Interest in Genetic Testing for Modest Changes in Breast Cancer Risk: Implications for SNP Testing

Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20007, USA. kdg9 @
Public Health Genomics (Impact Factor: 2.21). 04/2011; 14(3):178-89. DOI: 10.1159/000324703
Source: PubMed


Advances in genomics may eventually lead to 'personalized genetic medicine,' yet the clinical utility of predictive testing for modest changes in risk is unclear. We explored interest in genetic testing for genes related to modest changes in breast cancer risk in women at moderate to high risk for breast cancer.
Women (n = 105) with a negative breast biopsy and ≥1 relative with breast or ovarian cancer completed telephone surveys. We measured demographic and psychosocial variables and, following presentation of hypothetical scenarios of genetic tests for lower-penetrance breast cancer gene mutations, assessed interest in willingness to pay for and comprehension of test results. We used logistic regression models with generalized estimating equations to evaluate combinations of risk level, cost and behavioral modifiers.
Many women (77%) reported 'definite' interest in genetic testing, with greater interest in tests that conveyed more risk and cost less. Behavioral modifiers of risk (taking a vitamin; diet/exercise), having a regular physician, greater perceived benefits of genetic testing, and greater cancer worry also influenced interest. Most participants (63%) did not understand relative vs. absolute risk. Women with less understanding reported more cancer worry and greater willingness to pay for testing.
Interest in genetic testing for mutations related to modest changes in risk was high, modified by both test and psychosocial factors. Findings highlight the need for education about benefits and risks of testing for mutations that convey modest changes in risk, particularly given the current lack of clinical validity/utility and availability of direct-to-consumer genetic testing.

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    • "Purchasing genomic risk assessments online allows patients to bypass their healthcare provider yet patients may have difficulty interpreting test results and may request providers help interpret results [13]. With increasing consumer interest in genomic testing [14,15] and evidence that providers are often not sufficiently educated in genetics to deliver clinical genetic services [16-18] there is a need to develop optimal strategies for appropriately educating patients and providers and to incorporate this information to inform health care decision-making. Understanding both patients’ and providers’ perspectives is crucial for effectively translating genomic discoveries into practice and developing effective decision support tools. "
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    ABSTRACT: The strong association between family history and prostate cancer (PCa) suggests a significant genetic contribution, yet specific highly penetrant PCa susceptibility genes have not been identified. Certain single-nucleotide-polymorphisms have been found to correlate with PCa risk; however uncertainty remains regarding their clinical utility and how to best incorporate this information into clinical decision-making. Genetic testing is available directly to consumers and both patients and healthcare providers are becoming more aware of this technology. Purchasing online allows patients to bypass their healthcare provider yet patients may have difficulty interpreting test results and providers may be called upon to interpret results. Determining optimal ways to educate both patients and providers, and strategies for appropriately incorporating this information into clinical decision-making are needed. A mixed-method study was conducted in Utah between October 2011 and December 2011. Eleven focus group discussions were held and surveys were administered to 23 first-degree relatives of PCa patients living in Utah and 24 primary-care physicians and urologists practicing in Utah to present specific information about these assessments and determine knowledge and attitudes regarding health implications of using these assessments. Data was independently coded by two researchers (relative Kappa = .88; provider Kappa = .77) and analyzed using a grounded theory approach. Results indicated differences in attitudes and behavioral intentions between patient and provider. Despite the test's limitations relatives indicated interest in genetic testing (52%) while most providers indicated they would not recommend the test for their patients (79%). Relatives expected providers to interpret genetic test results and use results to provide personalized healthcare recommendations while the majority of providers did not think the information would be useful in patient care (92%) and indicated low-levels of genetic self-efficacy. Although similarities exist, discordance between provider and patient attitudes may influence the effective translation of novel genomic tests into clinical practice suggesting both patient and provider perceptions and expectations be considered in development of clinical decision-support tools.
    BMC Health Services Research 07/2013; 13(1):279. DOI:10.1186/1472-6963-13-279 · 1.71 Impact Factor
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    • "One early study found no association between perceived understanding of genetics and interest in learning about personal genetic risk of cancer from genetic testing (Andrykowski et al. 1996). More recently, in a study with 105 women at increased risk of breast cancer, understanding of test results was not associated with interest in genetic testing overall, but there was an association with willingness to pay for genetic testing: willingness to pay was positively associated with cancer worry and inversely associated with understanding of test results (Graves et al. 2011). The association between interest in personalized genomic information and objective or perceived understanding of genomics warrants further investigation. "
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    ABSTRACT: Patients from traditionally underrepresented communities need to be involved in discussions around genomics research including attitudes towards participation and receiving personal results. Structured interviews, including open-ended and closed-ended questions, were conducted with 205 patients in an inner-city hospital outpatient clinic: 48 % of participants self-identified as Black or African American, 29 % Hispanic, 10 % White; 49 % had an annual household income of <$20,000. When the potential for personal results to be returned was not mentioned, 82 % of participants were willing to participate in genomics research. Reasons for willingness fell into four themes: altruism; benefit to family members; personal health benefit; personal curiosity and improving understanding. Reasons for being unwilling fell into five themes: negative perception of research; not personally relevant; negative feelings about procedures (e.g., blood draws); practical barriers; and fear of results. Participants were more likely to report that they would participate in genomics research if personal results were offered than if they were not offered (89 vs. 62 % respectively, p < 0.001). Participants were more interested in receiving personal genomic risk results for cancer, heart disease and type 2 diabetes than obesity (89, 89, 91, 80 % respectively, all p < 0.001). The only characteristic consistently associated with interest in receiving personal results was disease-specific worry. There was considerable willingness to participate in and desire for personal results from genomics research in this sample of predominantly low-income, Hispanic and African American patients. When returning results is not practical, or even when it is, alternatively or additionally providing generic information about genomics and health may also be a valuable commodity to underrepresented minority and other populations considering participating in genomics research.
    Journal of community genetics 06/2013; 4(4). DOI:10.1007/s12687-013-0154-0
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    • "Those study participants receiving positive feedback anticipated higher-risk perceptions compared to pretest levels; those participants receiving negative feedback anticipated lower-risk perceptions compared to pretest levels as evaluated in aim I. Similarly, as evaluated in aim II, anticipated intentions for protective behaviors (such as use of sunscreen and shade-seeking) and screening (provided by a health-care provider, as well as self-screening) increased more among those who received positive risk feedback, confirming the theoretical connection between increased risk judgments and intentions to self-protect [28]. Recent studies have documented that individuals at moderate cancer risk are not highly sensitive to low-penetrance genetic quantitative risk magnitude and pictorial information [29–31] and that findings regarding whether a test was “positive” or “negative” may be more salient than the exact percentage risk feedback [11]. Indeed, genetic risk feedback necessarily contains two dimensions: first, whether a genetic mutation or risk variant is identified or not; second, what quantitative risk level the genetic mutation or variant confers. "
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    ABSTRACT: Little is known about how individuals might interpret brief genetic risk feedback. We examined interpretation and behavioral intentions (sun protection, skin screening) in melanoma first-degree relatives (FDRs) after exposure to brief prototypic melanoma risk feedback. Using a 3 by 2 experimental pre-post design where feedback type (high-risk mutation, gene environment, and nongenetic) and risk level (positive versus negative findings) were systematically varied, 139 melanoma FDRs were randomized to receive one of the six scenarios. All scenarios included an explicit reminder that melanoma family history increased their risk regardless of their feedback. The findings indicate main effects by risk level but not feedback type; positive findings led to heightened anticipated melanoma risk perceptions and anticipated behavioral intentions. Yet those who received negative findings often discounted their family melanoma history. As such, 25%, 30%, and 32% of those who received negative mutation, gene-environment, and nongenetic feedback, respectively, reported that their risk was similar to the general population. Given the frequency with which those who pursue genetic testing may receive negative feedback, attention is needed to identify ideal strategies to present negative genetic findings in contexts such as direct to consumer channels where extensive genetic counseling is not required.
    Journal of Cancer Epidemiology 07/2012; 2012:374842. DOI:10.1155/2012/374842
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