Epidemiology and Applied Research Branch, Division of Cancer Prevention and Control, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Centers for Disease Control and Prevention, NCCDPHP/DCPC, 4770 Buford Hwy., NE, Mailstop S107-4, Chamblee, GA, USA.
Breast Cancer Res Treat. 2024 Nov;208(1):19-27. doi: 10.1007/s10549-024-07377-9. Epub 2024 Jul 24.
Research has shown that cancer genetic risk is often not well understood by patients undergoing genetic testing and counseling. We describe the barriers to understanding genetic risk and the needs of high-risk persons and cancer survivors who have undergone genetic testing.
Using data from an internet survey of adults living in the USA who responded 'yes' to having ever had a genetic test to determine cancer risk (N = 696), we conducted bivariate analyses and multivariable logistic regression models to evaluate associations between demographic, clinical, and communication-related variables by our key outcome of having vs. not having enough information about genetics and cancer to speak with family. Percentages for yes and no responses to queries about unmet informational needs were calculated. Patient satisfaction with counseling and percentage disclosure of genetic risk status to family were also calculated.
We found that a lack of resources provided by provider to inform family members and a lack of materials provided along with genetic test results were strongly associated with not having enough information about genetics and cancer (OR 4.54 95% CI 2.40-8.59 and OR 2.19 95% CI 1.16-4.14 respectively). Among participants undergoing genetic counseling, almost half reported needing more information on what genetic risk means for them and their family and how genetic testing results might impact future screening.
High levels of satisfaction with genetic counseling may not give a full picture of the patient-provider interaction and may miss potential unmet needs of the patient. Accessible resources and ongoing opportunities for updating family history information could reinforce knowledge about genetic risk.
研究表明，接受基因检测和咨询的患者往往对癌症遗传风险了解不足。我们描述了理解遗传风险的障碍，以及接受过基因检测的高风险人群和癌症幸存者的需求。
我们利用来自美国成年人互联网调查的数据，这些成年人回答“是”曾接受过基因检测以确定癌症风险（N=696），我们进行了双变量分析和多变量逻辑回归模型，以评估人口统计学、临床和沟通相关变量与我们的关键结果之间的关联，即是否有足够的关于遗传学和癌症的信息与家人交流。计算了对未满足信息需求的查询的是/否回答的百分比。还计算了患者对咨询的满意度和遗传风险状况向家人披露的百分比。
我们发现，提供者提供的告知家庭成员的资源不足以及与基因检测结果一起提供的材料不足与缺乏关于遗传学和癌症的足够信息密切相关（OR 4.54，95%CI 2.40-8.59和 OR 2.19，95%CI 1.16-4.14）。在接受基因咨询的参与者中，近一半人报告说需要更多关于遗传风险对他们及其家人意味着什么以及基因检测结果如何影响未来筛查的信息。
对遗传咨询的高度满意度可能无法全面反映医患互动情况，并且可能会错过患者的潜在未满足需求。可获得的资源和更新家族史信息的机会可以增强对遗传风险的了解。
