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对基因咨询后患者不进行BRCA基因检测原因的大型前瞻性分析。

Large, Prospective Analysis of the Reasons Patients Do Not Pursue BRCA Genetic Testing Following Genetic Counseling.

作者信息

Hayden Sommer, Mange Sarah, Duquette Debra, Petrucelli Nancie, Raymond Victoria M

机构信息

Saint Joseph Mercy Hospital, Ann Arbor, MI, USA.

Michigan Department of Health and Human Services, Lansing, MI, USA.

出版信息

J Genet Couns. 2017 Aug;26(4):859-865. doi: 10.1007/s10897-016-0064-5. Epub 2017 Jan 16.

DOI:10.1007/s10897-016-0064-5
PMID:28093663
Abstract

Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT. From 2008 to 2012, 10,726 patients underwent GC; 3476 (32.4%) did not pursue GT. Primary reasons included: not the best test candidate (28.1%), not clinically indicated (23.3%), and insurance/out of pocket cost concerns (13.6%). Patient disinterest was the primary reason for declining in 17.1%. Insurance/out of pocket cost concerns were the primary reason for not testing in 13.4% of untested individuals with private insurance. Among untested individuals with breast and/or ovarian cancer, 22.5% reported insurance/out of pocket cost concerns as the primary reason for not testing and 6.6% failed to meet Medicare criteria. In a five-year time period, nearly one-third of patients who underwent BRCA GC did not pursue GT. GT was not indicated in almost half of patients. Insurance/out of pocket cost concerns continue to be barriers.

摘要

遗传咨询(GC)和基因检测(GT)可识别出能从强化医疗管理中获益的高危个体。并非所有个体在接受遗传咨询后都会进行基因检测,了解其中的原因会影响临床效率,通过恰当识别高危个体降低基因检测成本,并彰显基因检测前遗传咨询的价值。密歇根州卫生与公众服务部发起的一个合作项目前瞻性地收集了密歇根州医疗服务提供者进行的与BRCA相关的遗传咨询就诊的匿名数据,包括人口统计学信息、患者/家族癌症病史、基因检测结果以及拒绝基因检测的原因。2008年至2012年期间,10726名患者接受了遗传咨询;3476名(32.4%)未进行基因检测。主要原因包括:不是最佳检测对象(28.1%)、临床未表明需要检测(23.3%)以及对保险/自付费用的担忧(13.6%)。患者缺乏兴趣是17.1%的人拒绝检测的主要原因。对保险/自付费用的担忧是13.4%拥有私人保险的未检测个体不进行检测的主要原因。在患有乳腺癌和/或卵巢癌的未检测个体中,22.5%报告称对保险/自付费用的担忧是不检测的主要原因,6.6%不符合医疗保险标准。在五年时间里,近三分之一接受BRCA遗传咨询的患者未进行基因检测。几乎一半的患者不需要进行基因检测。对保险/自付费用的担忧仍然是障碍。

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Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010 National Health Interview Surveys.癌症易感性基因检测认知情况:2000年、2005年及2010年国家健康访谈调查
Am J Prev Med. 2014 May;46(5):440-8. doi: 10.1016/j.amepre.2014.01.002.
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Patient perspectives on risk-reducing salpingectomy with delayed oophorectomy for ovarian cancer risk-reduction: A systematic review of the literature.患者对降低卵巢癌风险的预防性输卵管切除术联合延迟卵巢切除术的看法:文献系统评价。
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