Allen Caitlin G, Roberts Megan, Guan Yue
Rollins School of Public Health, Emory University, 1518 Clifton Road NE, Atlanta, GA 30307, USA.
Division of Cancer Control and Population Sciences, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20850, USA.
J Pers Med. 2019 May 10;9(2):26. doi: 10.3390/jpm9020026.
Despite efforts to increase the availability of clinical genetic testing and counseling for Hereditary Breast and Ovarian (HBOC)-related cancers, these services remain underutilized in clinical settings. There have been few efforts to understand the public's use of cancer genetic services, particularly for HBOC-related cancers. This analysis is based on data from the 2015 National Health Interview Survey (NHIS), a U.S.-based nationwide probability sample, to better understand the public's use of HBOC-related clinical cancer genetic services. Bivariate analyses were used to compute percentages and examine the associations of familial cancer risk for three genetic services outcomes (ever had genetic counseling for cancer risk, ever discussed genetic testing for cancer risk with a provider, and ever had genetic testing for cancer risk). Multivariable logistic regression models were used to estimate the association of familial cancer risk and other demographic and health variables with genetic services. Most women (87.67%) in this study were at low risk based on self-reported family history of breast and ovarian cancer, 10.65% were at medium risk, and 1.68% were at high risk. Overall, very small numbers of individuals had ever had genetic counseling (2.78%), discussed genetic testing with their physician (4.55%) or had genetic testing (1.64%). Across all genetic services outcomes, individuals who were at higher familial risk were more likely to have had genetic counseling than those at lower risk (high risk: aOR = 5.869, 95% CI = 2.911-11.835; medium risk: aOR = 4.121, 95% CI = 2.934-5.789), discussed genetic testing (high risk: aOR = 5.133, 95% CI = 2.699-9.764; medium risk: aOR = 3.649, 95% CI = 2.696-4.938), and completed genetic testing (high risk: aOR = 8.531, 95% CI = 3.666-19.851; medium risk aOR = 3.057, 95% CI = 1.835-5.094). Those who perceived themselves as being more likely to develop cancer than the average woman were more likely to engage in genetic counseling (aOR = 1.916, 95% CI = 1.334-2.752), discuss genetic testing (aOR = 3.314, 95% CI = 2.463-4.459) or have had genetic testing (aOR = 1.947, 95% CI = 1.13-3.54). Personal cancer history was also a significant predictor of likelihood to have engaged in genetic services. Our findings highlight: (1) potential under-utilization of cancer genetic services among high risk populations in the U.S. and (2) differences in genetic services use based on individual's characteristics such as self-reported familial risk, personal history, and beliefs about risk of cancer. These results align with other studies which have noted that awareness and use of genetic services are low in the general population and likely not reaching individuals who could benefit most from screening for inherited cancers. Efforts to promote public awareness of familial cancer risk may lead to better uptake of cancer genetic services.
尽管人们努力提高遗传性乳腺癌和卵巢癌（HBOC）相关癌症的临床基因检测及咨询服务的可及性，但这些服务在临床环境中的利用率仍然较低。很少有人致力于了解公众对癌症基因服务的使用情况，特别是针对HBOC相关癌症的服务。本分析基于2015年美国国家健康访谈调查（NHIS）的数据，这是一个基于美国的全国性概率样本，旨在更好地了解公众对HBOC相关临床癌症基因服务的使用情况。采用双变量分析来计算百分比，并检验三种基因服务结果（曾因癌症风险接受过基因咨询、曾与医疗服务提供者讨论过癌症风险的基因检测、曾接受过癌症风险的基因检测）的家族性癌症风险的相关性。多变量逻辑回归模型用于估计家族性癌症风险以及其他人口统计学和健康变量与基因服务之间的关联。基于自我报告的乳腺癌和卵巢癌家族史，本研究中的大多数女性（87.67%）处于低风险，10.65%处于中等风险，1.68%处于高风险。总体而言，很少有人曾接受过基因咨询（2.78%）、与医生讨论过基因检测（4.55%）或接受过基因检测（1.64%）。在所有基因服务结果中，家族风险较高的个体比风险较低的个体更有可能接受基因咨询（高风险：校正后比值比[aOR]=5.869，95%置信区间[CI]=2.911-11.835；中等风险：aOR=4.121，95%CI=2.934-5.789）、讨论基因检测（高风险：aOR=5.133，95%CI=2.699-9.764；中等风险：aOR=3.649，95%CI=2.696-4.938）以及完成基因检测（高风险：aOR=8.531，95%CI=3.666-19.851；中等风险aOR=3.057，95%CI=1.835-5.094）。那些认为自己比普通女性更有可能患癌症的人更有可能接受基因咨询（aOR=1.916，95%CI=1.334-2.752）、讨论基因检测（aOR=3.314，95%CI=2.463-4.459）或接受过基因检测（aOR=1.947，95%CI=1.13-3.54）。个人癌症史也是参与基因服务可能性的一个重要预测因素。我们的研究结果突出表明：（1）美国高风险人群中癌症基因服务可能未得到充分利用；（2）基于个体特征（如自我报告的家族风险、个人病史以及对癌症风险的信念），基因服务的使用存在差异。这些结果与其他研究一致，其他研究指出普通人群对基因服务的知晓度和使用率较低，可能无法惠及那些最能从遗传性癌症筛查中获益的个体。提高公众对家族性癌症风险的认识的努力可能会导致癌症基因服务的更好利用。
