Chadwell Sarah E, He Hua, Knapke Sara, Lewis Jaime, Sisson Rebecca, Hopper Jennifer
Genetic Counseling Program, College of Medicine, University of Cincinnati and Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue ML 4006, Cincinnati, OH, 45229, USA.
Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.
J Genet Couns. 2018 Sep;27(5):1210-1219. doi: 10.1007/s10897-018-0241-9. Epub 2018 Mar 17.
Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned. Of those participants who were planning to return to clinic, most cited having family members who could benefit from the test result as the primary motivation to return. Many participants who were not planning to return to clinic cited the cost of testing as a barrier to return. Cost of testing and concerns about insurance coverage were the most commonly cited barriers for the group of participants who were undecided about returning to clinic. Results from this study may be used to guide re-contact efforts by clinicians to increase patient uptake to return to clinic for up-to-date genetic risk assessment, counseling, and testing.
近年来,随着多基因检测面板的出现以及BRCA基因缺失和重复分析的增加,遗传性癌症风险的基因检测有了改进。本研究的主要目的是确定哪些因素会影响有乳腺癌和/或卵巢癌个人病史且BRCA1和BRCA2检测结果为阴性或不确定的个体返回遗传性癌症项目进行进一步基因风险评估、咨询和检测的意愿。向1197名个体发送了调查问卷,收回257份。在那些计划返回诊所的参与者中,大多数人表示让家庭成员能从检测结果中受益是返回的主要动机。许多不打算返回诊所的参与者表示检测费用是返回的障碍。检测费用和对保险覆盖范围的担忧是那些对是否返回诊所犹豫不决的参与者最常提到的障碍。本研究结果可用于指导临床医生的再次联系工作,以提高患者返回诊所进行最新基因风险评估、咨询和检测的意愿。