Article

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 @ georgetown.edu
Public Health Genomics (Impact Factor: 2.46). 04/2011; 14(3):178-89. DOI: 10.1159/000324703
Source: PubMed

ABSTRACT 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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    • "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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