Division of Genetic Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI.
Division of Oncology, Veterans Affairs Ann Arbor Healthcare System, Ann Arbor, MI.
JCO Oncol Pract. 2022 Jun;18(6):e966-e973. doi: 10.1200/OP.21.00693. Epub 2022 Mar 8.
Increased access and utilization of tumor profiling of cancers in our veteran population uncovered a modest number of potentially pathogenic germline variants (PPGVs) that require genetics referral for follow-up evaluation and germline sequencing. Challenges identified specific to the veteran population include paucity of genetics providers, either at a veteran's VA facility or nearby non-VA facilities. We sought to investigate the number of veterans who would benefit from having such resources at both local and national levels.
Annotated clinical reports of mutations identified by tumor-only profiling and medical records of veterans with solid tumors at the Veterans Administration Ann Arbor Healthcare System (VA AAHS) between 2015 and 2020 were reviewed. PPGVs were identified according to society recommendations (such as ESMO and American Board of Medical Genetics and Genomics), expert review, and/or previously published criteria. After the analysis of our local VA population, these same criteria were then applied to veterans in the National Precision Oncology Program (NPOP).
Two hundred eight veterans underwent tumor profiling at the VA AAHS over the defined time period. This included 20 different primary tumor sites with over half (n = 130) being advanced cancer at diagnosis. Of these, 18 veterans (8.5%) had mutations suggestive of a PPGV. Applying these criteria to the larger NPOP database (n = 20,014), a similar percentage (6%) of PPGVs were identified.
These results indicate a PPGV frequency (6%-9% of veterans) consistent with the prevalence of inherited cancer predisposition syndromes in the general population, underscoring the need for medical genetics as part of standard oncologic care for veterans. We explore current and future care delivery models to optimize incorporation of medical genetics and genetic counseling to best serve veterans needing such services.
增加退伍军人癌症肿瘤分析的可及性和利用率，发现了少量潜在致病性种系变异（PPGV），需要遗传咨询以进行随访评估和种系测序。退伍军人群体中存在的挑战包括退伍军人 VA 机构或附近非 VA 机构中缺乏遗传咨询师。我们旨在调查在地方和国家各级有多少退伍军人将受益于拥有这些资源。
回顾了 2015 年至 2020 年期间在退伍军人管理局安阿伯医疗系统（VA AAHS）接受肿瘤仅分析和实体瘤退伍军人病历的突变注释临床报告。根据社会建议（如 ESMO 和美国医学遗传学和基因组学委员会）、专家审查和/或以前的标准确定 PPGV。在分析了我们的当地 VA 人群后，这些相同的标准也适用于国家精准肿瘤学计划（NPOP）中的退伍军人。
在规定的时间内，有 208 名退伍军人在 VA AAHS 进行了肿瘤分析。这包括 20 个不同的原发肿瘤部位，其中超过一半（n=130）在诊断时为晚期癌症。其中，18 名退伍军人（8.5%）有提示 PPGV 的突变。将这些标准应用于更大的 NPOP 数据库（n=20,014），发现了类似比例（6%）的 PPGV。
这些结果表明，PPGV 的发生率（6%-9%的退伍军人）与一般人群中遗传性癌症易感性综合征的患病率一致，这强调了将医学遗传学作为退伍军人标准肿瘤治疗的一部分的必要性。我们探讨了当前和未来的护理提供模式，以优化医学遗传学和遗传咨询的纳入，为需要此类服务的退伍军人提供最佳服务。
