Anticipated motivation for genetic testing among smokers, nonsmokers, and former smokers: an exploratory qualitative study of decision making.

Original Paper Public Health Genomics 2014;17:228–239 DOI: 10.1159/000364803

Received: December 2, 2013 Accepted after revision: May 23, 2014 Published online: July 19, 2014

Anticipated Motivation for Genetic Testing among Smokers, Nonsmokers, and Former Smokers: An Exploratory Qualitative Study of Decision Making Alicia M. Giordimaina a Jane P. Sheldon b Elizabeth M. Petty c

a

Department of Health Behavior and Health Education, University of Michigan, Ann Arbor, Mich., Department of Behavioral Sciences, University of Michigan, Dearborn, Mich., and c Department of Pediatrics, University of Wisconsin, Madison, Wis., USA

Key Words Cigarette smoking · Decision making · Psychological and social impact · Public perceptions of genetic testing · Qualitative analysis

Abstract Objectives: This qualitative study explores the public’s interest in genetic testing related to cigarette smoking, comparing the public’s motivations with researchers’ intentions for this technology. Methods: Adult nonsmokers (n = 463), former smokers (n = 163), and current smokers (n = 129) completed an online survey. Within a hypothetical scenario, respondents decided whether they desired genetic testing related to smoking and explained their decision making. A non-parametric Kruskal-Wallis test was used to compare the interest in genetic testing by smoking history group. Inductive content analysis was used to investigate respondents’ explanations for their testing decisions. Results: Most nonsmokers (64%) and former smokers (58%) did not want genetic testing. While most current daily smokers were interested in testing (56%), most current occasional smokers were not (52%). Respondents’ decision-making explanations were categorized into 3 major themes: Causality, Relevancy and Utility (e.g. personal benefits or harms). The use

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of causality, relevancy and utility explanations varied by smoking history. Notable perceived benefits of testing included recreation and altruism. Notable perceived harms included fear of fatalistic thoughts and concern about genetic discrimination. Conclusions: Interest in genetic testing was highest among current daily smokers, despite potential utility in other groups. Although respondents’ motivations for testing paralleled researchers’ intentions of tailoring smoking cessation therapies and increasing motivation to quit or abstain, respondents also raised alternative motivations and fears that healthcare providers would need to address. © 2014 S. Karger AG, Basel

Introduction

Despite decades of public health campaigns, approximately 19% of US adults, or 43.8 million, are still current tobacco cigarette smokers [1]. The morbidity and mortality associated with these figures cost the US over USD 96 billion in medical expenses and an additional USD 97 billion in lost productivity each year [2]. Genetic testing is a potential new addition to a long list of smoking prevention and cessation tools [3]. In 2009, the US Department of Health and Human Services expressed optimism about Alicia M. Giordimaina Department of Health Behavior and Health Education, University of Michigan 3859 SPH I, 1415 Washington Heights Ann Arbor, MI 48109-2029 (USA) E-Mail almagior @ umich.edu

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b

and nonsmokers within hypothetical testing scenarios [15–19]. Qualitative methods have begun to yield deeper insights into the complexity of individuals’ motivations for testing. Using an open-ended question format, Tercyak et al. [18] and Herbert et al. [19] assessed adolescents’ explanations for their level of interest in genetic testing for nicotine dependence susceptibility. Both studies used the same 5 explanatory themes: Interesting (i.e. curiosity about test results), Useful, Irrelevant, Unimportant, and Other. The majority of adolescents’ desire for genetic testing was related to simple curiosity and the potential usefulness of test results in decision making around smoking behaviors, in that order. Park et al. [15] studied the same topic in focus groups comprised of a mixture of adult smokers and nonsmokers. Among the reasons for testing, Park et al. [15] identified: gaining additional information about oneself, encouraging quitting, helping one’s children, and contributing to scientific knowledge. Among the reasons against testing, Park et al. [15] found: broad disinterest in testing, skepticism about a genetic component to addiction, and concern about test results negatively impacting motivation to quit. Park et al. [15], Tercyak et al. [18], and Herbert et al.’s [19] findings provide a good foundation for further qualitative work. However, an important gap in the literature exists. In each of these prior studies [15, 18, 19], results were collapsed across respondents with a variety of smoking histories. No study has adequately differentiated desire for genetic testing by complex smoking histories. While current smokers would be the target group for biochemical interventions to promote nonsmoking, psychological interventions based on genetic testing could be expanded to both former smokers and nonsmokers. It is also important to gauge the reaction of all 3 demographics because of fluidity between groups. All individuals are initially nonsmokers, who may become smokers, who may transiently or permanently become former smokers. Therefore, we believe it is important to recognize the voices of individuals from a broad spectrum of cigarette smoking histories when investigating genetic testing related to smoking. In the current study, we explored motivations for interest or disinterest in genetic testing related to smoking using open-ended survey data from a large sample (n = 755) of adult current daily smokers, current occasional smokers, former daily smokers, former occasional smokers, experienced nonsmokers, and nonsmokers who have never tried a cigarette. Based on Herbert et al. [19] and Tercyak et al.’s [18] work with adolescents, we expected that respondents who were interested in genetic testing would cite their curiosity and the perceived usefulness of

Motivations for Smoking Genetic Testing

Public Health Genomics 2014;17:228–239 DOI: 10.1159/000364803

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the potential advantages of genetic research related to tobacco use: A ‘one size fits all’ public health approach has not been fully successful (in reducing tobacco use). All available tools will be needed to meet the demand for effective and sustainable tobacco control, including pharmacogeneticinformed treatments and social policy interventions for smoking cessation [4, p. xi]. Scientists have pursued 2 main avenues of genetic research relevant to tobacco control: identification of genetic variants predicting susceptibility to smoking-related diseases (e.g. lung cancer) [5, 6], and identification of genetic variants directly related to nicotine dependence [7]. This article will focus on the latter category: genetic information related to nicotine dependence. Research in this area has generally focused on (1) genes related to nicotine metabolic enzymes, and (2) genes related to neurotransmitters involved in the brain’s dopaminergic reward system [8]. For example, recent studies have identified genetic polymorphisms associated with nicotine dependence and the efficacy of smoking cessation treatments, including variants in CYP2A6 (encoding nicotine-metabolizing enzyme cytochrome P450 2A6) [9], the CHRNA5/CHRNA3/CHRNB4 gene cluster (encoding neuronal nicotinic acetylcholine receptor subunits) [10– 12], and several other loci [9, 13]. The anticipated practical application of genetic research related to nicotine dependence is 2-fold: biochemical and psychological intervention to reduce the prevalence of smoking. The purpose of biochemical intervention is to understand the role of genetic variation in smokers’ responses to cessation therapies, such as nicotine replacement and treatment with bupropion [14]. The goal of psychological intervention is to incorporate genetic information into therapies that motivate individuals to avoid smoking initiation, maintain abstinence or quit smoking. Although our knowledge of the genetics of nicotine dependence continues to progress, there is little information about the public’s interest in genetic testing related to smoking or whether the intended use of this technology aligns with public expectations. The utility scientists and healthcare providers envision for genetic technology may ultimately be superseded by the goals of the patient. Health professionals should be made aware of the public’s desire for and intended use of genetic testing related to smoking in order to anticipate concerns and take advantage of unexpected benefits. The few existing studies of public perception have found moderate to high levels of interest in genetic testing predicting nicotine dependence among both smokers

Methods Respondents and Procedure Respondents belonged to a subgroup within a larger webbased, qualitative/quantitative mixed-methods study. All respondents were recruited from University of Michigan employees over the age of 18. An Institutional Review Board at the University of Michigan approved the study. 10,000 randomly selected members of faculty and staff were emailed a recruitment notice with up to 2 reminder emails, resulting in 821 respondents. The email invitation followed the recommendations of Kaplowitz et al. [20] in that it (a) was the appropriate length for completeness and persuasiveness, (b) placed the survey web address near the bottom of the email, (c) provided accurate estimates of the time and effort required to complete the survey, and (d) included reminder emails. As a token of appreciation, respondents were entered into one of 6 research raffles to win a USD 100 gift certificate. The low response rate is likely due to 3 factors: the overall length of the survey, the ability of employees to direct mass-mailings to junk/spam folders, and our financial inability to offer compensation to each individual. Respondents anonymously answered 75–120 tailored questions (average duration of 25 min) online through Qualtrics (Qualtrics, Provo, Utah, USA). The survey was pretested in a convenience sample and revised for clarity and ease of administration. The final questionnaire included both quantitative and qualitative items; however, this paper focuses only on qualitative measures. The quantitative questions explored beliefs about determinism, causal attributes, risk perceptions, and fatalism related to smoking behaviors. Two qualitative items appearing at the end of the questionnaire are analyzed in this paper: (1) a single closed-ended question about desire for a hypothetical genetic test related to cigarette smoking and (2) a follow-up open-ended question asking respondents to explain their genetic testing decisions. Of the 821 respondents in the overall sample, 755 (92%) responded to the decisionmaking and explanation questions. Measures Self-reported demographics included age, gender, race/ethnicity, and education level. Smoking history was assessed through 4

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questions about lifetime experience with tobacco cigarette smoking. Respondents were classified as smokers (current or former) if they had smoked at least 100 cigarettes in their lifetime [21]. Respondents were further subdivided as follows: current daily smoker (currently smokes one or more tobacco cigarettes per day), current occasional smoker (currently smokes but fewer than one cigarette per day), former daily smoker (previously smoked one or more tobacco cigarettes per day but has abstained for more than 12 months), former occasional smoker (previously smoked fewer than one cigarette per day but has abstained for more than 12 months), experienced nonsmoker (tried at least one puff), or inexperienced nonsmoker (never tried a cigarette). Respondents were asked to imagine a hypothetical scenario: ‘Genes come in different versions. Researchers discover that a particular version of one gene is found more commonly in regular smokers than in others.’ The scenario was intentionally ambiguous as to the use of the genetic information so that all utility suggested by the respondents arose organically. Regular smoker was defined on-screen as ‘someone who smokes one or more tobacco cigarettes per day.’ Respondents were then asked, ‘Would you be interested in having a genetic test to find out if you had a version of the gene found more commonly among regular smokers?’ and were asked to choose from ‘yes’, ‘no’ and ‘maybe’ answer options. Respondents were prompted to explain their hypothetical genetic testing decisions: ‘Please explain why you would/would not want this testing for yourself.’ Respondents were instructed that testing would be easy to get, inexpensive, covered by health insurance, fast, accurate, and painless. These stipulations were included so that the focus of responses would not be common barriers to medical care, but rather to encourage respondents to examine their underlying reasons for their decisions. Coding and Emergent Themes Explanations for genetic testing decisions were coded by 2 of the researchers using inductive content analysis [22]. Each coder independently assessed a subsample of responses and developed catalogs of lower-order codes. Catalogs were compared and consolidated to assemble a unified codebook. The coders then used training sessions to familiarize themselves with qualitative software (NVivo, 2011, Version 9, QSR International Pty Ltd), confirm saturation of codes, and refine the codebook. The final codebook contained 45 codes. Each coder independently coded all responses. Inter-coder reliability was assessed by calculating the number of codes in agreement divided by all agreements plus disagreements. Initial coding reached an acceptable level of agreement (70%). Wherever discrepancies in coding occurred, the coders conferred with each other to reach a consensus. The 45 lower-order codes were then reduced into higher-order themes and subthemes, as described in Results. Statistical Analysis SPSS (version 21, IBM) was used for all statistical analyses. Respondents’ desire for genetic testing was compared across the 6 smoking history groups using a non-parametric Kruskal-Wallis test. Descriptive statistics were generated to explore the relationship between smoking history, genetic testing decisions, and themes within respondents’ explanations for their testing decisions.

Giordimaina /Sheldon /Petty


test as explanations. Based on Park et al.’s [15] study of adults, we expected that our adult sample would also justify their decisions using explanations such as: helping family, contributing to science, enhanced self-understanding, skepticism about the genetic component of nicotine dependence, and fear of decreased motivation to quit smoking. Using inductive content analysis, we allowed respondents’ responses to dictate coding categories in our attempt to gain a rich, in-depth understanding of individuals’ motivations for genetic testing decisions. Because of the exploratory nature of our investigation, we had no other predictions, but expected that explanations for interest or disinterest in genetic testing would vary according to smoking history.

n (%) Smoking history Current daily smoker Current occasional smoker Former daily smoker Former occasional smoker Experienced nonsmoker Inexperienced nonsmoker Gender Male Female Education High school or college Bachelor’s degree or higher Race/ethnicity African American Native American White, non-Hispanic Hispanic/Latino Asian/Pacific Islander Multiethnic/multiracial Age, years Range Mean (SD)

64 (8) 65 (9) 126 (17) 37 (5) 294 (39) 169 (22) 213 (28) 542 (72) 183 (24) 572 (76) 27 (4) 2 (0) 650 (86) 22 (3) 32 (4) 18 (2) 20 – 77 40 (12)

Percentages may not add up to 100 due to rounding and missing data.

Results

Sociodemographic characteristics of the 755 respondents are presented in table 1. The majority of respondents were middle-aged, female, non-Hispanic White, and had completed a Bachelor’s degree or higher. Current smokers comprised 17% of the sample, which was comparable to the percentage of smokers in the University employee population (14%) [23]. Interest in Genetic Testing by Smoking History In accordance with our hypothesis, level of interest in genetic testing varied by smoking history (fig. 1; KruskalWallis χ2 (5) = 38.87, p < 0.001). Current smokers (45%), especially daily smokers (56%), were the most likely to desire testing. However, more than a quarter of former smokers (28%), and even nonsmokers (25%), also expressed interest in the test. It is reasonable to expect that respondents with different smoking histories would also have different justifications for their decisions regarding genetic testing. Given Motivations for Smoking Genetic Testing

the subjective nature of qualitative coding, statistical hypothesis testing was not appropriate. However, descriptive statistics are presented throughout for each explanatory theme and subtheme so that overall trends might be appreciated. Major Explanatory Themes and Subthemes Three major themes emerged from respondents’ explanations for their testing decisions (defined in table 2). Respondents evaluated the test’s central assumption about the relationship between genes and smoking behavior (Causality), the test’s applicability to their individual circumstances (Relevancy), and what use or misuse the test results might have (Utility). Nine subthemes within Causality, Relevancy, and Utility are explained with examples below. Respondents’ self-typed responses are quoted verbatim throughout this article, without grammatical or other corrections. Causality One-third of respondents’ explanations for their testing decisions reflected on the causal relationship between genes and smoking behaviors. More than a quarter of respondents (27%) were unable to suspend their disbelief of the genetic component of smoking behaviors (Minimizing). Very few respondents (3%) explicitly endorsed a genetic component to smoking behaviors (Endorsing), likely because this was assumed to be a parameter of the hypothetical scenario. A very small percentage (1%) endorsed genetic beliefs above and beyond the information provided in the prompt (Expanding). Minimizing ‘At the end of the day I am addicted to cigarettes and the presence of a gene really has no relevance for my continued smoking or my smoking cessation. I understand the consequences and choose to continue smoking because I’m addicted to the substance, not because there’s a genetic craving. Even if there were a genetic component, so much of the addiction is behavioral that it would engulf the impact of the genes. (Current daily smoker, 35-year-old woman, Master’s degree, would not want genetic testing.)’ Endorsing ‘I am not a smoker, but i believe the gene controlling smoke or not exists. (Experienced nonsmoker, 25-year-old woman, doctorate, would want genetic testing.)’ Expanding ‘I believe there is an addictive gene, that causes all types of addictions. Smoking, drinking, gambling, overeating, ocd, etc. I would get tested if it was going to lead to something being done about it, to prevent this addictive personality. (Current daily smoker, 53-year-old woman, some college education, would want genetic testing.)’


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Table 1. Demographic characteristics of respondents (n = 755)

Table 2. Thematic explanations for testing decisions

Theme/Subtheme

Definition

Causality Minimizing Endorsing Expanding

beliefs about the causes of smoking behaviors, with a focus on genetic causal beliefs belief that genes play a minimal or no role in the development of smoking behaviors belief that genes do play a role in the development of smoking behaviors belief that genes play a role in the development of smoking behaviors as part of a larger ‘addict phenotype’

Relevancy Personal history Family history

beliefs about the relevancy or irrelevancy of the genetic test, given one’s specific circumstances belief that the respondent’s own history of smoking, or lack thereof, makes the test relevant or irrelevant belief that the respondent’s family history of smoking, or lack thereof, makes the test relevant or irrelevant

Utility Recreation Personal benefit Personal harm Altruism

beliefs about the positive or negative utility of the genetic test results a general curiosity about the genetic test or results without a specific application for this information belief that the genetic test result could benefit the respondent, specifically, in a material or nonmaterial way belief that the genetic test result could harm the respondent, specifically, in a material or nonmaterial way belief that the respondent’s genetic test result would benefit others, regardless of the benefit or harm to the respondent

Fig. 1. Genetic testing decisions by smok-

Relevancy More than half of the respondents (66%) discussed the relevancy of the genetic test from the personal or family perspective. We use the term personal history broadly to refer to the respondent’s history of smoking and nonsmoking behaviors (past and present), level of addiction, life stage, quit attempts, and perceived risk for future smoking behaviors. We use the term family history inclusively to mean any reference to the smoking or nonsmok232


ing history of a respondent’s family members. Respondents considered their personal history (59% of all cases) of cigarette smoking more frequently than their family history (6% of all cases). They used their personal histories to argue for the irrelevancy of genetic testing more often than relevancy (88 vs. 12% of such cases). Respondents used their family histories to argue for the relevancy of genetic testing more often than irrelevancy (75 vs. 25% of such cases). Giordimaina /Sheldon /Petty


ing history. Bars are labeled with n (%) and represent the percentage of cases within each smoking history subgroup. Interest in genetic testing was associated with smoking history, Kruskal-Wallis χ2 (5) = 38.87, p < 0.001.

‘If I was going to be a regular smoker, I would already be one by now, so testing at this time would not be of benefit at my current age. (Former occasional smoker, 39-year-old woman, Bachelor’s degree, would not want genetic testing.)’ ‘As someone who is in the process of quitting smoking, having knowledge about the genetics involved might help me change my thinking around quitting. I would make a more conscious effort to quit and stay quit knowing that the genetics might play a role in counteracting my efforts to quit. […] (Current occasional smoker, 31-year-old man, Bachelor’s degree, would want genetic testing.)’ Family History ‘I am a non-smoker and my immediate household and family (mom, sister, husband, and kids) are non-smokers. So it would not matter whether the gene is present and I not sure I would want to know that my family is predispositioned to this gene they may use it as an excuse... (Experienced nonsmoker, 35-year-old woman, Associate’s degree, would not want genetic testing.)’ ‘I would want to know if I was more predisposed to cigarette addiction. Based on my families history of addiction (mild-alcohol and tobacco) I do think I have a harder time quitting than others. If I knew this, I would be more careful about my habits and would also be able to warn my children (when I have them). (Current daily smoker, 26-year-old woman, Bachelor’s degree, would want genetic testing.)’ ‘I would be interested if I had the gene, because growing up, living with a smoker made me mad. (Always having to smell like smoke and being around it). Sometimes I would like to know if my stubborn personality swayed me more away from smoking or was it that I did not have the same gene as my sister and mother. (Experienced nonsmoker, 33-year-old woman, Master’s degree, would want genetic testing.)’

Utility Thirty-four percent of respondents discussed the use or effect of the test results in order to justify their testing decisions. Utility was the most diverse and rich of the 3 major explanatory themes, with 4 subthemes: recreation, personal benefit, personal harm, and altruism. Recreation Twelve percent of respondents cited recreation as a reason for their genetic testing decision. Whether purely ‘for fun’ or to satisfy curiosity, such information gathering was not necessarily tied to intended behavioral change. ‘For fun. (Inexperienced nonsmoker, 24-year-old man, Bachelor’s degree, would want genetic testing.)’ ‘Simple genetic curiosity. I’ve never had my genes tested and it’d be interesting to know what they were dictating. (Current occasional smoker, 30-year-old woman, Master’s degree, would want genetic testing.)’


Personal Benefit Twenty-eight percent of respondents believed the genetic test results would benefit them personally. The benefits themselves were extremely varied, from individually tailored cessation planning, to psychological motivation to avoid or quit smoking, to enhanced self-understanding, and, in 2 cases, permission to experiment with social smoking (which was framed by the respondents as a positive outcome). ‘[…] by having this knowledge [from the genetic test] will give me an advantage in my efforts to come up with a solid plan and a stronger support system to assist me in quiting smoking. (Current daily smoker, 41-year-old man, some college education, would want genetic testing.)’ ‘Either way I think [my test results] would motivate me to quit. If I have the gene, I will want to beat it. If I don’t have the gene, I would not have an excuse. (Current daily smoker, 23-year-old man, Master’s degree, would want genetic testing.)’ ‘I would, because I have always felt there was something in me that won’t let me stop smoking. I don’t think knowing would make it easier to quit but helps me understand more. (Current daily smoker, 58-year-old woman, Associate’s degree, would want genetic testing.)’ ‘I might be somewhat more open to trying cigarettes or other types of tobacco in some social situations if I knew I were at a low risk for developing a dependency. I would need more information to know if this test could provide an acceptable level of evidence. (Inexperienced nonsmoker, 27-year-old man, Bachelor’s degree, would want genetic testing.)’ Personal Harm Few respondents (7%) were concerned about personal harm caused by their genetic test results. Notably, respondents were sensitive to both the possibility of developing a false sense of immunity from addiction or an unwarranted pessimism about quitting. In addition, respondents considered harms caused by external groups, such as discrimination by employers and insurance companies, or exploitation by the pharmaceutical industry. ‘I wouldn’t want [my test results] interfering with my decisionmaking, encouraging me to think that it is unusually easy or unusually difficult to quit smoking. Both beliefs would make it more difficult for me to quit smoking if I wanted to. (Current daily smoker, 29-year-old man, Bachelor’s degree, would not want genetic testing).’ ‘It would influence my future decision-making negatively. If I didn’t have the gene, I would be tempted to try smoking and assume I was unlikely to get addicted. I’d rather just assume I would be likely to get addicted. Not knowing whether I have the gene would create more uncertainty over my capacity to become addicted which would lead me to more conservative behavior. (Inexperienced nonsmoker, 26-year-old man, Master’s degree, would not want genetic testing.)’ ‘This country’s health system is bullied by insurance and pharmaceutical companies in whose interest lies treating symptoms and not causes, or in preventative medicine. The information I fear would be yet another tool that would allow the insurance companies to continue making obscene profits with out paying for treatment. Or even refusing to insure those who are found to have the gene. (Former daily smoker, 41-year-old man, some college education, would not want testing.)’


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Personal History ‘I don’t smoke much (maybe 1–2 a week) so it really doesn’t matter to me. (Current occasional smoker, 37-year-old woman, Bachelor’s degree, may or may not want genetic testing.)’

Altruism Not all testing decisions were oriented solely around the impact of the test on the respondent. Nine percent of respondents discussed genetic testing for the purpose of helping others, regardless of the benefit or harm to themselves (altruism). Altruistic genetic testing was centered on the respondents’ relatives (especially their children), unrelated people (especially smokers), or for the advancement of science in general. ‘More for my children to know if they might be more at risk of having the gene – especially because of the cancer causing aspect of smoking. (Former daily smoker, 56-year-old woman, some college education, would want testing.)’ ‘I don’t smoke and therefore would not benefit from this knowledge. However, if my data in conjunction with other nonsmokers could assist researchers in finding appropriate drugs that could help smokers quit effectively, I would gladly assist. […] Curing and treating all forms of addiction is desirable from both a societal and moral perspective but cannot be done without the cooperation and consent of the addicted. […] (Inexperienced nonsmoker, 50-year-old woman, Master’s degree, would want testing.)’

Connections between Explanatory Themes and Level of Interest in Genetic Testing by Smoking History Causality by Smoking History and Testing Decision References to causal beliefs were concentrated among nonsmokers (43% of all nonsmokers compared to 21% of former smokers, and 22% of current smokers). Given that most respondents who referenced causal beliefs (88%) did not believe genetics played a major role in determining smoking behaviors, it is unsurprising that this explanatory theme was used most frequently by those who would decline testing (77% of all references to causal beliefs among nonsmokers, 69% among former smokers, and 72% among current smokers; fig. 2A). Relevancy by Smoking History and Testing Decision Similar to causal beliefs, references to the relevancy of the genetic test were concentrated among nonsmokers (72%), with lesser prominence among former smokers (65%) and current smokers (42%). This theme also occurred most frequently among respondents who would choose not to have genetic testing (77% of all references to relevancy among nonsmokers, 72% among former smokers, and 61% among current smokers; fig. 2B). Surprisingly, although current smokers were more likely to describe the test as personally relevant (25% of 234


current smokers) compared to former smokers (9%) or nonsmokers (8%), most current smokers who used personal relevancy to explain their testing decisions found the test irrelevant (75%), citing a lack of readiness to quit, the overwhelming strength of their addiction, or the belief that their smoking was too infrequent to warrant concern, for example. In contrast, the use of family history as an explanation for the relevancy/irrelevancy of the genetic test was similar amongst current smokers, former smokers, and nonsmokers (5, 4, and 7%, respectively), and the majority of references to family history (73%) were used to justify the relevancy of a genetic test. Utility by Smoking History and Testing Decision The use of the utility explanatory subthemes varied dramatically by testing decision and smoking history (fig. 2C). Unsurprisingly, respondents who would choose testing focused on the positive impact of the test results while respondents who would decline testing saw little use in the results or stressed the potential for negative consequences. Respondents who could not decide whether they would want the test (not pictured) used a mixture of positive and negative utility subthemes. Among current smokers who would choose testing, the dominant utility subthemes were personal benefit (40%) and recreation (31%). Former smokers who would choose testing were also motivated by personal benefit (28%) and recreation (22%) but were primarily driven by altruism (37%). The recreational value of the test was central to the decision making of nonsmokers who would choose testing (38%), yet more than a quarter (26%) of experienced nonsmokers who would choose testing still believed that the results could be personally beneficial despite their nonsmoker status. Among those who would decline testing, current smokers (31%), and especially daily smokers (42%), were concerned about the possibly harmful effects of the test results. A small portion of former daily smokers who would decline testing were similarly concerned about personal harm (13%), but most former smokers (86%) and nonsmokers (92%) who would not get tested did not explore the utility of the test results. Instead, these respondents focused on the irrelevancy of the test to their situation (81% of former smokers, 87% of nonsmokers who would not test) and their lack of belief in the causal connection between genetics and smoking behaviors (15% of former smokers, 49% of nonsmokers who would not test).



‘I would not trust the organization doing the test. What else would they test for? What would they do with the results, not just mine personally (although that too) but the complete results? (Current daily smoker, 46-year-old woman, some college education, would not want testing.)’

themes are not mutually exclusive. Therefore, percentages may not add up to 100. Data from respondents without a definitive testing decision (‘maybe would test, maybe not’) are not pictured.



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Fig. 2. Distribution. Causality (A), Relevancy (B) and Utility (C) subthemes by smoking history and genetic testing decision. Bars are labeled with n (%) and represent the percentage of cases within each combination of smoking history and testing decision. Sub-

unrealized due to a lack of interest among groups other than current smokers.

As a new technology matures and is adapted by a diverse population, its function continues to evolve from its initial purpose. In anticipation of a future in which genetic information is integrated more broadly into healthcare, and recognizing that such technology is already becoming more widely accessible through direct-toconsumer testing (an avenue providing limited patient education), it is imminently necessary to understand how the public envisions using personal genetic knowledge. Nicotine dependence is one among many complex health conditions to which genetic technologies are now being applied. We explored the public’s perceptions of genetic testing related to cigarette smoking in order to highlight issues that could aid or undermine communication between scientists, healthcare providers, and the public if such testing becomes more widely distributed. Our study had 3 main findings: (1) interest in genetic testing varied by smoking history; (2) beliefs about the causality, relevancy, and utility of genetic information were major components of the decision-making process, and (3) even current smokers, former smokers, and nonsmokers who arrived at the same testing decision used causality, relevancy, and utility differently to explain their decision. In what follows, we place our results in the context of previous research and highlight particular outcomes that may be of concern in future patient-provider interactions. Interest in Genetic Testing All previous studies of US adults and adolescents found that the majority of respondents (57–91%) were interested in genetic testing related to smoking [15, 16, 18, 19]. However, the statistics reported in all but one [16] of these studies were aggregated across respondents with diverse or unknown smoking histories. While Halbert et al.’s [16] analysis is not heterogeneous with regard to smoking history, their investigation was limited to current smokers. Because our analyses were separated by smoking history, we were able to identify distinct patterns of interest in genetic testing. Our finding that 56% of adult current daily smokers were interested in genetic testing is consistent with that of Halbert et al. (58%) [16]. However, only a minority of current occasional smokers (34%), former smokers (28%) and nonsmokers (25%) in our study would accept testing. Thus, if genetic testing related to smoking were found to have wide-ranging benefits across smoking histories (improving smoking prevention, cessation and abstinence), these benefits may go 236


Decision-Making Factors and Smoking History Four other studies of genetic testing related to smoking have examined respondents’ decision making by using qualitative methods [15, 16, 18, 19]. Despite differences in respondent demographics, decision-making factors identified in these past studies were conceptually similar to our own and could potentially be summarized by the 3 major themes identified in our study: Causality, Relevancy, and Utility. While consistency with previous research strengthens the reliability of our findings, the present study also allowed for a new dimension of analysis by comparing decision-making factors across individuals with different smoking history backgrounds. We found that most nonsmokers and former smokers who were uninterested in genetic testing would choose to decline because they did not believe the results were applicable to their situation. Among current smokers, the frequency of cigarette smoking was associated with different reasons for declining testing. While both daily smokers and occasional smokers who would decline testing challenged the relevancy of the test to their personal circumstances, daily smokers also feared that their test results could be harmful to them psychologically or through the discriminatory actions of others. Our findings also demonstrated that respondents’ anticipated use for genetic information was not always consistent with researchers’ intentions. Many respondents would choose to have genetic testing for recreational or altruistic purposes, instead of or in addition to using genetic information as an aid to smoking cessation, abstinence or prevention. Across all smoking histories, but particularly among former smokers and nonsmokers, respondents were simply curious about their genetics. All smoking history groups, but especially former smokers, reported interest in genetic testing for altruistic reasons, such as warning family members of their genetic risk, helping to identify new treatments for current smokers, or advancing science in general. Thus, our results indicate that if genetic testing were to be integrated into existing efforts to reduce tobacco use, healthcare providers would need to anticipate different decision-making patterns, values, and fears based on an individual’s personal history of smoking. Points of Interest in Patient-Provider Communication Researchers have raised many concerns about the psychological effects of genetic testing related to smoking [24]. Three of these concerns were brought up by responGiordimaina /Sheldon /Petty


Discussion

dents in this study: (1) the fear of fatalistic thinking about smoking initiation or cessation, (2) the idea that a negative test could provide permission to experiment with smoking, and (3) the fear of genetic discrimination. One additional concern, not – to our knowledge – suggested by previous research, arose from analysis of our sample: (4) the overextension of genetic test results to all ‘addictions’ through the concept of a generalized ‘addictive personality’ gene. Each of these concerns has implications for patient-provider communication. Most respondents viewed fatalistic thinking or a sense of invulnerability to nicotine dependence as potential harms of genetic testing that should be avoided. Out of 755 respondents, only 2 believed that ‘permission’ to experiment with smoking was a beneficial outcome of a negative test result. Importantly, while this reasoning was very rare, the qualitative nature of this study means that we cannot estimate the true prevalence of these ideas. Nevertheless, both the sense of invulnerability to nicotine dependence and the fear of fatalistic thinking are founded on a misunderstanding of the predictive power of genetic testing. This indicates that patients may benefit from a conversation with their healthcare provider, distinguishing between the complexity of multifactorial disorders and the relative simplicity of Mendelian genetics, with which patients are more likely to be familiar. A small number of respondents in this study (3%) would avoid genetic testing related to smoking due to concerns about genetic discrimination. Although verified cases of genetic discrimination by insurers and employers are thankfully rare [25], the difficulty of detection and potential for great harm culminated in the US Genetic Information Non-discrimination Act (GINA) of 2008 [26]. GINA prohibits discrimination in health coverage and employment on the basis of genetic information; however, it contains a number of notable exceptions, including lack of protection against genetic discrimination in life insurance, disability insurance or long-term care insurance. While GINA promises some protection against genetic discrimination, the apprehension expressed by our respondents should be understood in the context of a history of differential treatment of smokers by US insurers and employers. The rhetoric surrounding the differential treatment of cigarette smokers carries a very distinct message from that surrounding differential treatment of, for example, breast cancer survivors. While the latter is ‘discrimination,’ the differential treatment of smokers has been framed as a beneficial form of negative social control [27]. Health insurance and life insurance premiums rou-

tinely adjust for smoking status. Twenty-one states allow employers to have differential hiring practices for smokers [28]. Within a larger trend of growing stigma toward smokers and shifting societal norms [27], differential treatment of smokers is now the rule; therefore, the fear of discrimination arising from genetic testing related to smoking may not be totally unfounded. Genetic status may be seen as a permanent target for insurers and employers to take advantage of, regardless of actual smoking behavior. If genetic testing related to smoking were to become widely adopted, it would be prudent for healthcare providers to initiate a discussion of the protection provided by GINA as well as the law’s limitations. Finally, a few respondents (1%) would seek genetic testing related to smoking due to their belief in an underlying ‘addictive personality’ gene. These respondents hoped that the test would inform them of their risk for other chemical dependencies (particularly those observed in other family members), gambling, nail biting, obesity, or obsessive-compulsive disorder. Even those who do not smoke may find some utility in a genetic test related to smoking behaviors if they believe that the same genetic factors underlie other ‘addictions’ of interest. It is thus important for healthcare providers to clarify the scope of a genetic test related to smoking behaviors – not only what such tests could predict, but also their limitations.



Conclusions

Limitations and Future Research A low response rate is a limitation of this study. The time estimate of 20–25 min for survey completion may have dissuaded individuals from participating. Several researchers have found that longer web-based surveys have decreased response rates [29, 30]. However, other research suggests that faculty and staff are equally likely to complete online surveys when the estimated time com237


This study underlines the importance of smoking history in the decision-making process around genetic testing related to smoking. Our analysis suggests that while causality, relevancy, and utility beliefs are components of the decision-making process, these components function differently depending on the smoking history of the patient. In addition to probing the decision-making process, this study also highlighted the need for patient-provided communication regarding patients’ fears about their genetic test results and to clarify misconceptions about the scope of genetic testing.

mitment was ‘about 10 minutes’ versus ‘less than 30 minutes’ [20]. Therefore, it is not clear how much the low response rate in this study was affected by the estimated time commitment. However, it is possible that components of our web-based survey and the email invitation affected individuals’ decision to participate [31]. Despite the overall low response rate, our sample had the advantage of being larger than typical of exploratory qualitative research. Although current smokers (who are likely to be the prime audience of genetic testing) comprised the smallest proportion of respondents (17%), our sample of 129 current smokers was still comparable or larger than that of similar qualitative studies [15, 16, 18, 19]. The qualitative nature of this study had the benefit of allowing respondents to express their decision making in their own words, without the restrictions imposed by quantitative methodologies. However, a limitation of this design is that results may not be generalizable. Respondents were affiliated with a research-oriented university. Most respondents were highly educated and may have

differed from non-university samples. Additionally, while our study examined decision making within a hypothetical scenario, previous research has demonstrated that interest in genetic testing related to smoking may be only moderately related to actual uptake [5, 32]. We must be cautious in generalizing the motivations of those who express an interest in genetic testing to the motivations of those who would actually follow through with testing. Thus, the results of this study may provide guidance for future qualitative and quantitative research in under actual genetic testing conditions. Future qualitative work might investigate testing motivations among direct-toconsumer genetic testing clients. Future quantitative studies could examine the link between the genetic testing motivations identified in this paper and pre-existing models of decision making. This may include measures of perceived threat, coping styles, the recall of genetic counseling information, and, among current smokers, the intention to quit and the degree of nicotine dependence.

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