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Genetic Testing for Inflammatory Bowel Disease: Focus Group Analysis of Patients and Family Members

机译：炎症性肠病的基因检测:焦点小组分析的患者和家人成员

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Inflammatory bowel disease (IBD) is a chronic gastrointestinal illness with complex genetic un-derpinnings. Genetic testing for IBD, in particular, for high-risk alleles, is not currently used in clinical practice. Further, preferences and concerns of patients and their family members regarding a genetic test for this condition are not well studied. Methods: Thirty IBD patients and eighteen unaffected first-degree family members or spouses listened to a general educational session about IBD and then participated in one of eight focus groups in order to identify themes of concern and interest regarding a genetic test for IBD. Participants also completed demographic, attitude, and knowledge surveys prior to the focus group sessions. Qualitative analysis of tran-scripts was performed, and simple comparative statistics of survey data were calculated. Results: There were few differences between the responses of patients and unaffected family members. Participants were interested in undergoing genetic testing for IBD despite the fact that information at this time cannot be clinically applied in the diagnosis, prognosis, or treatment of the disease. Advantages of genetic testing commonly identified included benefit to themselves and family members through the possibility of earlier diagnosis and targeted therapies. Disadvantages commonly cited were discrimination by insurance companies and employers and concerns about protection of information. In general, participants were interested in receiving both pre- and posttest information from an informed gastroenterologist, which included a clear basis for testing and the implications of the results for themselves and for family members. Conclusions: The results of the first focus group assessment about genetic testing for IBD reveal themes that are similar in interests and concerns to other genetic diseases. These findings will aid in the construction of patient-centered models of genetic testing that emphasize patient education and interpretation of results.
机译：炎症性肠病(IBD)是一种慢性的胃肠道疾病与复杂的基因un-derpinnings。特别对于高风险的等位基因,则不是目前用于临床实践。病人和他们的偏好和关注的问题家庭成员有关的基因测试条件不充分的研究。IBD患者和18个一级的影响家庭成员或配偶听一位将军教育对IBD然后会话参加了八个焦点小组之一为了确定主题的关注和兴趣对炎症性肠病的基因测试。还完成了人口、态度和知识调查焦点小组前会话。执行,简单比较统计数据调查数据的计算。没有差异的反应吗病人和家庭成员的影响。参与者经历感兴趣基因检测IBD尽管信息在这个时候不能临床应用于诊断、预后或治疗的疾病。通常确定包括好处自己和家庭成员通过早期诊断和有针对性的可能性疗法。保险公司和歧视雇主和保护的担忧信息。感兴趣的接收前置和期末测验信息从一个消息灵通的胃肠病学家,其中包括一个明确的基础测试和为自己和影响的结果为家庭成员。第一个焦点小组评估基因检测IBD揭示相似的主题利益和关切到其他遗传疾病。这些发现将有助于建设以病人为中心的模型的基因测试强调病人教育和解释结果。

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