Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
BMC Womens Health. 2012 May 8;12:12. doi: 10.1186/1472-6874-12-12.
Current practice for patients with breast cancer referred for genetic counseling, includes face-to-face consultations with a genetic counselor prior to and following DNA-testing. This is based on guidelines regarding Huntington's disease in anticipation of high psychosocial impact of DNA-testing for mutations in BRCA1/2 genes. The initial consultation covers generic information regarding hereditary breast cancer and the (im)possibilities of DNA-testing, prior to such testing. Patients with breast cancer may see this information as irrelevant or unnecessary because individual genetic advice depends on DNA-test results. Also, verbal information is not always remembered well by patients. A different format for this information prior to DNA-testing is possible: replacing initial face-to-face genetic counseling (DNA-intake procedure) by telephone, written and digital information sent to patients' homes (DNA-direct procedure).
METHODS/DESIGN: In this intervention study, 150 patients with breast cancer referred to the department of Clinical Genetics of the Radboud University Nijmegen Medical Centre are given the choice between two procedures, DNA-direct (intervention group) or DNA-intake (usual care, control group). During a triage telephone call, patients are excluded if they have problems with Dutch text, family communication, or of psychological or psychiatric nature. Primary outcome measures are satisfaction and psychological distress. Secondary outcome measures are determinants for the participant's choice of procedure, waiting and processing times, and family characteristics. Data are collected by self-report questionnaires at baseline and following completion of genetic counseling. A minority of participants will receive an invitation for a 30 min semi-structured telephone interview, e.g. confirmed carriers of a BRCA1/2 mutation, and those who report problems with the procedure.
This study compares current practice of an intake consultation (DNA-intake) to a home informational package of telephone, written and digital information (DNA-direct) prior to DNA-testing in patients with breast cancer. The aim is to determine whether DNA-direct is an acceptable procedure for BRCA1/2 testing, in order to provide customized care to patients with breast cancer, cutting down on the period of uncertainty during this diagnostic process.
目前，对于接受遗传咨询的乳腺癌患者，在进行 DNA 检测之前和之后，都需要与遗传咨询师进行面对面的咨询。这是基于亨廷顿病的指南，因为预计 BRCA1/2 基因突变的 DNA 检测会带来较高的心理社会影响。初始咨询涵盖了遗传性乳腺癌的一般信息，以及在进行此类检测之前进行 DNA 检测的（可）能性。乳腺癌患者可能认为这些信息无关或不必要，因为个体遗传咨询取决于 DNA 检测结果。此外，患者并不总是能很好地记住口头信息。在进行 DNA 检测之前，这种信息可以采用不同的形式：用电话代替初始的面对面遗传咨询（DNA 摄入程序），将书面和数字信息发送给患者的家庭（DNA 直接程序）。
方法/设计：在这项干预研究中，向 Radboud 大学尼梅亨医学中心临床遗传学系转诊的 150 名乳腺癌患者提供了两种程序的选择，即 DNA 直接（干预组）或 DNA 摄入（常规护理，对照组）。在分诊电话中，如果患者存在荷兰语文本问题、家庭沟通问题或心理或精神问题，则将其排除在外。主要结局指标是满意度和心理困扰。次要结局指标是参与者选择程序的决定因素、等待和处理时间以及家庭特征。在基线和完成遗传咨询后，通过自我报告问卷收集数据。少数参与者将收到 30 分钟半结构化电话访谈的邀请，例如 BRCA1/2 突变的确诊携带者，以及报告程序问题的参与者。
本研究比较了当前的摄入咨询（DNA 摄入）与乳腺癌患者在 DNA 检测前的电话、书面和数字信息家庭信息包（DNA 直接）的情况。目的是确定 DNA 直接是否是 BRCA1/2 检测的一种可接受程序，以便为乳腺癌患者提供定制化的护理，减少该诊断过程中不确定性的持续时间。
