Amendola Laura M, Hart M Ragan, Bennett Robin L, Horike-Pyne Martha, Dorschner Michael, Shirts Brian, Jarvik Gail P
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Department of Pathology, University of Washington, Seattle, WA, USA.
J Genet Couns. 2019 Dec;28(6):1208-1213. doi: 10.1002/jgc4.1155. Epub 2019 Jul 17.
In this work, we explore the results of germline cancer genetic tests in individuals whose insurance would not cover this testing. We enrolled 31 patients with a personal history of cancer whose health insurer denied coverage for a clinical germline cancer panel genetic test recommended by a medical genetics provider into a study providing exome sequencing and return of cancer-related results. Five participants (16%) had a pathogenic variant identified related to increased cancer risk. Three participants (10%) had a variant of uncertain significance (VUS) in a gene related to their cancer history. These rates are not significantly different than the 12% rate of pathogenic or likely pathogenic (P/LP) variants and VUS in 1,462 patients approved by insurance to have a similar clinical germline cancer test (p = .59 for P/LP variants; p = .87 for VUS; Shirts et al., Genet Med, 18:974, 2016). Health insurance guidelines may not meaningfully differentiate between patients with cancer who are likely to benefit from germline cancer genetic testing and those who will not. Failure to identify pathogenic variants in this research cohort would have led to suboptimal care. Strategic evaluation of current germline cancer genetic testing coverage policies is needed to appropriately deliver precision medicine.
在这项研究中，我们探究了保险不涵盖生殖系癌症基因检测的个体进行此类检测的结果。我们招募了31名有个人癌症病史的患者，他们的健康保险公司拒绝为医学遗传学提供者推荐的临床生殖系癌症基因检测面板提供保险，这些患者参与了一项提供外显子组测序并反馈癌症相关结果的研究。5名参与者（16%）检测出与癌症风险增加相关的致病变异。3名参与者（10%）在与其癌症病史相关的基因中检测出意义未明的变异（VUS）。这些比率与1462名经保险批准进行类似临床生殖系癌症检测的患者中12%的致病或可能致病（P/LP）变异及VUS比率相比，并无显著差异（P/LP变异的p值为0.59；VUS的p值为0.87；Shirts等人，《遗传医学》，18:974，2016年）。健康保险指南可能无法有效区分可能从生殖系癌症基因检测中获益的癌症患者和无法获益的患者。在这个研究队列中未能识别致病变异可能会导致治疗效果不佳。需要对当前生殖系癌症基因检测覆盖政策进行战略评估，以适当提供精准医疗。
