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文章:

临床医生对遗传性癌症风险增高参与者进行遗传基因检测的建议

Clinician Recommendation for Hereditary Genetic Testing in Participants at Increased Risk for Hereditary Cancer

原文发布日期:14 June 2025

DOI: 10.3390/cancers17121994

类型: Article

开放获取: 是

 

英文摘要:

Background:Despite clinical utility in managing hereditary cancers, genetic testing (GT) remains underutilized. While barriers include knowledge gaps and cost, clinician recommendation is a major driver of GT uptake, with rates varying by cancer type and family cancer history documentation.Methods:Adult participants (≥18 years) were recruited through multiple sources to complete a cancer family history survey for a larger intervention trial. Participants with personal or family history indicating increased hereditary cancer risk who had not undergone GT (N = 3001) were invited to complete a baseline survey. Multivariable logistic regression was used to analyze associations between demographics and cancer history by receipt of a clinician recommendation for GT.Results:Among 784 respondents, most were White (84.6%), female (58.4%), and over age 51 (75.3%), with 58.2% reporting a diagnosis of cancer. Only 14.0% reported receiving a clinician recommendation for GT, with lower recommendation rates among younger adults (20.1%), those reporting no financial stress (10.7%), and those with higher education (12.0%). Multivariate analysis showed participants who did not report financial stress (p= 0.049) were less likely to receive a recommendation.Discussion:These findings highlight disparities in GT recommendation by clinicians. Increased clinician education about indications for GT, the implementation of electronic medical record tools to facilitate the identification of patients with guideline-concordant personal and/or biological-relative cancer history, and patient-facing interventions could standardize the dissemination of recommendations for GT.Conclusions:Future efforts that focus on increasing clinician education and electronic decision support should identify individuals with personal and/or biological-relative cancer history meeting criteria for GT.

 

摘要翻译: 

背景:尽管基因检测在遗传性癌症管理中具有临床价值,但其应用仍显不足。虽然知识缺口和成本构成障碍,但临床医生的推荐是推动基因检测采纳的主要因素,其推荐率因癌症类型和家族癌症史记录而异。 方法:通过多种渠道招募成年参与者(≥18岁),完成一项更大规模干预试验的癌症家族史调查。对具有个人或家族史提示遗传性癌症风险增加且未接受过基因检测的参与者(N=3001)发出邀请,完成基线调查。采用多变量逻辑回归分析人口统计学特征和癌症史与临床医生推荐基因检测之间的关联。 结果:在784名受访者中,大多数为白人(84.6%)、女性(58.4%)、年龄超过51岁(75.3%),其中58.2%报告有癌症诊断。仅14.0%的受访者表示曾获得临床医生的基因检测推荐,推荐率在年轻成年人(20.1%)、无经济压力者(10.7%)及高学历人群(12.0%)中较低。多变量分析显示,未报告经济压力的参与者(p=0.049)获得推荐的可能性更低。 讨论:这些发现揭示了临床医生在基因检测推荐方面存在差异。加强临床医生对基因检测适应症的教育,实施电子病历工具以促进识别符合指南的个人和/或生物学亲属癌症史患者,以及面向患者的干预措施,可标准化基因检测推荐的传播。 结论:未来应着力加强临床医生教育和电子决策支持,以识别符合基因检测标准的个人和/或生物学亲属癌症史个体。

 

 

原文链接:

Clinician Recommendation for Hereditary Genetic Testing in Participants at Increased Risk for Hereditary Cancer

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