Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Washington University School of Medicine and Siteman Cancer Center, St Louis, MO, USA.
Int J Gynecol Cancer. 2013 Jul;23(6):1016-21. doi: 10.1097/IGC.0b013e3182994365.
The objective of this study was to assess patients' preferences of the timing of referral for genetic counseling and testing in relation to the diagnosis, treatment, and recurrence of ovarian, tubal, or primary peritoneal cancers.
Ninety-two patients who underwent counseling and testing by 1 certified genetic counselor were identified. An introductory letter, consent form, and questionnaire were mailed to gather information regarding factors influencing the decision to undergo genetic counseling and testing and opinions regarding optimal timing. Medical records were reviewed for demographic and clinical data.
Of 47 consenting women, 45 underwent testing. Eight (18%) were found to have a genetic mutation. Women lacked consensus about the optimal time for referral for and to undergo genetic testing, although women with stage I disease preferred testing after completion of chemotherapy. Most women were comfortable receiving the results by phone, but one third preferred an office visit.
Patients' views regarding the best time to be referred for and undergo counseling and testing varied greatly. Because of the high mortality of this disease, clinicians should discuss referral early and personalize the timing to each patient. The subset of patients who prefer results disclosure during an office visit should be identified at the time of their initial counseling.
本研究旨在评估患者对遗传咨询和检测时机的偏好，这些时机与卵巢癌、输卵管癌或原发性腹膜癌的诊断、治疗和复发有关。
鉴定了 92 名由 1 名认证遗传咨询师进行咨询和检测的患者。邮寄了一封介绍信、同意书和问卷，以收集有关影响决定进行遗传咨询和检测的因素以及对最佳时机的意见的信息。审查了病历以获取人口统计学和临床数据。
在 47 位同意的女性中，有 45 位接受了检测。有 8 名（18%）发现存在基因突变。尽管患有 I 期疾病的女性希望在完成化疗后进行检测，但她们对遗传检测的最佳推荐和进行时机没有达成共识。大多数女性都愿意通过电话接收结果，但三分之一的人更喜欢门诊就诊。
患者对最佳推荐和进行咨询和检测的最佳时间的看法差异很大。由于这种疾病的死亡率很高，临床医生应尽早讨论转诊事宜，并根据每位患者的情况确定具体的时间。在最初咨询时，应确定那些希望在门诊就诊时获得结果披露的患者。
