Outcomes of Education and Counseling for HNPCC Testing

HNPCC 测试的教育和咨询成果

• 批准号: 8750656
• 负责人: Laura Koehly
• 金额: $ 15.05万
• 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/8750656
• 关键词: Addendum; Affect; Attitude; Behavior; Behavioral; Benefits and Risks; Biological; Cancer Family; Colon Carcinoma; Communication; Counseling; Data; Data Analyses; 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; Health behavior; 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; Personal Satisfaction; Persons; Play; Preparation; Prevention; Preventive; Process; Protocols documentation; Psychological adjustment; Publishing; Questionnaires; Recommendation; Recruitment Activity; Relative (related person); Religion and Spirituality; Risk; Role; Screening for cancer; Spirituality; Structure; Support System; Surveys; System; Telephone; Telephone Interviews; Test Result; Testing; Validity and Reliability; base; cancer genetics; cancer risk; coping; expectation; experience; follow-up; health belief; improved; indexing; member; parent project; psychologic; psychosocial; response; risk perception; screening; social

The primary goals of this project are to identify factors associated with psychosocial functioning and health behaviors following genetic counseling and testing for a hereditary cancer syndrome known as Hereditary Non-polyposis Colorectal Cancer (HNPCC). HNPCC is an inherited form of cancer that predisposes persons in affected families to multiple kinds of cancer, most notably colon and endometrial cancer. Biological relatives in families with a known HNPCC mutation completed a baseline questionnaire assessing knowledge, expectations, mood, attitudes, perceived cancer risk, cancer worries, family relationships, spirituality, coping and health beliefs. Participants were 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 were then presented with a choice of whether or not to undergo genetic testing. Those choosing genetic testing underwent 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 were 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 occurred 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 completed baseline questionnaires, 346 individuals completed 6- month follow-up questionnaires, 331 completed 1 year questionnaires, and 178 completed 3 year follow-up surveys. We 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 systems variables were 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 assessed demographic information, attitudes/concerns towards genetic testing, perceived risk of cancer, cancer screening behaviors, and characteristics of family communication about HNPCC. 100 individuals completed the non-participant survey and 292 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 one manuscript in 2012-2013. This paper considers the role of religious and existential well-being on preventive health behaviors, psychological adjustment, and family communication about risk. Additionally, we have one manuscript that is current under review. This manuscript concludes that the psychological and behavioral impact of genetic testing depends not only on an individuals personal test results, but also on family members test results; thus, the family context plays an essential role to adaptation processes. We have three manuscripts currently in preparation which aim to understand further the family context associated with improved adaptation to genetic risk of disease. Finally, we have been developing methods for imputing missing data within the family network data and for constructing indices of reliability and validity for multi-relational, network data.

该项目的主要目标是在遗传咨询和遗传性癌症综合征测试后，确定与心理社会功能和健康行为相关的因素，称为遗传性非poly型近直肠癌（HNPCC）。 HNPCC是一种遗传的癌症形式，使受影响家庭中的人容易患多种癌症，最著名的是结肠和子宫内膜癌。 具有已知HNPCC突变家庭的家庭亲戚完成了一份基线问卷，评估了知识，期望，情绪，态度，癌症风险，癌症的忧虑，家庭关系，灵性，应对和健康信念。然后，向参与者举行了针对HNPCC的教育/咨询课程，基因检测的可用性，其风险，局限性和潜在收益以及针对HNPCC家庭的癌症筛查建议。然后，向参与者提供了是否接受基因检测的选择。那些选择基因检测的人接受了单独的知情同意，专门针对基因检测过程以及基因检测的潜在风险，益处和局限性。风险通知或决定不接受测试后的6个月，1和3年，通过电话问卷重新评估了心理和行为结果。对于那些接受遗传测试结果的人，亲自发生了通知，并讨论了可用的监视选项。为所有参加研究的人提供后续咨询和支持。 迄今为止，388个人填写了基线问卷，346个人完成了6个月的随访问卷，331个完成了1年的问卷，而178个完成了3年的随访调查。 我们启动了父母项目的附录，旨在表征家庭沟通和支持系统，以及该系统的结构如何与进行测试和癌症筛查实践的决策相关联。家庭系统变量通过简短的电话采访评估。此外，在遗传上处于危险中，但是将通过其参与亲戚招募非参与的家庭成员和没有遗传HNPCC相关基因突变的风险，以考虑完成一份单一的，简短的问卷和家庭系统访谈。非参与者问卷评估了人口统计信息，对基因检测的态度/关注，感知到癌症的风险，癌症筛查行为以及有关HNPCC家庭沟通的特征。 100个人完成了非参与者调查，292人完成了家庭系统访谈。该协议现已不接受新的招聘，但是，研究团队将继续对参与家庭进行后续行动，并分析数据以进行手稿开发。 我们继续从这些数据中学到家庭环境在适应其癌症风险的成员中的作用。 从这个项目中，我们在2012 - 2013年发表了一份手稿。 本文考虑了宗教和生存福祉在预防健康行为，心理调整以及有关风险的家庭沟通方面的作用。 此外，我们还有一个正在审查的手稿。 该手稿得出结论，基因检测的心理和行为影响不仅取决于个人的个人测试结果，还取决于家庭成员的测试结果。因此，家庭环境在适应过程中起着至关重要的作用。 我们目前正在准备三个手稿，旨在进一步了解与改善疾病遗传风险的改善有关的家庭环境。 最后，我们一直在开发用于在家庭网络数据中推出丢失数据的方法，并为多关系网络数据构建可靠性和有效性索引。