Applied Nursing Research xxx (2014) xxx–xxx
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Adults' perceptions of genetic counseling and genetic testing Julia Fisco Houfek, PhD, APRN-CNS a,⁎, Brigette S. Soltis-Vaughan, MSN, APRN-NP b, 1, Jan R. Atwood, PhD, FAAN c, 2, Gwendolyn M. Reiser, MS, CGC b, 3, G. Bradley Schaefer, MD, FACMG d, 4 a
University of Nebraska Medical Center, College of Nursing, 985330 Nebraska Medical Center, Omaha, NE 68198-5330, USA University of Nebraska Medical Center, College of Medicine, 985520 Nebraska Medical Center, Omaha, NE 68198-5520, USA University of Nebraska Medical Center, College of Public Health, 984355 Nebraska Medical Center, Omaha, NE 68198-4355, USA d Division of Medical Genetics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital Slot 512-22, Little Rock, AR 72211, USA b c
a r t i c l e
i n f o
Article history: Received 24 July 2013 Revised 20 February 2014 Accepted 5 March 2014 Available online xxxx Keywords: Genetics Genetic knowledge Genetic testing Patient education
a b s t r a c t Purpose: This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Methods: Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Results: Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Conclusions: Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. © 2014 Elsevier Inc. All rights reserved.
1. Introduction Scientific knowledge about the contributions of genomic variation to both rare and common diseases is growing at a rapid pace. This knowledge plus the technological advances in DNA sequencing will result in increased clinical applications (Green & Guyer, 2011). People will have unprecedented opportunities to learn about their genetic susceptibility to common diseases and how gene-environment interactions can affect their health (Feero et al., 2010). Nurses have a key role in helping patients understand and use health-related genetic and genomic information (Greco & Salveson, 2009). An identified gap in genomic nursing science, which will help nurses fulfill this role, is knowledge about individuals' expectations of providers and their self-management
⁎ Corresponding author at: University of Nebraska Medical Center, College of Nursing, 985330 Nebraska Medical Center, Omaha, NE 68198-5330, USA. Tel.: +1 402 559 6542; fax: +1 402 559 8188. E-mail addresses: [email protected] (J.F. Houfek), [email protected] (B.S. Soltis-Vaughan), [email protected] (J.R. Atwood), [email protected] (G.M. Reiser), [email protected] (G.B. Schaefer). 1 Tel.: +1 402 552 6239; fax: +1 402 552 6247. 2 Tel.: +1 520 360 2369. 3 Tel.: +1 402 559 4161; fax: +1 402 559 5737. 4 Tel.: +1 501 346 2971; fax: +1 501 346 1564.
strategies when encountering genomic-based health care for common, complex disorders (Calzone et al., 2013). Research about adults' perceptions of genetic counseling and their expectations for genetic testing will help address this gap. A relevant group for study is adults who express an interest in genetics because they will likely be early adopters of genetic testing, whether ordered by their health-care provider or through direct-to-consumer marketing. An educational program for the public about genetics and health provided an opportunity to survey attendees about their perceptions of genetic counseling and testing.
2. Perceptions of genetic counseling and testing Research suggests that individuals' perceptions of genetic disease susceptibility influence their use of risk reduction behaviors (Vos et al., 2012). Considering patients' perceptions of genetic conditions and services during genetic counseling also facilitated their understanding of the information provided and satisfaction with the counseling experience (Skirton & Eiser, 2003). Research addressing perceptions of genetic information and services has focused on three groups: (a) adults in the general population; (b) patients with chronic illnesses, and (c) adults at high-risk for hereditary cancers. No published studies were found that addressed the perceptions about genetic counseling and testing among
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adults who express an interest in genetics, but had not participated in genetic counseling or testing. Studies about perceptions of genetics among adults in the general population found that although they lacked scientific genetic knowledge, they recognized the potential benefits and limitations of genetic testing (Catz et al., 2005; Frazier et al., 2006; Rew et al., 2010; Rose et al., 2005; Skirton et al., 2006). Benefits of testing included increasing control over one's life (Rose et al.), preventing disease (Catz et al.), and providing information for future generations (Frazier et al., Skirton et al.). Limitations of testing included emotional distress about results, discrimination, test credibility, treatment expense, and confidentiality breaches. Older adults wanted professional support when sharing results and indicated they would disclose results selectively to family members based on ability to take preventive action (Skirton et al.). They were concerned that communicating results to family members might cause psychological distress or actual physical illness (Frazier et al., Skirton et al.). These studies did not address adults' perceptions of specific genetic topics or issues that may be discussed during counseling. Dutch patients with common, chronic diseases had positive attitudes about genetic testing (Morren et al., 2007). Females reported significantly more perceived genetic knowledge. However, they were less interested in testing if treatment was not available. Females were also more likely to indicate they would inform siblings of test results. Specific reasons for disclosing or withholding results with family were not explored. A follow-up survey found that a less favorable attitude towards genetic testing was related to less perceived medical knowledge and greater perceived psychosocial knowledge about genetics (Calsbeek et al., 2007). Factual genetic knowledge was positively related to education and perceived heredity of one's illness. The importance or emphasis placed on genetic counseling topics has been studied among adults at high-risk for hereditary cancers. Scandinavian patients referred for cancer genetics counseling rated medical facts and practical care, such as surveillance recommendations, as most important and placed less emphasis on basic genetic information and supportive care (Roshanai et al., 2012). However, older, female cancer patients also rated the need for information and support in sharing genetic information high in importance when compared to other participants. Among young women with breast cancer, the most frequently identified need for information related to genetics was the impact of their diagnosis on their children's risk followed by impact on other family member's risk (Cohn et al., 2003). Fewer participants identified a need for information about genetic counseling or testing. Australian Jewish women at risk for hereditary breast–ovarian cancer ranked the following genetic counseling topics from highest to lowest based on preference: cancer and genetic risk, breast–ovarian cancer surveillance, preparation for testing, and help with making testing decisions (Apicella et al., 2006). American women at risk for a genetic mutation for breast–ovarian cancer sought information support from their health-care provider about the meaning of a genetic mutation in their family and risk reduction strategies (Crotser & Dickerson, 2010). They advised health-care providers to explain issues related to genetic testing (e.g., the meaning of test results, emotions associated with testing, and risk-reduction options) during pretest counseling. Because the concept of importance signals a quality of significance and a value judgment of worth, inquiry about adults' perceptions about the importance of genetic counseling topics will help providers consider relevant information from the patient perspective as genetic testing for common, complex disorders evolves. Likewise, knowledge about adults' expectations for the benefits and negative effects of testing and sharing of test results provides a consumerfocused view of the genetic counseling/testing process that providers can use when discussing the genetic testing process with their patients.
2.1. Purpose of the study The purpose of this study was to describe perceptions of the importance of selected genetic counseling topics and expectations about the genetic testing among adults who expressed an interest in genetics by attending a public genetic education program. Based on the literature review, gender and genetic knowledge were chosen to explore group differences in perceptions. The research questions were: (1) How important are selected topics that may be discussed during genetic counseling?; (2) What are perceived benefits and negative effects of genetic testing?; (3) With which relatives would participants share genetic test results?, and (4) What are potential reasons for not sharing genetic test results with relatives? 3. Methods 3.1. Design and sample A cross-sectional, descriptive design was used. Coordinators at a public education program addressing the health implications of advances in genetic knowledge invited 241 attendees to complete an investigator-developed, anonymous written survey. Invitation letters and survey packets were given to adults at the registration desk when they attended for the first time at either the first or second week of a 4-week program. The program was sponsored by and held at a U.S. mid-western university medical center, with satellite broadcast and telephone communication to six designated community sites resulting in two urban and five rural locations. Of those invited, 166 (68%) accepted a packet. Half (n = 123; 51%) returned a completed survey at their first session or afterward by postage-paid mail. The Institutional review board of the university that sponsored the program approved the study. Completion of a survey was considered consent to participate. Surveys from seven participants reporting previous genetic counseling were excluded, leaving 116 (48%) for analysis. 3.2. Survey development The survey consisted of three quantitative and two qualitative components. Quantitative components, described below, addressed the importance of genetic topics, sharing genetic information, and background characteristics. Qualitative questions addressed the benefits and negative effects of genetic testing and reasons for not sharing genetic information with relatives. All questions were based on published literature for face validity and were reviewed by a medical geneticist, a genetic counselor, and a nurse researcher. Consensus was either achieved initially or reviewers' suggestions were used for item revisions. 3.2.1. Importance of genetic topics Twelve items addressed the importance of selected genetic topics (see Table 1). Response options ranged from 1 (not at all important) to 5 (extremely important). Descriptive statistics were calculated to examine responses to individual items. The items were also summed into a composite score to explore group differences. A principal components analysis indicated three eigenvalues greater than one, with a distinct “elbow” at the second eigenvalue, supporting one factor and a composite score. The Cronbach alpha coefficient for the summed items was .82. 3.2.2. Sharing of genetic information Eleven items addressed the likelihood of sharing genetic information with first-degree and other relatives. Response options ranged from 1 (not at all likely) to 4 (extremely likely). The six conceptuallyrelated items addressing first-degree relatives (adult children, adolescent children, mother, father, brothers, sisters) and the five items addressing other relatives (aunts, uncles, nieces/nephews, cousins, other relatives)
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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Table 1 Descriptive statistics for participants' ratings of the importance of genetic topics. Genetic topic
n
Extremely/Very important
Moderately important
Somewhat/Not important
Mean (SD)
Ways to reduce risk for developing condition How genetic condition affects daily life Availability of genetic testing to determine risk Education about meaning of genetic test results Manner of inheritance Benefits of knowing or not knowing genetic information Limitations and risks of genetic testing Possible emotional reactions to genetic test results Possible impact of test results on family relationships Ethical dilemmas that may affect family members Genetic counselor's recommendation(s) about genetic testing Specific gene causing condition
115 114 114 114 114 113 114 114 114 112 114 114
114 (99%) 111 (97%) 105 (92%) 106 (93%) 93 (82%) 91 (81%) 92 (81%) 94 (83%) 89 (78%) 85 (76%) 66 (58%) 64 (56%)
1 (1%) 3 (3%) 8 (7%) 6 (5%) 15 (13%) 18 (16%) 14 (12%) 14 (12%) 18 (16%) 19 (17%) 30 (26%) 29 (25%)
0 (0%) 0 (0%) 1 (1%) 2 (2%) 6 (5%) 4 (3%) 8 (7%) 6 (5%) 7 (6%) 8 (7%) 18 (16%) 21 (19%)
4.92 4.82 4.56 4.53 4.31 4.24 4.22 4.19 4.17 4.11 3.71 3.63
(0.30) (0.45) (0.66) (0.72) (0.89) (0.88) (0.97) (0.85) (0.94) (1.02) (1.15) (1.20)
3.2.3. Background information Background items addressed selected demographic characteristics, previous genetic education, participation in genetic counseling, and whether participants lived in an urban or rural environment. Perceived health status was rated on a five-point scale: poor (1) to excellent (5).
84 years (M = 47.9; SD = 15.5). The dominant religious affiliation was Protestant (n = 58; 53%), followed by Catholic (n = 38; 35%). Most participants had a baccalaureate degree or graduate education (n = 73; 63 %), and 37 % (n = 40) reported having a college genetics course. Most attended at an urban site (n = 90; 78 %) and completed the questionnaire at the first session (n = 85; 73%). On average participants rated their health as good (M = 3.71; SD = .90). There were no significant differences in demographic characteristics and perceived health based on urban/rural location or whether participants completed the questionnaire at the first session or later. Rural participants were more likely to have completed the questionnaire after the first session (χ2 = 7.20, df = 1, p = .007). However, there were no significant differences in responses to the quantitative questions based on completion at first session or later.
3.3. Data analysis
4.2. Importance of genetic topics
Descriptive statistics were calculated for quantitative items. Chi square tests were used to determine group differences with regard to the following background variables: gender, marital status (married/ other), education (b/≥ baccalaureate degree) and college genetics course (yes/no), ethnicity (Caucasian/other), religion (Protestant/other), income (b/≥ $50,000/year), perceived health, place of program attendance (urban/rural location), and time of survey completion (first session/ later). Because of unequal groups when participants were classified by background variables, the Mann Whitney U test was used to determine group differences with regard to the importance of genetic topics and sharing genetic information. A paired-sample t-test was used to determine differences in responses to sharing genetic testing results with first-degree relatives versus other relatives. Statistical significance was set at p ≤ .05. Qualitative responses were analyzed with content analysis. The Miles and Huberman (1994) strategy was used to identify a priori codes from the literature review and our clinical experience. The codes were revised based on categories that emerged from the qualitative data. The first two authors categorized the qualitative data using the revised coding scheme. Discrepancies were discussed until 100% agreement was reached. Initial inter-rater agreement was .80 for potential benefits of testing, .75 for negative effects, and .73 for reasons for not sharing genetic information. Categories were grouped to identify broader themes. Co-authors reviewed the themes and their descriptions for comprehensiveness and clarity.
Table 1 presents descriptive statistics for the importance of selected genetic counseling topics. Mean ratings were high, above 3.50 on the five-point rating scale. The first four topics were rated "very to extremely important" (i.e., mean ≥ 4.50) and focused on practical information that would help individuals manage a hereditary disorder/condition. The next six topics were rated “very important” (i.e., mean above 4.00, but below 4.50). These topics primarily addressed information about the psychosocial implications of genetic testing that would aid in decision-making. The remaining two topics were rated “moderately important” (i.e., mean above 3.50, but below 4.00). They addressed basic genetic knowledge that would aid in understanding genetic testing or informing decisions about testing. Participants who reported having a college genetics course rated the topics higher (M = 53.03; SD = 5.66) than others (M = 50.39; SD = 6.45), z = −2.08, p = .04. There were no significant differences based on gender.
were summed into two separate composite scores. A principal components analysis indicated three components. The first component consisted of second-degree relatives. The other two components represented firstdegree relatives, with mother, father, brother, and sister in the second component and adult and adolescent children in the third. It was logical to combine the first-degree relative items, which was supported by an alpha coefficient of .79. The alpha coefficient for the other relative items was .94.
4. Results 4.1. Sample The majority of participants were female (n = 92; 79%), Caucasian (n = 111; 96%), and married (n = 73; 63%). Ages ranged from 19 to
4.3. Benefits and negative effects of genetic testing Table 2 presents the themes, descriptions, examples, and frequencies for potential benefits and negative effects of genetic testing. The responses column indicates the number of statements that were coded for each theme. The 191 responses identifying benefits were coded into four themes: (a) prevention/early detection, (b) obtaining information/ risk assessment; (c) reproductive decision-making, and (d) health-care and life-planning decisions. The 193 responses indicating negative effects were coded into eight identified themes: (a) psychological distress; (b) discrimination; (c) ethical/moral and religious issues; (d) knowledge/ decision-making uncertainty; (e) fatalism/hopelessness; (f) interpersonal relationship problems, (g) privacy/confidentiality issues, and (h) practical limitations. The participants column shows the number of participants contributing responses for each theme. With regard to benefits of genetic testing, prevention/early detection was identified by 71% of participants,
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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Table 2 Themes, description, examples, and frequencies for benefits and negative effects of genetic testing. Themes, descriptions, and examples for benefits
Responses (N = 191; 100%)
Participants (N = 116; 100%)
Prevention/early detection: Primary and secondary prevention to: (a) eliminate or postpone disease; (b) promote cure or (c) prevent complications. "Modify lifestyle to decrease risks contributing to disease"; "Early intervention/correction." Obtaining information/risk assessment: Desire for knowledge about genetic diseases/conditions, particularly about risk or susceptibility. "Understand how inherited”; “Can prepare self/family mentally/emotionally." Reproductive decision-making: Using genetic testing for family planning. "Reproductive decisions for self and future generations"; “Consider whether to conceive or adopt." Health-care/life-planning decision-making: Using genetic testing for medical and life-planning decisions, excluding reproduction. "Help family plan for what might happen”; "Determine the viability of proactive treatment procedures"; "Financial planning."
108 (57%)
83 (71%)
41 (21%)
33 (28%)
30 (16%)
30 (26%)
12 (6 %)
12 (10%)
Themes, descriptions, and examples for negative effects
Responses (N = 193; 100%)
Psychological distress: Negative thoughts, emotions, and behaviors due to genetic testing. "Worry about it"; "Some cannot deal with knowledge (suicidal)." Discrimination: Adversity related to securing employment, insurance benefits, or experiencing stigma. "Denial of employment”; “Adversely affect insurance availability or cost”;"Ostracism." Ethical/moral and religious issues: Testing may violate societal mores or religious teaching. "Pregnancy may be aborted"; "Religion; against God's nature." Knowledge/decision-making uncertainty: Testing results may cause cognitive burden. "Knowing have fatal disease genes, but not knowing when it will strike"; "Trying to decide what to do if news is bad." Fatalism/hopelessness: Cognitive–Emotional distress related to beliefs that genetic conditions cannot be changed and involve hardships. "Might feel once problematic gene located [then you are] doomed to suffer"; "Testing for disease without cures/treatment [is] pointless." Interpersonal relationship problems: Potential for disruptions in relationships and communication between individuals regarding genetic information. “Marital distress if condition cannot be prevented/treated”; “Family relations broken or disrupted.” Loss of privacy/confidentiality: Loss of control over decisions regarding sharing genetic information. “Federal/state/local – whose information is it?”; “Confidentiality issues.” Practical limitations: Concerns about affordability and utility of genetic testing. “Expense”; “Old, not as much value”.
whereas 33% or less identified other benefits. For negative effects, half of the participants (50%) contributed responses for the theme of psychological distress. Similar to themes identifying benefits, 35 (30%) or fewer participants contributed responses for other themes describing negative effects. 4.4. Likelihood of sharing genetic information There was a significant difference between perceptions of sharing genetic information with first-degree (M = 3.41; SD = .60) and Other Relatives (M = 2.52; SD = .89), t (91) = 12.37, p b .01 (twotailed). There were no significant differences in perceptions of sharing based on gender or genetic education. 4.5. Reasons for not sharing genetic information Table 3 presents the themes, descriptions, and frequencies for the reasons for not sharing genetic information with family members. The 71 responses were coded into 9 themes: (a) protection from potential harm; (b) sharing determined by situation; (c) lack of benefit of disclosure; (d) guilt or stigma related to genetic information; (e) family communication barriers/issues; (f) potential disruption of family relationships/lifestyles; (g) inability of family members to understand genetic information; (h) privacy or ethical issues, and (i) respect for information preferences. The participant column in Table 3 shows that 17 (15%) or fewer participants contributed statements for each of these themes. 5. Discussion Importance ratings suggested that participants most valued practical information about ways to reduce risk for a genetic condition and how the
Participants (N = 116; 100%)
69 (36%)
58 (50%)
44 (23%)
35 (30%)
22 (11%)
18 (15%)
18 (9%)
18 (15%)
13 (7%)
12 (10%)
12 (6%)
12 (10%)
12 (6%)
10 (9%)
3 (2%)
3 (2%)
condition would affect daily life. Rated as less important were topics that could support decision-making related to genetic testing, such as the limitations and risks of genetic testing and ethical dilemmas. The lower ratings for the psychosocial aspects of testing (e.g., emotional reactions and impact of results on family) indicated agreement with responses of Scandinavian genetic counselees at-risk for cancer (Roshanai et al., 2012), who placed highest importance on medical facts and practical information to manage their health risks. In contrast, American women at risk for a BRCA1/2 mutation recommended that health-care providers include discussion of the meaning of test results and emotional reactions to testing as part of pretesting counseling (Crotser & Dickerson, 2010). Participants rated the availability of a genetic test higher than a counselor's recommendation for testing, which is in agreement with the preferences for genetic information among women at high-risk for breast–ovarian cancer (Apicella et al., 2006). Participants who reported taking a college genetics course rated the topics as more important than other participants, suggesting that knowledge about genetics influences perceptions about genetic information. The topic addressing information about the specific genetic mutation causing the condition was rated lowest in importance, suggesting that participants did not recognize the contribution of conceptual genetic knowledge to participation in care. There is current debate about the types of genetic knowledge that the public needs to make informed decisions, particularly whether knowledge about genetic principles (e.g., types of inheritance) is essential (Condit, 2010). In agreement with studies addressing the perceptions of adults in the general population, participants were aware of both potential benefits and negative effects of genetic testing. The themes describing the benefits emphasized the use of information for health-related decision-making and indicated a desire to participate actively in health care. These themes are congruent with participants' placing
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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Table 3 Themes, descriptions, and examples for participants' reasons for not sharing genetic information with family members. Themes, descriptions and examples
Responses Participants (N = 71; 100%) (N = 116; 100%)
Protection from potential harm: Protecting family members from psychological distress or exacerbation of existing health problems. 17 (24%) "Afraid they may worry too much"; "Someone with health problems, knowledge would add to (illness)." Sharing determined by situation: Family situation determines decision to share genetic information. 16 (23%) "Depends on relationships established with those members"; "Depends on disease; who [it] would affect." Lack of benefit of disclosure: Sharing genetic information would not benefit other family members. 7 (10%) "Less relevant for distant/removed family members"; "Person can't do anything about children [they] already have." 6 (8%) Guilt or stigma related to genetic information: Emotional burdens of family members who may have transmitted the gene or negative societal response to a genetic disease/condition. "Fear parents might feel guilty for passing on disease/condition"; "Some diseases 'taboo' to certain persons/generations.” Family communication barriers/issues: Interpersonal and logistic communication problems or barriers within family would limit 5 (7%) sharing genetic information. "Family rarely gets together/talk about such matters"; "Distance; do not know all addresses.” Potential disruption of family relationships/lifestyles: Concern that genetic information would have a negative effect on family functioning. 5 (7%) “Disrupting other family members' lifestyles"; "Family members may turn against you.” Inability of family members to understand information: Cognitive ability or educational level prohibits accurate understanding of 5 (7%) genetic information. "Not educated to understand basic genetic information"; "Careful with what to say to a child.” Privacy or ethical issues: Limiting genetic information from those without a legitimate need or from those who would misuse it. 5 (7%) "Some relatives are snoopy”; "Groups may use information in less than ethical ways.” Respect for information preferences: Recognition that family members vary in the type and amount of health-related information 5 (7%) they want. “Not all family members would want to know”; “Does person care to know information?”
high importance on counseling topics that incorporated information to prevent or manage genetic conditions. Responses categorized as negative effects highlight the unintended psychosocial consequences of testing. The eight categories suggest that participants' perceptions of testing were developed to the degree that they could distinguish consequences to self and family (e.g., worry, uncertainty, disruption of family relationships) and consequences to the larger society (e.g., discrimination, ownership of genetic information). The specificity of themes describing the negative consequences of testing, which were mostly psychosocial, is somewhat incongruent with participants' ratings of the psychosocial aspects of testing as only moderately important to discuss during genetic counseling. Participants indicated that they were more likely to share genetic information with first-degree than other relatives. In contrast to the finding that ratings of the importance of genetic topics differed based on previous genetic education, genetic education did not affect ratings about sharing information. There were also no gender differences in perceptions of sharing information as was found among patients with chronic disease (Morren et al., 2007), where more females reported intent to share results with siblings. Fewer participants identified reasons for not sharing genetic information than those identifying benefits and negative effects, suggesting that participants were less familiar with the post-testing process. Reasons for not sharing genetic information with family members indicated that participants viewed the family as a system that could be altered or disrupted by communication of genetic information. This finding is congruent with the conclusions of a recent literature synthesis that communication of genetic risk information between parents and children is a complex, affective process that can result in delayed disclosure (Rowland & Metcalfe, 2013). Responses are also consistent with participants identifying interpersonal relationship problems as a potential negative effect of genetic testing. The most frequent theme for not sharing genetic information was to protect family members from harm, either psychological or physical, due to stress that the information may evoke. Although participants did not indicate that genetic information per se could cause a physical illness among family members as suggested by older participants in Frazier et al. (2006), they did indicate that the information could add to the illness burden of relatives experiencing health problems. Other themes suggested that knowledge about family members' characteristics (e.g., intelligence or coping abilities) or preferences and family dynamics would influence decision-making about disclosure. Finally, responses suggest reasons for not sharing genetic information with second-degree relatives. The
17 (15%) 14 (12%) 7 (6%) 6 (5%)
5 (4%) 5 (4%) 5 (4%) 5 (4%) 5 (4%)
themes emphasized the family as a social system and the interpersonal consequences of sharing, which did not necessarily take into account biological relationships. Limitations of this study include convenience sampling and sample homogeneity, which limits the generalizability of the findings. Participants resided in a midwestern state and voluntarily attended a public genetics educational program. Over one-third of participants reported taking a college genetics course. Participants' perceptions about genetics may not reflect the perceptions of adults with other backgrounds. The sample, however, is similar to adults who are likely to pursue genetic testing (Darst et al., 2014). All data were self-reported. We had no means to verify the accuracy of participants' background characteristics, including past exposure to genetic education. In addition, because the data were anonymous, we could not verify the qualitative themes with a subset of participants. To better understand adults' perceptions of genetic counseling, future research can determine adults' rationale for the importance ratings they assign to genetic counseling topics. Additional understanding can be gained by determining whether knowledge about the benefits and negative effects of genetic testing is related to perceptions about the importance of genetic counseling topics. As part of this research, a psychometric validity study of the survey items addressing the importance of genetic counseling topics and sharing of testing results can be conducted. Another critical research topic is to determine whether genetic education that incorporates knowledge about genetic principles, such as mechanisms of inheritance, influences intentions to share genetic information. Future research can also explore how social dynamics of the family influence decisions to share genetic information, especially among adults who have knowledge of genetic principles. Finally, future studies can address adults' perceptions of strategies to address potential difficulties related to sharing genetic testing results, such as professional support as discussed in Frazier et al. (2006) and Roshanai et al. (2012). 6. Conclusions Findings from this study suggest several clinical implications. As part of the nurse's role in helping patients understand and use genetic/genomic information, asking patients about their perceptions of the importance of genetic counseling topics communicates a willingness to consider preferences and needs. By obtaining patients' perceptions about the benefits and negative effects of testing, nurses can gain insight about patients' knowledge about genetics, reinforce
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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accurate conceptualizations, and address misconceptions. Participants' responses suggest that they valued practical knowledge to prevent or manage genetic conditions. A potential strategy to promote receptivity to conceptual genetic/genomic principle is to communicate explicitly how this knowledge will promote patients' ability to participate fully in their care. Participants' reasons for not sharing genetic test results with relatives focused on interpersonal relationships among family members. These reasons included a need to protect the family from potential psychological or physical harm, which nurses can acknowledge as thoughtful and well-intended. By presenting the family as both a biological and social system, nurses may help patients think about the implications of sharing test results with those who may be affected biologically. Nurses also need to be sensitive to patients' support needs related to communicating genetic test results. After disclosure of test results, assessing patients for post-testing support needs and referral to these services may minimize delayed disclosure to family members who may benefit from testing. In summary, participants rated prevention or management of genetic conditions more important than psychosocial responses to genetic testing and theoretical genetic knowledge. Topics rated most important were congruent with the most frequently identified benefits of testing, which were prevention/early detection and treatment of genetic conditions. Participants indicated that they were more likely to share tests results with first- than second-degree relatives. They cited minimization of harm or distress as reasons for not sharing test results with family members, which was congruent with their identification of psychological distress as the most frequent negative effect of testing. Nurses providing genetic education can provide patients with practical knowledge to prevent or manage genetic conditions, while also determining whether teaching conceptual genetic/genomic principles will facilitate their self-care abilities.
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Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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Adults' perceptions of genetic counseling and genetic testing Julia Fisco Houfek, PhD, APRN-CNS a,⁎, Brigette S. Soltis-Vaughan, MSN, APRN-NP b, 1, Jan R. Atwood, PhD, FAAN c, 2, Gwendolyn M. Reiser, MS, CGC b, 3, G. Bradley Schaefer, MD, FACMG d, 4 a
University of Nebraska Medical Center, College of Nursing, 985330 Nebraska Medical Center, Omaha, NE 68198-5330, USA University of Nebraska Medical Center, College of Medicine, 985520 Nebraska Medical Center, Omaha, NE 68198-5520, USA University of Nebraska Medical Center, College of Public Health, 984355 Nebraska Medical Center, Omaha, NE 68198-4355, USA d Division of Medical Genetics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital Slot 512-22, Little Rock, AR 72211, USA b c
a r t i c l e
i n f o
Article history: Received 24 July 2013 Revised 20 February 2014 Accepted 5 March 2014 Available online xxxx Keywords: Genetics Genetic knowledge Genetic testing Patient education
a b s t r a c t Purpose: This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Methods: Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Results: Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Conclusions: Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. © 2014 Elsevier Inc. All rights reserved.
1. Introduction Scientific knowledge about the contributions of genomic variation to both rare and common diseases is growing at a rapid pace. This knowledge plus the technological advances in DNA sequencing will result in increased clinical applications (Green & Guyer, 2011). People will have unprecedented opportunities to learn about their genetic susceptibility to common diseases and how gene-environment interactions can affect their health (Feero et al., 2010). Nurses have a key role in helping patients understand and use health-related genetic and genomic information (Greco & Salveson, 2009). An identified gap in genomic nursing science, which will help nurses fulfill this role, is knowledge about individuals' expectations of providers and their self-management
⁎ Corresponding author at: University of Nebraska Medical Center, College of Nursing, 985330 Nebraska Medical Center, Omaha, NE 68198-5330, USA. Tel.: +1 402 559 6542; fax: +1 402 559 8188. E-mail addresses: [email protected] (J.F. Houfek), [email protected] (B.S. Soltis-Vaughan), [email protected] (J.R. Atwood), [email protected] (G.M. Reiser), [email protected] (G.B. Schaefer). 1 Tel.: +1 402 552 6239; fax: +1 402 552 6247. 2 Tel.: +1 520 360 2369. 3 Tel.: +1 402 559 4161; fax: +1 402 559 5737. 4 Tel.: +1 501 346 2971; fax: +1 501 346 1564.
strategies when encountering genomic-based health care for common, complex disorders (Calzone et al., 2013). Research about adults' perceptions of genetic counseling and their expectations for genetic testing will help address this gap. A relevant group for study is adults who express an interest in genetics because they will likely be early adopters of genetic testing, whether ordered by their health-care provider or through direct-to-consumer marketing. An educational program for the public about genetics and health provided an opportunity to survey attendees about their perceptions of genetic counseling and testing.
2. Perceptions of genetic counseling and testing Research suggests that individuals' perceptions of genetic disease susceptibility influence their use of risk reduction behaviors (Vos et al., 2012). Considering patients' perceptions of genetic conditions and services during genetic counseling also facilitated their understanding of the information provided and satisfaction with the counseling experience (Skirton & Eiser, 2003). Research addressing perceptions of genetic information and services has focused on three groups: (a) adults in the general population; (b) patients with chronic illnesses, and (c) adults at high-risk for hereditary cancers. No published studies were found that addressed the perceptions about genetic counseling and testing among
0897-1897/$ – see front matter © 2014 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.apnr.2014.03.001
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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adults who express an interest in genetics, but had not participated in genetic counseling or testing. Studies about perceptions of genetics among adults in the general population found that although they lacked scientific genetic knowledge, they recognized the potential benefits and limitations of genetic testing (Catz et al., 2005; Frazier et al., 2006; Rew et al., 2010; Rose et al., 2005; Skirton et al., 2006). Benefits of testing included increasing control over one's life (Rose et al.), preventing disease (Catz et al.), and providing information for future generations (Frazier et al., Skirton et al.). Limitations of testing included emotional distress about results, discrimination, test credibility, treatment expense, and confidentiality breaches. Older adults wanted professional support when sharing results and indicated they would disclose results selectively to family members based on ability to take preventive action (Skirton et al.). They were concerned that communicating results to family members might cause psychological distress or actual physical illness (Frazier et al., Skirton et al.). These studies did not address adults' perceptions of specific genetic topics or issues that may be discussed during counseling. Dutch patients with common, chronic diseases had positive attitudes about genetic testing (Morren et al., 2007). Females reported significantly more perceived genetic knowledge. However, they were less interested in testing if treatment was not available. Females were also more likely to indicate they would inform siblings of test results. Specific reasons for disclosing or withholding results with family were not explored. A follow-up survey found that a less favorable attitude towards genetic testing was related to less perceived medical knowledge and greater perceived psychosocial knowledge about genetics (Calsbeek et al., 2007). Factual genetic knowledge was positively related to education and perceived heredity of one's illness. The importance or emphasis placed on genetic counseling topics has been studied among adults at high-risk for hereditary cancers. Scandinavian patients referred for cancer genetics counseling rated medical facts and practical care, such as surveillance recommendations, as most important and placed less emphasis on basic genetic information and supportive care (Roshanai et al., 2012). However, older, female cancer patients also rated the need for information and support in sharing genetic information high in importance when compared to other participants. Among young women with breast cancer, the most frequently identified need for information related to genetics was the impact of their diagnosis on their children's risk followed by impact on other family member's risk (Cohn et al., 2003). Fewer participants identified a need for information about genetic counseling or testing. Australian Jewish women at risk for hereditary breast–ovarian cancer ranked the following genetic counseling topics from highest to lowest based on preference: cancer and genetic risk, breast–ovarian cancer surveillance, preparation for testing, and help with making testing decisions (Apicella et al., 2006). American women at risk for a genetic mutation for breast–ovarian cancer sought information support from their health-care provider about the meaning of a genetic mutation in their family and risk reduction strategies (Crotser & Dickerson, 2010). They advised health-care providers to explain issues related to genetic testing (e.g., the meaning of test results, emotions associated with testing, and risk-reduction options) during pretest counseling. Because the concept of importance signals a quality of significance and a value judgment of worth, inquiry about adults' perceptions about the importance of genetic counseling topics will help providers consider relevant information from the patient perspective as genetic testing for common, complex disorders evolves. Likewise, knowledge about adults' expectations for the benefits and negative effects of testing and sharing of test results provides a consumerfocused view of the genetic counseling/testing process that providers can use when discussing the genetic testing process with their patients.
2.1. Purpose of the study The purpose of this study was to describe perceptions of the importance of selected genetic counseling topics and expectations about the genetic testing among adults who expressed an interest in genetics by attending a public genetic education program. Based on the literature review, gender and genetic knowledge were chosen to explore group differences in perceptions. The research questions were: (1) How important are selected topics that may be discussed during genetic counseling?; (2) What are perceived benefits and negative effects of genetic testing?; (3) With which relatives would participants share genetic test results?, and (4) What are potential reasons for not sharing genetic test results with relatives? 3. Methods 3.1. Design and sample A cross-sectional, descriptive design was used. Coordinators at a public education program addressing the health implications of advances in genetic knowledge invited 241 attendees to complete an investigator-developed, anonymous written survey. Invitation letters and survey packets were given to adults at the registration desk when they attended for the first time at either the first or second week of a 4-week program. The program was sponsored by and held at a U.S. mid-western university medical center, with satellite broadcast and telephone communication to six designated community sites resulting in two urban and five rural locations. Of those invited, 166 (68%) accepted a packet. Half (n = 123; 51%) returned a completed survey at their first session or afterward by postage-paid mail. The Institutional review board of the university that sponsored the program approved the study. Completion of a survey was considered consent to participate. Surveys from seven participants reporting previous genetic counseling were excluded, leaving 116 (48%) for analysis. 3.2. Survey development The survey consisted of three quantitative and two qualitative components. Quantitative components, described below, addressed the importance of genetic topics, sharing genetic information, and background characteristics. Qualitative questions addressed the benefits and negative effects of genetic testing and reasons for not sharing genetic information with relatives. All questions were based on published literature for face validity and were reviewed by a medical geneticist, a genetic counselor, and a nurse researcher. Consensus was either achieved initially or reviewers' suggestions were used for item revisions. 3.2.1. Importance of genetic topics Twelve items addressed the importance of selected genetic topics (see Table 1). Response options ranged from 1 (not at all important) to 5 (extremely important). Descriptive statistics were calculated to examine responses to individual items. The items were also summed into a composite score to explore group differences. A principal components analysis indicated three eigenvalues greater than one, with a distinct “elbow” at the second eigenvalue, supporting one factor and a composite score. The Cronbach alpha coefficient for the summed items was .82. 3.2.2. Sharing of genetic information Eleven items addressed the likelihood of sharing genetic information with first-degree and other relatives. Response options ranged from 1 (not at all likely) to 4 (extremely likely). The six conceptuallyrelated items addressing first-degree relatives (adult children, adolescent children, mother, father, brothers, sisters) and the five items addressing other relatives (aunts, uncles, nieces/nephews, cousins, other relatives)
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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Table 1 Descriptive statistics for participants' ratings of the importance of genetic topics. Genetic topic
n
Extremely/Very important
Moderately important
Somewhat/Not important
Mean (SD)
Ways to reduce risk for developing condition How genetic condition affects daily life Availability of genetic testing to determine risk Education about meaning of genetic test results Manner of inheritance Benefits of knowing or not knowing genetic information Limitations and risks of genetic testing Possible emotional reactions to genetic test results Possible impact of test results on family relationships Ethical dilemmas that may affect family members Genetic counselor's recommendation(s) about genetic testing Specific gene causing condition
115 114 114 114 114 113 114 114 114 112 114 114
114 (99%) 111 (97%) 105 (92%) 106 (93%) 93 (82%) 91 (81%) 92 (81%) 94 (83%) 89 (78%) 85 (76%) 66 (58%) 64 (56%)
1 (1%) 3 (3%) 8 (7%) 6 (5%) 15 (13%) 18 (16%) 14 (12%) 14 (12%) 18 (16%) 19 (17%) 30 (26%) 29 (25%)
0 (0%) 0 (0%) 1 (1%) 2 (2%) 6 (5%) 4 (3%) 8 (7%) 6 (5%) 7 (6%) 8 (7%) 18 (16%) 21 (19%)
4.92 4.82 4.56 4.53 4.31 4.24 4.22 4.19 4.17 4.11 3.71 3.63
(0.30) (0.45) (0.66) (0.72) (0.89) (0.88) (0.97) (0.85) (0.94) (1.02) (1.15) (1.20)
3.2.3. Background information Background items addressed selected demographic characteristics, previous genetic education, participation in genetic counseling, and whether participants lived in an urban or rural environment. Perceived health status was rated on a five-point scale: poor (1) to excellent (5).
84 years (M = 47.9; SD = 15.5). The dominant religious affiliation was Protestant (n = 58; 53%), followed by Catholic (n = 38; 35%). Most participants had a baccalaureate degree or graduate education (n = 73; 63 %), and 37 % (n = 40) reported having a college genetics course. Most attended at an urban site (n = 90; 78 %) and completed the questionnaire at the first session (n = 85; 73%). On average participants rated their health as good (M = 3.71; SD = .90). There were no significant differences in demographic characteristics and perceived health based on urban/rural location or whether participants completed the questionnaire at the first session or later. Rural participants were more likely to have completed the questionnaire after the first session (χ2 = 7.20, df = 1, p = .007). However, there were no significant differences in responses to the quantitative questions based on completion at first session or later.
3.3. Data analysis
4.2. Importance of genetic topics
Descriptive statistics were calculated for quantitative items. Chi square tests were used to determine group differences with regard to the following background variables: gender, marital status (married/ other), education (b/≥ baccalaureate degree) and college genetics course (yes/no), ethnicity (Caucasian/other), religion (Protestant/other), income (b/≥ $50,000/year), perceived health, place of program attendance (urban/rural location), and time of survey completion (first session/ later). Because of unequal groups when participants were classified by background variables, the Mann Whitney U test was used to determine group differences with regard to the importance of genetic topics and sharing genetic information. A paired-sample t-test was used to determine differences in responses to sharing genetic testing results with first-degree relatives versus other relatives. Statistical significance was set at p ≤ .05. Qualitative responses were analyzed with content analysis. The Miles and Huberman (1994) strategy was used to identify a priori codes from the literature review and our clinical experience. The codes were revised based on categories that emerged from the qualitative data. The first two authors categorized the qualitative data using the revised coding scheme. Discrepancies were discussed until 100% agreement was reached. Initial inter-rater agreement was .80 for potential benefits of testing, .75 for negative effects, and .73 for reasons for not sharing genetic information. Categories were grouped to identify broader themes. Co-authors reviewed the themes and their descriptions for comprehensiveness and clarity.
Table 1 presents descriptive statistics for the importance of selected genetic counseling topics. Mean ratings were high, above 3.50 on the five-point rating scale. The first four topics were rated "very to extremely important" (i.e., mean ≥ 4.50) and focused on practical information that would help individuals manage a hereditary disorder/condition. The next six topics were rated “very important” (i.e., mean above 4.00, but below 4.50). These topics primarily addressed information about the psychosocial implications of genetic testing that would aid in decision-making. The remaining two topics were rated “moderately important” (i.e., mean above 3.50, but below 4.00). They addressed basic genetic knowledge that would aid in understanding genetic testing or informing decisions about testing. Participants who reported having a college genetics course rated the topics higher (M = 53.03; SD = 5.66) than others (M = 50.39; SD = 6.45), z = −2.08, p = .04. There were no significant differences based on gender.
were summed into two separate composite scores. A principal components analysis indicated three components. The first component consisted of second-degree relatives. The other two components represented firstdegree relatives, with mother, father, brother, and sister in the second component and adult and adolescent children in the third. It was logical to combine the first-degree relative items, which was supported by an alpha coefficient of .79. The alpha coefficient for the other relative items was .94.
4. Results 4.1. Sample The majority of participants were female (n = 92; 79%), Caucasian (n = 111; 96%), and married (n = 73; 63%). Ages ranged from 19 to
4.3. Benefits and negative effects of genetic testing Table 2 presents the themes, descriptions, examples, and frequencies for potential benefits and negative effects of genetic testing. The responses column indicates the number of statements that were coded for each theme. The 191 responses identifying benefits were coded into four themes: (a) prevention/early detection, (b) obtaining information/ risk assessment; (c) reproductive decision-making, and (d) health-care and life-planning decisions. The 193 responses indicating negative effects were coded into eight identified themes: (a) psychological distress; (b) discrimination; (c) ethical/moral and religious issues; (d) knowledge/ decision-making uncertainty; (e) fatalism/hopelessness; (f) interpersonal relationship problems, (g) privacy/confidentiality issues, and (h) practical limitations. The participants column shows the number of participants contributing responses for each theme. With regard to benefits of genetic testing, prevention/early detection was identified by 71% of participants,
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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Table 2 Themes, description, examples, and frequencies for benefits and negative effects of genetic testing. Themes, descriptions, and examples for benefits
Responses (N = 191; 100%)
Participants (N = 116; 100%)
Prevention/early detection: Primary and secondary prevention to: (a) eliminate or postpone disease; (b) promote cure or (c) prevent complications. "Modify lifestyle to decrease risks contributing to disease"; "Early intervention/correction." Obtaining information/risk assessment: Desire for knowledge about genetic diseases/conditions, particularly about risk or susceptibility. "Understand how inherited”; “Can prepare self/family mentally/emotionally." Reproductive decision-making: Using genetic testing for family planning. "Reproductive decisions for self and future generations"; “Consider whether to conceive or adopt." Health-care/life-planning decision-making: Using genetic testing for medical and life-planning decisions, excluding reproduction. "Help family plan for what might happen”; "Determine the viability of proactive treatment procedures"; "Financial planning."
108 (57%)
83 (71%)
41 (21%)
33 (28%)
30 (16%)
30 (26%)
12 (6 %)
12 (10%)
Themes, descriptions, and examples for negative effects
Responses (N = 193; 100%)
Psychological distress: Negative thoughts, emotions, and behaviors due to genetic testing. "Worry about it"; "Some cannot deal with knowledge (suicidal)." Discrimination: Adversity related to securing employment, insurance benefits, or experiencing stigma. "Denial of employment”; “Adversely affect insurance availability or cost”;"Ostracism." Ethical/moral and religious issues: Testing may violate societal mores or religious teaching. "Pregnancy may be aborted"; "Religion; against God's nature." Knowledge/decision-making uncertainty: Testing results may cause cognitive burden. "Knowing have fatal disease genes, but not knowing when it will strike"; "Trying to decide what to do if news is bad." Fatalism/hopelessness: Cognitive–Emotional distress related to beliefs that genetic conditions cannot be changed and involve hardships. "Might feel once problematic gene located [then you are] doomed to suffer"; "Testing for disease without cures/treatment [is] pointless." Interpersonal relationship problems: Potential for disruptions in relationships and communication between individuals regarding genetic information. “Marital distress if condition cannot be prevented/treated”; “Family relations broken or disrupted.” Loss of privacy/confidentiality: Loss of control over decisions regarding sharing genetic information. “Federal/state/local – whose information is it?”; “Confidentiality issues.” Practical limitations: Concerns about affordability and utility of genetic testing. “Expense”; “Old, not as much value”.
whereas 33% or less identified other benefits. For negative effects, half of the participants (50%) contributed responses for the theme of psychological distress. Similar to themes identifying benefits, 35 (30%) or fewer participants contributed responses for other themes describing negative effects. 4.4. Likelihood of sharing genetic information There was a significant difference between perceptions of sharing genetic information with first-degree (M = 3.41; SD = .60) and Other Relatives (M = 2.52; SD = .89), t (91) = 12.37, p b .01 (twotailed). There were no significant differences in perceptions of sharing based on gender or genetic education. 4.5. Reasons for not sharing genetic information Table 3 presents the themes, descriptions, and frequencies for the reasons for not sharing genetic information with family members. The 71 responses were coded into 9 themes: (a) protection from potential harm; (b) sharing determined by situation; (c) lack of benefit of disclosure; (d) guilt or stigma related to genetic information; (e) family communication barriers/issues; (f) potential disruption of family relationships/lifestyles; (g) inability of family members to understand genetic information; (h) privacy or ethical issues, and (i) respect for information preferences. The participant column in Table 3 shows that 17 (15%) or fewer participants contributed statements for each of these themes. 5. Discussion Importance ratings suggested that participants most valued practical information about ways to reduce risk for a genetic condition and how the
Participants (N = 116; 100%)
69 (36%)
58 (50%)
44 (23%)
35 (30%)
22 (11%)
18 (15%)
18 (9%)
18 (15%)
13 (7%)
12 (10%)
12 (6%)
12 (10%)
12 (6%)
10 (9%)
3 (2%)
3 (2%)
condition would affect daily life. Rated as less important were topics that could support decision-making related to genetic testing, such as the limitations and risks of genetic testing and ethical dilemmas. The lower ratings for the psychosocial aspects of testing (e.g., emotional reactions and impact of results on family) indicated agreement with responses of Scandinavian genetic counselees at-risk for cancer (Roshanai et al., 2012), who placed highest importance on medical facts and practical information to manage their health risks. In contrast, American women at risk for a BRCA1/2 mutation recommended that health-care providers include discussion of the meaning of test results and emotional reactions to testing as part of pretesting counseling (Crotser & Dickerson, 2010). Participants rated the availability of a genetic test higher than a counselor's recommendation for testing, which is in agreement with the preferences for genetic information among women at high-risk for breast–ovarian cancer (Apicella et al., 2006). Participants who reported taking a college genetics course rated the topics as more important than other participants, suggesting that knowledge about genetics influences perceptions about genetic information. The topic addressing information about the specific genetic mutation causing the condition was rated lowest in importance, suggesting that participants did not recognize the contribution of conceptual genetic knowledge to participation in care. There is current debate about the types of genetic knowledge that the public needs to make informed decisions, particularly whether knowledge about genetic principles (e.g., types of inheritance) is essential (Condit, 2010). In agreement with studies addressing the perceptions of adults in the general population, participants were aware of both potential benefits and negative effects of genetic testing. The themes describing the benefits emphasized the use of information for health-related decision-making and indicated a desire to participate actively in health care. These themes are congruent with participants' placing
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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Table 3 Themes, descriptions, and examples for participants' reasons for not sharing genetic information with family members. Themes, descriptions and examples
Responses Participants (N = 71; 100%) (N = 116; 100%)
Protection from potential harm: Protecting family members from psychological distress or exacerbation of existing health problems. 17 (24%) "Afraid they may worry too much"; "Someone with health problems, knowledge would add to (illness)." Sharing determined by situation: Family situation determines decision to share genetic information. 16 (23%) "Depends on relationships established with those members"; "Depends on disease; who [it] would affect." Lack of benefit of disclosure: Sharing genetic information would not benefit other family members. 7 (10%) "Less relevant for distant/removed family members"; "Person can't do anything about children [they] already have." 6 (8%) Guilt or stigma related to genetic information: Emotional burdens of family members who may have transmitted the gene or negative societal response to a genetic disease/condition. "Fear parents might feel guilty for passing on disease/condition"; "Some diseases 'taboo' to certain persons/generations.” Family communication barriers/issues: Interpersonal and logistic communication problems or barriers within family would limit 5 (7%) sharing genetic information. "Family rarely gets together/talk about such matters"; "Distance; do not know all addresses.” Potential disruption of family relationships/lifestyles: Concern that genetic information would have a negative effect on family functioning. 5 (7%) “Disrupting other family members' lifestyles"; "Family members may turn against you.” Inability of family members to understand information: Cognitive ability or educational level prohibits accurate understanding of 5 (7%) genetic information. "Not educated to understand basic genetic information"; "Careful with what to say to a child.” Privacy or ethical issues: Limiting genetic information from those without a legitimate need or from those who would misuse it. 5 (7%) "Some relatives are snoopy”; "Groups may use information in less than ethical ways.” Respect for information preferences: Recognition that family members vary in the type and amount of health-related information 5 (7%) they want. “Not all family members would want to know”; “Does person care to know information?”
high importance on counseling topics that incorporated information to prevent or manage genetic conditions. Responses categorized as negative effects highlight the unintended psychosocial consequences of testing. The eight categories suggest that participants' perceptions of testing were developed to the degree that they could distinguish consequences to self and family (e.g., worry, uncertainty, disruption of family relationships) and consequences to the larger society (e.g., discrimination, ownership of genetic information). The specificity of themes describing the negative consequences of testing, which were mostly psychosocial, is somewhat incongruent with participants' ratings of the psychosocial aspects of testing as only moderately important to discuss during genetic counseling. Participants indicated that they were more likely to share genetic information with first-degree than other relatives. In contrast to the finding that ratings of the importance of genetic topics differed based on previous genetic education, genetic education did not affect ratings about sharing information. There were also no gender differences in perceptions of sharing information as was found among patients with chronic disease (Morren et al., 2007), where more females reported intent to share results with siblings. Fewer participants identified reasons for not sharing genetic information than those identifying benefits and negative effects, suggesting that participants were less familiar with the post-testing process. Reasons for not sharing genetic information with family members indicated that participants viewed the family as a system that could be altered or disrupted by communication of genetic information. This finding is congruent with the conclusions of a recent literature synthesis that communication of genetic risk information between parents and children is a complex, affective process that can result in delayed disclosure (Rowland & Metcalfe, 2013). Responses are also consistent with participants identifying interpersonal relationship problems as a potential negative effect of genetic testing. The most frequent theme for not sharing genetic information was to protect family members from harm, either psychological or physical, due to stress that the information may evoke. Although participants did not indicate that genetic information per se could cause a physical illness among family members as suggested by older participants in Frazier et al. (2006), they did indicate that the information could add to the illness burden of relatives experiencing health problems. Other themes suggested that knowledge about family members' characteristics (e.g., intelligence or coping abilities) or preferences and family dynamics would influence decision-making about disclosure. Finally, responses suggest reasons for not sharing genetic information with second-degree relatives. The
17 (15%) 14 (12%) 7 (6%) 6 (5%)
5 (4%) 5 (4%) 5 (4%) 5 (4%) 5 (4%)
themes emphasized the family as a social system and the interpersonal consequences of sharing, which did not necessarily take into account biological relationships. Limitations of this study include convenience sampling and sample homogeneity, which limits the generalizability of the findings. Participants resided in a midwestern state and voluntarily attended a public genetics educational program. Over one-third of participants reported taking a college genetics course. Participants' perceptions about genetics may not reflect the perceptions of adults with other backgrounds. The sample, however, is similar to adults who are likely to pursue genetic testing (Darst et al., 2014). All data were self-reported. We had no means to verify the accuracy of participants' background characteristics, including past exposure to genetic education. In addition, because the data were anonymous, we could not verify the qualitative themes with a subset of participants. To better understand adults' perceptions of genetic counseling, future research can determine adults' rationale for the importance ratings they assign to genetic counseling topics. Additional understanding can be gained by determining whether knowledge about the benefits and negative effects of genetic testing is related to perceptions about the importance of genetic counseling topics. As part of this research, a psychometric validity study of the survey items addressing the importance of genetic counseling topics and sharing of testing results can be conducted. Another critical research topic is to determine whether genetic education that incorporates knowledge about genetic principles, such as mechanisms of inheritance, influences intentions to share genetic information. Future research can also explore how social dynamics of the family influence decisions to share genetic information, especially among adults who have knowledge of genetic principles. Finally, future studies can address adults' perceptions of strategies to address potential difficulties related to sharing genetic testing results, such as professional support as discussed in Frazier et al. (2006) and Roshanai et al. (2012). 6. Conclusions Findings from this study suggest several clinical implications. As part of the nurse's role in helping patients understand and use genetic/genomic information, asking patients about their perceptions of the importance of genetic counseling topics communicates a willingness to consider preferences and needs. By obtaining patients' perceptions about the benefits and negative effects of testing, nurses can gain insight about patients' knowledge about genetics, reinforce
Please cite this article as: Houfek, J.F., et al., Adults' perceptions of genetic counseling and genetic testing, Applied Nursing Research (2014), http://dx.doi.org/10.1016/j.apnr.2014.03.001
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accurate conceptualizations, and address misconceptions. Participants' responses suggest that they valued practical knowledge to prevent or manage genetic conditions. A potential strategy to promote receptivity to conceptual genetic/genomic principle is to communicate explicitly how this knowledge will promote patients' ability to participate fully in their care. Participants' reasons for not sharing genetic test results with relatives focused on interpersonal relationships among family members. These reasons included a need to protect the family from potential psychological or physical harm, which nurses can acknowledge as thoughtful and well-intended. By presenting the family as both a biological and social system, nurses may help patients think about the implications of sharing test results with those who may be affected biologically. Nurses also need to be sensitive to patients' support needs related to communicating genetic test results. After disclosure of test results, assessing patients for post-testing support needs and referral to these services may minimize delayed disclosure to family members who may benefit from testing. In summary, participants rated prevention or management of genetic conditions more important than psychosocial responses to genetic testing and theoretical genetic knowledge. Topics rated most important were congruent with the most frequently identified benefits of testing, which were prevention/early detection and treatment of genetic conditions. Participants indicated that they were more likely to share tests results with first- than second-degree relatives. They cited minimization of harm or distress as reasons for not sharing test results with family members, which was congruent with their identification of psychological distress as the most frequent negative effect of testing. Nurses providing genetic education can provide patients with practical knowledge to prevent or manage genetic conditions, while also determining whether teaching conceptual genetic/genomic principles will facilitate their self-care abilities.
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