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确定与心理社会功能和健康行为相关的因素，这些因素与遗传性非息肉病性结直肠癌（HNPCC）遗传性癌症综合征的遗传咨询和检测有关。 HNPCC是一种遗传性癌症，使受影响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了基线问卷，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，为参与者提供了一个教育/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的人，通知是亲自沿着进行的，并讨论了可用的监测方案。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。 我们发起了一个增编的母项目，旨在表征家庭沟通和支持系统，以及如何结构的这个系统是与决定进行测试和癌症筛查的做法。家庭系统变量进行了评估，通过简短的电话采访。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，以及家庭沟通的HNPCC的特点。 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2012-2013年出版了该项目的一份手稿。 本文探讨宗教与存在幸福感对预防性健康行为、心理调适与家庭风险沟通的影响。 此外，我们有一份手稿目前正在审查中。 本文的结论是，基因检测对心理和行为的影响不仅取决于个人的个人检测结果，还取决于家庭成员的检测结果;因此，家庭背景对适应过程起着至关重要的作用。 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。 最后，我们一直在开发方法，填补家庭网络数据中的缺失数据，并为多关系网络数据构建可靠性和有效性指标。