility testing (MGST) for their children.
To prospectively assess whether parents who received MGST disclosed their test results to their child, intended to change the child’s health habits or have the child tested.
Eighty parents who opted for free MGST completed an online survey about a child in their household before undergoing MGST and a follow-up telephone survey three months after receiving results.
Few parents (21%) disclosed results to the child. Undergoing MGST was unrelated to intentions to change the child’s health habits but did increase parental willingness to test the child. Greater willingness to test a child was associated with positive attitudes toward pediatric genetic testing and intentions to change the child’s health habits.
The experience of receiving MGST had little impact on parents’ perceptions or behaviors related to their minor child.
genetic predisposition to disease; genetic testing/psychology; health knowledge; attitudes; practice; parents; psychology
Studies examining whether genetic risk information about common, complex diseases can motivate individuals to improve health behaviors and advance planning have shown mixed results. Examining the influence of different study recruitment strategies may help reconcile inconsistencies.
Secondary analyses were conducted on data from the REVEAL study, a series of randomized clinical trials examining the impact of genetic susceptibility testing for Alzheimer’s disease (AD). We tested whether self-referred participants (SRPs) were more likely than actively recruited participants (ARPs) to report health behavior and advance planning changes after AD risk and APOE genotype disclosure.
Of 795 participants with known recruitment status, 546 (69%) were self-referred and 249 (31%) had been actively recruited. SRPs were younger, less likely to identify as African American, had higher household incomes, and were more attentive to AD than ARPs (all P < 0.01). They also dropped out of the study before genetic risk disclosure less frequently (26% versus 41%, P < 0.001). Cohorts did not differ in their likelihood of reporting a change to at least one health behavior 6 weeks and 12 months after genetic risk disclosure, nor in intentions to change at least one behavior in the future. However, interaction effects were observed where ε4-positive SRPs were more likely than ε4-negative SRPs to report changes specifically to mental activities (38% vs 19%, p < 0.001) and diets (21% vs 12%, p = 0.016) six weeks post-disclosure, whereas differences between ε4-positive and ε4-negative ARPs were not evident for mental activities (15% vs 21%, p = 0.413) or diets (8% versus 16%, P = 0.190). Similarly, ε4-positive participants were more likely than ε4-negative participants to report intentions to change long-term care insurance among SRPs (20% vs 5%, p < 0.001), but not ARPs (5% versus 9%, P = 0.365).
Individuals who proactively seek AD genetic risk assessment are more likely to undergo testing and use results to inform behavior changes than those who respond to genetic testing offers. These results demonstrate how the behavioral impact of genetic risk information may vary according to the models by which services are provided, and suggest that how participants are recruited into translational genomics research can influence findings.
ClinicalTrials.gov NCT00089882 and NCT00462917
Electronic supplementary material
The online version of this article (doi:10.1186/s13073-014-0124-0) contains supplementary material, which is available to authorized users.
Increases in overweight and obesity (O/O)-related morbidities and health care costs raise questions about how weight influences patients’ health care use and care experiences. Past research has been inconsistent; however, prior study designs and samples have limited exploration of how this association might be influenced by gender, race, and the joint impact of these factors.
This analysis of 1,036 young, relatively healthy, ethnically diverse, insured adults assessed the influence of O/O, gender, and race on, and the role of health care experiences in primary and preventive care use over a 12-month period.
The association of weight status with care use differed by gender. O/O men used more primary care visits; O/O women used fewer preventive care visits than their healthy weight counterparts. O/O men had poorer health care experiences than healthy weight men. African-American women reported poorer experiences, but those who were O/O reported greater trust in their provider. Care experience ratings did not explain the associations between BMI and care use.
Gender, race and visit type together provide a context for O/O patient’s care that may not be explained by care experiences. This context must be considered in efforts to encourage appropriate use of services.
Health care experiences; Health care utilization; overweight; obesity; race
Health behaviors such as tobacco use contribute significantly to poor health. It is widely recognized that efforts to prevent poor health outcomes should begin in early childhood. Biomedical enhancements, such as a nicotine vaccine, are now emerging and have potential to be used for primary prevention of common diseases. In anticipation of such enhancements, it is important that we begin to consider the ethical and policy appropriateness of their use with children. The main ethical concerns raised by enhancing children relate to their impact on children’s well-being and autonomy. These concerns are significant, however they do not appear to apply in the case of the nicotine vaccine; indeed the vaccine could even further these goals for children. Nevertheless, concerns about broadly applying this enhancement may be more challenging. The vaccine may be less cost-effective than alternative public efforts to prevent tobacco use, utilizing it could distract from addressing the foundational causes of smoking and it might not be publically acceptable. Empirical research about these concerns is needed to ascertain their likelihood and impact as well as how they could be minimized. This research could help determine whether behavior-related enhancements hold promise for improving children’s health.
To examine why young people might want to undergo genetic susceptibility testing for lung cancer despite knowing tested gene variants are associated with small increases in disease risk.
We used a mixed-methods approach to evaluate motives for and against genetic testing and the association between these motivations and testing intentions in 128 college students who smoke.
Exploratory factor analysis yielded four reliable factors: Test Skepticism, Test Optimism, Knowledge Enhancement, and Smoking Optimism. Test Optimism and Knowledge Enhancement correlated positively with intentions to test in bivariate and multivariate analyses (ps<.001). Test Skepticism correlated negatively with testing intentions in multivariate analyses (p<.05). Open-ended questions assessing testing motivations generally replicated themes of the quantitative survey.
In addition to learning about health risks, young people may be motivated to seek genetic testing for reasons such as gaining knowledge about new genetic technologies more broadly.
motivations; primary prevention; genetic testing; GSTM1
The role of footwear in protection against a range of Neglected Tropical Diseases (NTDs) is gaining increasing attention. Better understanding of the behaviors that influence use of footwear will lead to improved ability to measure shoe use and will be important for those implementing footwear programs.
Using the PRECEDE-PROCEED model we assessed social, behavioral, environmental, educational and ecological needs influencing whether and when children wear shoes in a rural highland Ethiopian community endemic for podoconiosis. Information was gathered from 242 respondents using focus groups, semi-structured interviews and extended case studies. Shoe-wearing norms were said to be changing, with going barefoot increasingly seen as ‘shameful’. Shoes were thought to confer dignity as well as protection against injury and cold. However, many practical and social barriers prevented the desire to wear shoes from being translated into practice. Limited financial resources meant that people were neither able to purchase more than one pair of shoes to ensure their longevity nor afford shoes of the preferred quality. As a result of this limited access, shoes were typically preserved for special occasions and might not be provided for children until they reached a certain age. While some barriers (for example fit of shoe and fear of labeling through use of a certain type of shoe) may be applicable only to certain diseases, underlying structural level barriers related to poverty (for example price, quality, unsuitability for daily activities and low risk perception) are likely to be relevant to a range of NTDs.
Using well established conceptual models of health behavior adoption, we identified several barriers to shoe wearing that are amenable to intervention and which we anticipate will be of benefit to those considering NTD prevention through shoe distribution.
Consistently wearing shoes may help in preventing onset or progression of a wide range of Neglected Tropical Diseases (NTDs). This study assessed the factors that influenced shoe wearing behaviors among people living in a rural community in highland Ethiopia. In this community, a substantial proportion of people are at risk for podoconiosis, a debilitating lower leg condition that can be prevented by wearing shoes. We conducted semi-structured individual interviews, focus group discussions and extended case studies among 242 adults and systematically analyzed the information. We found that shoe wearing is intermittent, and that different factors such as cost and ability to use the shoes for certain activities (such as farming) influenced consistent shoe wearing for most people. Some factors (such as shoe size, fear of stigma) were more relevant for podoconiosis patients. Social norms were found to be increasingly supportive of shoe wearing, and children exhibited greater desire to wear shoes than adults. These findings have relevance for preventing development and progression of a variety of NTDs in a range of settings.
The identification of genetic variants associated with common disease is accelerating rapidly. “Multiplex tests” that give individuals feedback on large panels of genetic variants have proliferated. Availability of these test results may prompt consumers to use more healthcare services.
To examine whether offers of multiplex genetic testing increases healthcare utilization among healthy patients aged 25–40.
1,599 continuously insured adults aged 25–40 were surveyed and offered a multiplex genetic susceptibility test (MGST) for eight common health conditions.
Main Outcome Measure
Healthcare utilization from automated records was compared in 12 month pre- and post-test periods among persons who completed a baseline survey only (68.7%), those who visited a study Web site but opted not to test (17.8%), and those who chose the MGST (13.6%).
In the pre-test period, persons choosing genetic testing used an average of 1.02 physician visits per quarter compared to 0.93 and 0.82 for the other groups (p<0.05). There were no statistically significant differences by group in the pre-test use of any common medical tests or procedures associated with four common health conditions. When changes in physician and medical test/procedure use in the post-test period were compared among groups, no statistically significant differences were observed for any utilization category.
Persons offered and completing multiplex genetic susceptibility testing used more physician visits prior to testing, but testing was not associated with subsequent changes in use. This study supports that multiplex genetic testing offers can be provided directly to patients in such a way that use of health services are not inappropriately increased.
genetic susceptibility; delivery of health care; genetic testing; genetic counseling
Genetic markers of lung cancer susceptibility, such as the common variant of the glutathione S-transferase Mu 1 gene (GSTM1-null), confer small probabilities of disease risk. We explored the influence of different approaches to communicating the small variations in risk associated with this biomarker. College smokers (N = 128) imagined that they had the GSTM1 wild-type vs. the GSTM1 null-type variant. We presented lung cancer risk in six ways that varied the risk format (absolute risk vs. incremental risk) and the presentation style of the information (no graphics vs. graphic display of foreground only vs. graphic display of foreground + background). Presentation style had minor effects. However, absolute risk information increased negative emotions more than did incremental risk information. Perceptions of risk and negative emotions were most profoundly affected by the difference between having the GSTM1 wild-type vs. the GSTM1 null-type variant. We discuss implications for conveying small probabilities related to genetic risk.
Negative emotions; risk perceptions; GSTM1; lung cancer; genes; risk communication; fuzzy trace theory
Examination of patients’ responses to direct-to-consumer genetic susceptibility tests is needed to inform clinical practice. This study examined patients’ recall and interpretation of, and responses to, genetic susceptibility test results provided directly by mail.
This observational study had 3 prospective assessments (before testing; 10 days after receiving results; 3 months later). Participants were 199 patients aged 25–40 who received free genetic susceptibility testing for 8 common health conditions.
Over 80% correctly recalled their results for the 8 health conditions. Patients were unlikely to interpret genetic results as deterministic of health outcomes (mean=6.0, SD=0.8 on 1–7 scale, 1 indicating strongly deterministic). In multivariate analyses, patients with the least deterministic interpretations were White (p=.0098), more educated (p=.0093), and least confused by results (p=.001). Only 1% talked about their results with a provider.
Findings suggest that most patients will correctly recall their results and will not interpret genetics as the sole cause of diseases. The subset of those confused by results could benefit from consultation with a health care provider, which could emphasize that health habits currently are the best predictors of risk. Providers could leverage patients’ interest in genetic tests to encourage behavior changes to reduce disease risk.
Direct-to-consumer genetic tests; genetic testing; understanding; provider-patient communication; public health genomics
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.
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%).
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.
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.
African Americans; lung cancer disparities; willingness to participate; clinical genetics research; psychosocial factors
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.
Direct-to-consumer genetic tests; Information seeking; Perceived risk; Individual differences
Increased availability of genetic risk information may lead the public to give precedence to genetic causation over behavioral/environmental factors, decreasing behavior change motivation. Few population-based data inform these concerns.
We assess the association of family history, behavioral risks, and causal attributions for diseases and the perceived value of pursuing information emphasizing health habits or genes.
1959 healthy adults completed a survey that assessed behavioral risk factors, family history, causal attributions of eight diseases, and health information preferences.
Participants’ causal beliefs favored health behaviors over genetics. Interest in behavioral information was higher than in genetic information. As behavioral risk factors increased, inclination toward genetic explanations increased; interest in how health habits affect disease risk decreased.
Those at greatest need for behavior change may hold attributions that diminish interest in behavior change information. Enhancing understanding of gene-environment influences could be explored to increase engagement with health information.
genetic testing; attribution; family history; behavioral risk factors
Assessment of smokers’ responses to individualized feedback of genetic susceptibility has shown little or no influence on smoking cessation outcomes. One explanation is that smokers may be having unintended responses that undermine the feedback’s motivational impact (e.g., fatalism or downplaying risk). In preparation for a large randomized trial with college smokers, we conducted a qualitative pilot study to explore smokers’ motives for genetic testing and how these motives might influence interpretation of genetic risk feedback.
Prior to reviewing informational materials describing a test for the glutathione S-transferase M1 gene, 33 college smokers (18 to 21 years) participated in a 30 minute, semi-structured, open-ended interview regarding their attitudes on health risks, genetic testing in general, genetic testing for lung cancer risk, and informational needs regarding genetics and genetic testing for lung cancer risk.
Two central themes emerged from analysis of the interviews: general impressions of genetic testing and perceived value of genetic testing. Prominent in the second theme was the finding that genetic risk feedback may be unsuccessful in motivating quitting a) due to skepticism about genetic tests, b) participants dismissing genetic feedback as personally irrelevant, and c) participants receiving low risk results justifying continued smoking in light of public health messages that “it’s never too late to quit”. These findings require careful consideration among health professionals looking to genetic risk feedback as a vehicle to motivate disease prevention or behavior change.
genetic testing; risk communication; smoking cessation; qualitative methods
The manuscript examines the influence of contextual factors on whether and for whom a colon polyp diagnosis might be a teachable moment, as indicated by engagement with a proactively delivered intervention. Baseline and 8-month follow-up data were analyzed from a two-site behavioral intervention trial with patients in Massachusetts and North Carolina, USA who had recently undergone polypectomy for pre-cancerous colon polyps and were randomized to a behavior change intervention condition (N = 591). Intervention “buy-in” was used as an indicator of response consistent with the polyp identification serving as a teachable moment. Cancer worry, personal risk, health-related self-identity and other sociodemographic factors were tested to predict intervention buy-in. As predicted, those who were most worried about colon cancer were most likely to engage in the intervention. One indicator of personal risk, number of risk behaviors, was significantly and negatively associated with buy-in. Predictors of intervention buy-in and cancer worry were not consistent. We recommend that expanded measures of affect and health-related self-identity should be considered in future research to understand the motivational potential of health events for increasing engagement in effective behavior change interventions.
Worry; Teachable moment; Behavior change; USA; Colon cancer
Providing smokers with personal genetic test results indicating increased lung cancer risk may increase uptake of effective smoking cessation services. Using the internet may increase reach and enable real-time assessment of how people process genetic risk information away from the clinic setting. We therefore explored smokers' responses to Web-delivered GSTM1 genetic test results indicating higher or lower lung cancer risk. Participants were smokers (n = 44) biologically related to patients with newly diagnosed lung cancer. Measures were assessed at baseline, before and immediately after receipt of online genetic test results, and at 6-month follow-up. Outcomes included accurate comprehension of results, regret about being tested, cessation-related cognitions (e.g., perceived response efficacy), and uptake of free smoking cessation services (nicotine replacement therapy, printed self-help materials, telephone counseling sessions). Twenty-two “relative smokers” received a GSTM1-missing (higher risk) and 22 a GSTM1-present (lower risk) result. All relative smokers with GSTM1-missing results and 55% of those with GSTM1-present results accurately interpreted their results. No relative smokers regretted having taken the test. Relative smokers receiving GSTM1-missing results reported lower confidence that quitting could reduce lung cancer risk (perceived response efficacy) than those receiving GSTM1-present results. There were no other significant between-group differences. Uptake of smoking cessation services was high (e.g., 91% nicotine replacement therapy uptake). Genetic test results may not influence uptake of free smoking cessation services because of ceiling effects. Further research is needed to determine the risks and benefits of Web-based disclosure of genetic test results.