Vicuña Belinda, Delaney Harold D, Flores Kristina G, Ballinger Lori, Royce Melanie, Dayao Zoneddy, Pal Tuya, Kinney Anita Y
Cancer Research Facility, University of New Mexico Comprehensive Cancer Center, University of New Mexico, MSC 07 4025, Albuquerque, NM, 87125, USA.
Department of Psychology, University of New Mexico, Albuquerque, NM, USA.
J Community Genet. 2018 Jan;9(1):81-92. doi: 10.1007/s12687-017-0322-8. Epub 2017 Oct 2.
Until recently, genetic testing for hereditary breast cancer has primarily focused on pathogenic variants in the BRCA1 and BRCA2 (BRCA) genes. However, advances in DNA sequencing technologies have made simultaneous testing for multiple genes possible. We examined correlates of interest in multigene panel testing and risk communication preferences in an ethnically diverse sample of women who tested negative for BRCA mutations previously but remain at high risk based on their family history (referred to as "BRCA-uninformative") and their at-risk female family members. Two-hundred and thirteen women with a previous breast cancer diagnosis and a BRCA-uninformative test result and their first-degree relatives completed a survey on interest in multigene panel testing, communication preferences, and sociodemographic, psychological, and clinical factors. Stepwise logistic regression was used to identify factors associated with testing interest. Chi-square analyses were used to test differences in risk communication preferences. Interest in multigene panel testing was high (84%) and did not considerably differ by cancer status or ethnicity. In multivariable analysis, factors significantly associated with interest in genetic testing were having had a mammogram in the past 2 years (odds ratio (OR) = 4.04, 95% confidence interval (CI) 1.80-9.02) and high cancer worry (OR = 3.77, 95% CI 1.34-10.60). Overall, the most commonly preferred genetic communication modes were genetic counselors, oncologists, and print materials. However, non-Hispanic women were more likely than Hispanic women to prefer web-based risk communication (p < 0.001). Hispanic and non-Hispanic women from BRCA-uninformative families have a high level of interest in gene panel testing. Cancer-related emotions and communication preferences should be considered in developing targeted genetic risk communication strategies.
直到最近，遗传性乳腺癌的基因检测主要集中在BRCA1和BRCA2（BRCA）基因的致病变异上。然而，DNA测序技术的进步使得同时检测多个基因成为可能。我们在一个种族多样化的女性样本中，研究了对多基因检测的兴趣相关性以及风险沟通偏好。这些女性之前BRCA突变检测为阴性，但根据家族史仍处于高风险（称为“BRCA无信息”），以及她们的高危女性家庭成员。213名曾被诊断为乳腺癌且BRCA检测无信息的女性及其一级亲属完成了一项关于多基因检测兴趣、沟通偏好以及社会人口学、心理和临床因素的调查。采用逐步逻辑回归来确定与检测兴趣相关的因素。使用卡方分析来检验风险沟通偏好的差异。对多基因检测的兴趣很高（84%），且在癌症状态或种族方面没有显著差异。在多变量分析中，与基因检测兴趣显著相关的因素是在过去2年进行过乳房X光检查（优势比（OR）=4.04，95%置信区间（CI）1.80 - 9.02）和高癌症担忧程度（OR = 3.77，95% CI 1.34 - 10.60）。总体而言，最常偏好的基因沟通方式是遗传咨询师、肿瘤学家和印刷材料。然而，非西班牙裔女性比西班牙裔女性更倾向于基于网络的风险沟通（p < 0.001）。来自BRCA无信息家庭的西班牙裔和非西班牙裔女性对基因检测有很高的兴趣。在制定有针对性的遗传风险沟通策略时，应考虑与癌症相关的情绪和沟通偏好。
