Graves K D, Peshkin B N, Luta G, Tuong W, Schwartz M D
Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20007, USA. kdg9 @ georgetown.edu
Public Health Genomics. 2011;14(3):178-89. doi: 10.1159/000324703. Epub 2011 Apr 2.
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.
基因组学的进展最终可能会带来“个性化基因医学”，然而，针对风险适度变化的预测性检测的临床效用尚不清楚。我们探讨了中度至高度乳腺癌风险女性对与乳腺癌风险适度变化相关基因的基因检测的兴趣。
对105名乳腺活检结果为阴性且有≥1名患乳腺癌或卵巢癌亲属的女性进行电话调查。我们测量了人口统计学和心理社会变量，并在呈现低 penetrance 乳腺癌基因突变基因检测的假设情景后，评估了对支付意愿和检测结果理解的兴趣。我们使用带有广义估计方程的逻辑回归模型来评估风险水平、成本和行为调节因素的组合。
许多女性（77%）表示对基因检测“肯定”感兴趣，对传达更多风险且成本更低的检测更感兴趣。风险的行为调节因素（服用维生素；饮食/运动）、有固定的医生、对基因检测的更大感知益处以及更大的癌症担忧也影响了兴趣。大多数参与者（63%）不理解相对风险与绝对风险。理解较少的女性报告有更多的癌症担忧和更高的检测支付意愿。
对与风险适度变化相关的基因突变的基因检测兴趣很高，受检测和心理社会因素的影响。研究结果强调了对传达风险适度变化的基因突变检测的益处和风险进行教育的必要性，特别是考虑到目前缺乏临床有效性/效用以及直接面向消费者的基因检测的可用性。
