结肠腺瘤性息肉病患者接受遗传咨询及基因检测的意愿调查

Investigation on the willingness of patients with colonic adenomatous polyposis to receive genetic counseling and genetic testing

背景家系调查和遗传咨询对于结肠腺瘤性息肉病患者的病情监测是非常重要的,但这项工作在我国尚未良好开展,重要的原因在于患者对于其意义缺乏了解。方法我们开展了一项横断面调查来研究结肠腺瘤性息肉病患者接受遗传咨询和基因检测的意愿,收集并分析了受访者的一般信息及临床信息。结果此项调查共发放问卷101份,回收有效问卷89份。受访者接受遗传咨询的最常见目的是了解癌症风险(43.8%),其次是进行基因检测咨询(29.2%)和生育咨询(21.3%)。高达66.3%的受访者尚未决定选择何种生育方式。72名(80.9%)受访者已经接受或计划接受结肠腺瘤性息肉病相关的基因检测,主要目的是寻找致病基因。62名(69.7%)受访者已经育有子女,其中38名受访者已经让子女接受基因检测或计划让子女接受基因检测,主要目的是预测子女是否会发病;导致受访者拒绝让其子女接受基因检测的主要因素是对检测结果恐惧。结论结肠腺瘤性息肉病患者对遗传咨询和基因检测的认识存在很大的局限性,向这类患者普及相关知识是十分必要和亟需完成的,这有助于其在疾病评估、疾病预测和制定生育计划方面获得更多的帮助并取得更好的效果。

Background Family investigation and genetic counseling are crucial for disease monitoring in patients with colonic adenomatous polyposis.However,this work has not been well-executed in China,primarily due to patient’s lack of understand⁃ing of its significance.Methods A cross-sectional survey was conducted to investigate the willingness of patients with colonic adenomatous polyposis to undergo genetic counseling and genetic testing.General information and clinical data were collected and analyzed.Results A total of 101 questionnaires were sent out and 89 valid questionnaires were collected.The most common rea⁃son respondents sought genetic counseling was to learn about cancer risk(43.8%),followed by genetic testing counseling(29.2%)and reproductive counseling(21.3%).A significant 66.3%of respondents had not yet decided on their preferred method of child⁃birth.Seventy-two respondents(80.9%)had undergone or planned to undergo genetic testing for colonic adenomatous polyposis,with the primary objective of identifying pathogenic genes.Sixty-two respondents(69.7%)already had children,of which 38 re⁃spondents had either their children undergo genetic testing or planned to do so,mainly to predict whether their children would develop diseases;The primary factor that led respondents to refuse testing for their children was fear of the results.Conclusion Patients with colonic adenomatous polyposis have a limited understanding of genetic counseling and genetic testing.It is neces⁃sary and urgent to disseminate relevant knowledge to these patients,which can assist them in obtaining more help in disease as⁃sessment,prediction,and family planning,ultimately leading to better outcomes.