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林奇综合征家系中未参与级联遗传检测的家庭成员接受结肠镜检查的情况及其影响因素。

Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome.

机构信息

Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Bldg. 35, Room 1B205, Bethesda, MD, 20892-3717, USA.

Social Networks Methods Section, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

Sci Rep. 2020 Sep 29;10(1):15959. doi: 10.1038/s41598-020-72938-z.

Abstract

Cascade genetic testing provides a method to appropriately focus colonoscopy use in families with Lynch syndrome (LS). However, research suggests that up to two-thirds at risk to inherit LS don't participate. Within the United States, no studies have assessed colonoscopy use within this elusive and high-risk subset. We set forth to (1) document colonoscopy use within those not undergoing genetic testing (NGT) and (2) identify factors associated with completing colonoscopy. Data came from a cross sectional survey of families with molecularly confirmed LS. One hundred seventy-six (176) adults participated; 47 of unknown variant status and 129 with variant status known (59 carriers/70 non-carriers). Despite a high level of awareness of LS (85%) and identical recommendations for colonoscopy, NGT reported significantly lower use of colonoscopy than carriers (47% vs. 73%; p = 0.003). Our results show that perceived risk to develop colon cancer (AOR = 1.99, p < 0.05) and physician recommendations (AOR = 7.64, p < 0.01) are significant predictors of colonoscopy use across all family members controlling for carrier status. Given these findings, health care providers, should assess patients' perceived risk to develop cancer, assist them in adjusting risk perceptions and discuss recommendations for colonoscopy with all members in families with LS.Trial Registration Clinical Trials.gov Identifier: NCT00004210.

摘要

级联基因检测为林奇综合征(LS)家族提供了一种适当集中结肠镜使用的方法。然而,研究表明,多达三分之二有 LS 遗传风险的人没有参与。在美国,没有研究评估过这个难以捉摸且高风险亚组中的结肠镜使用情况。我们着手(1)记录未接受基因检测(NGT)者的结肠镜使用情况,(2)确定与完成结肠镜检查相关的因素。数据来自对分子确诊 LS 家族的横断面调查。有 176 名成年人参与;47 名未知变异状态,129 名已知变异状态(59 名携带者/70 名非携带者)。尽管对 LS 的认识水平很高(85%),且对结肠镜检查的建议相同,但 NGT 报告的结肠镜使用明显低于携带者(47%对 73%;p=0.003)。我们的研究结果表明,对患结肠癌的感知风险(AOR=1.99,p<0.05)和医生的建议(AOR=7.64,p<0.01)是所有家庭成员进行结肠镜检查使用的重要预测因素,控制了携带者状态。鉴于这些发现,医疗保健提供者应评估患者患癌症的感知风险,帮助他们调整风险认知,并与 LS 家族的所有成员讨论结肠镜检查的建议。

试验注册

ClinicalTrials.gov 标识符:NCT00004210。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/603a/7525436/9156191c38e4/41598_2020_72938_Fig1_HTML.jpg

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