Outcomes of Education and Counseling for HNPCC Testing

HNPCC 测试的教育和咨询成果

• 批准号: 8565517
• 负责人: Laura Koehly
• 金额: $ 4.01万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8565517
• 关键词: Addendum; Affect; Attitude; Behavior; Behavioral; Belief; Benefits and Risks; Biological; Cancer Family; Colon Carcinoma; Communication; Counseling; Data; Data Analyses; Decision Making; Development; Disease; Education; Endometrial Carcinoma; Family; Family Characteristics; Family Relationship; Family member; Frequencies; Gene Mutation; Genetic Counseling; Genetic Risk; Genetic Services; Genetic screening method; Goals; Graph; Hereditary Malignant Neoplasm; Hereditary Neoplastic Syndromes; Hereditary Nonpolyposis Colorectal Neoplasms; Individual; Informed Consent; Inherited; Interview; Knowledge; Learning; Malignant Neoplasms; Manuscripts; Methods; Modeling; Moods; Mutation; Notification; Outcome; Paper; Participant; Personality Traits; Persons; Preparation; Prevention; Process; Protocols documentation; Publishing; Questionnaires; Recommendation; Recruitment Activity; Relative (related person); Risk; Role; Screening for cancer; Screening procedure; Spirituality; Structure; Support System; Surveys; System; Telephone; Telephone Interviews; Test Result; Testing; base; cancer genetics; cancer risk; coping; expectation; experience; follow-up; health belief; improved; interest; member; parent project; psychologic; response; risk perception; social; uptake

This study proposes to identify factors influencing decision-making regarding genetic testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC) and the psychological and behavioral outcomes of the testing process. HNPCC is an inherited form of cancer that predisposes persons in such families to multiple kinds of cancer, most notably colon and endometrial cancer. Biological relatives in families with a known HNPCC mutation complete a baseline questionnaire assessing knowledge, expectations, mood, attitudes, perceived cancer risk, cancer worries, family relationships, spirituality, coping and health beliefs. Participants are then provided with an educational/counseling session focused on HNPCC, the availability of genetic testing, its risks, limitations and potential benefits, and cancer screening recommendations for families with HNPCC. Participants are then presented with a choice of whether or not to undergo genetic testing. Those choosing genetic testing undergo a separate informed consent specifically focused on the process of genetic testing and the potential risks, benefits and limitations of genetic testing. Psychological and behavioral outcomes are reassessed through telephone questionnaire at 6 months, 1 and 3 years following risk notification or the decision not to undergo testing. For those receiving genetic test results, notification occurs in person along with discussion of available surveillance options. Follow-up counseling and support are provided for all individuals participating in the study. To date, 388 individuals have completed baseline questionnaires, 346 individuals have completed 6- month follow-up questionnaires, 331 have completed 1 year questionnaires, and 178 have completed 3 year follow-up surveys. We have initiated an addendum to the parent project that aims to characterize the family communication and support system and how the structure of this system is associated with decisions to undertake testing and cancer screening practices. Family system variables are assessed via a brief telephone interview. Additionally, genetically at risk, but non-participating family members and relatives not at risk for inheriting an HNPCC associated gene mutation will be recruited through their participating relatives, to consider completion of a single, brief questionnaire and the family system interview. The non-participant questionnaire assesses demographic information, attitudes/concerns towards genetic testing, percieved risk of cancer, cancer screening behaviors, and characteristics of family communication about HNPCC. To date, 100 individuals have completed the non-participant survey and 292 have completed the family systems interview. The protocol is now closed to new recruitment, however, the study team will continue follow-up of participating families and analyze data for manuscript development. We continue to learn from these data the role of family context in members adaptation to their risk of cancer. From this project we have published three manuscripts in 2011-2012. These papers, in large part, consider the factors associated with families' communication about their risk of cancer and familial roles in encouraging preventative screening practices for those at increased cancer risk. Additionally, we have three manuscripts that are currently in preparation which aim to understand further the family context associated with improved adaptation to genetic risk of disease.

本研究旨在确定影响遗传性非息肉病性结直肠癌（HNPCC）基因检测决策的因素以及检测过程的心理和行为结果。HNPCC是一种遗传性癌症，使这些家庭中的人容易患多种癌症，最明显的是结肠癌和子宫内膜癌。具有已知HNPCC突变的家庭中的生物亲属完成基线问卷，评估知识，期望，情绪，态度，感知癌症风险，癌症担忧，家庭关系，灵性，应对和健康信念。然后为参与者提供一个教育/咨询会议，重点是HNPCC，基因检测的可用性，其风险，局限性和潜在的好处，以及对HNPCC家庭的癌症筛查建议。然后，参与者可以选择是否接受基因检测。那些选择基因检测的人需要单独的知情同意书，特别关注基因检测的过程以及基因检测的潜在风险、益处和局限性。在风险通知或决定不接受测试后6个月、1年和3年，通过电话问卷重新评估心理和行为结果。对于那些收到基因检测结果，通知发生在人沿着与可用的监视选项的讨论。为所有参与研究的个人提供后续咨询和支持。 到目前为止，388人完成了基线问卷调查，346人完成了6个月的随访问卷调查，331人完成了1年的问卷调查，178人完成了3年的随访调查。 我们已经启动了一个增编的母项目，其目的是表征家庭沟通和支持系统，以及该系统的结构是如何与决策进行测试和癌症筛查的做法。家庭系统变量通过简短的电话访谈进行评估。此外，将通过其参与的亲属招募遗传风险高但未参与的家庭成员和没有遗传HNPCC相关基因突变风险的亲属，以考虑完成单一的简短问卷和家庭系统访谈。非参与者问卷评估人口统计学信息，对基因检测的态度/关注，癌症的感知风险，癌症筛查行为，以及家庭沟通HNPCC的特点。 迄今为止，100人完成了非参与者调查，292人完成了家庭系统访谈。该方案目前已停止招募新的受试者，但是，研究团队将继续对参与研究的家庭进行随访，并分析数据以进行手稿开发。 我们继续从这些数据中了解家庭环境在成员适应癌症风险中的作用。 我们在2011-2012年期间出版了该项目的三份手稿。 这些论文在很大程度上考虑了与家庭对癌症风险的沟通相关的因素，以及家庭在鼓励对癌症风险增加的人进行预防性筛查方面的作用。 此外，我们目前正在准备三份手稿，旨在进一步了解与改善适应疾病遗传风险相关的家庭背景。