Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting
Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting
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DOI：
10.1097/aog.0000000000002916
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发表时间：
2018-11-01
影响因子：
7.2
通讯作者：
Adkins, Royce T.
中科院分区：
文献类型：
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作者：
DeFrancesco, Mark S.;Waldman, Richard N.;Adkins, Royce T.
目的：评估在社区妇产科实践中纳入常规遗传性癌症风险评估、咨询和随访基因检测的可行性和结果，而无需转诊遗传咨询师。方法：本前瞻性过程干预研究在两个妇产科实习组（五个地点）进行。干预措施包括基线过程评估，细化临床特异性患者筛查工作流程和工具，以及遗传性癌症风险筛查和随访方面的培训。在干预后8周期间测量与遗传性癌症评估和检测相关的结果。调查了患者和卫生保健提供者对这一过程的满意度。在干预前8周收集数据，以评估筛查过程改进的效果。结果：干预后共观察到4107例患者，其中92.8%（3811例）被评估为遗传性癌症风险。在这些评估中，3811名女性中有906名（23.8%）符合国家综合癌症网络基因检测指南，906名符合条件的患者中有813名（89.7%）接受了基因检测。4107名妇女中有165名（4.0%）完成了基因检测并获得了最终检测结果。这比干预前的基因检测增加了4倍（1.1%），比前一年增加了8倍（0.5%）。165名接受检测的妇女中有9名（5.5%）检测出致病变异。所有卫生保健提供者（15/15）报告说，他们将继续使用既定的遗传性癌症风险评估程序。此外，98.8%（167/169）提交样本进行基因检测并完成患者满意度调查的患者表示他们能够理解所提供的信息，97.6%（165/169）表示对整个过程感到满意。结论：将遗传肿瘤风险评估、教育和检测纳入社区妇产科实践是可行的。结果，多基因小组测试发现了原本不会被发现的重大癌症风险。
OBJECTIVE: To evaluate the feasibility and results of incorporating routine hereditary cancer risk assessment, counseling, and follow-up genetic testing in the community obstetrics and gynecology practice setting without referral to a genetic counselor.METHODS: This prospective process intervention study was conducted with two obstetrics and gynecology practice groups (five sites). The intervention included baseline process assessment, refinement of clinic-specific patient screening workflows and tools, and training in hereditary cancer risk screening and follow-up. Outcomes related to hereditary cancer assessment and testing were measured during an 8-week postintervention period. Patients and health care providers were surveyed about satisfaction with the process. Data also were collected during the 8 weeks before the intervention to assess the effects of screening process improvements.RESULTS: A total of 4,107 patients were seen during the postintervention period, and 92.8% (3,811) were assessed for hereditary cancer risk. Among those assessed, 906 of 3,811 (23.8%) women met National Comprehensive Cancer Network guidelines for genetic testing, and 813 of 906 (89.7%) eligible patients were offered genetic testing. A total of 165 of 4,107 (4.0%) women completed genetic testing and received a final test result. This represents a fourfold increase over genetic testing immediately before the intervention (1.1%) and an eightfold increase over the previous year (0.5%). Testing identified pathogenic variants in 9 of 165 (5.5%) tested women. All health care providers (15/15) reported that they will continue to use the established hereditary cancer risk assessment process. In addition, 98.8% (167/169) of patients who submitted a sample for genetic testing and completed a patient satisfaction survey stated that they were able to understand the information provided, and 97.6% (165/169) expressed satisfaction with the overall process.CONCLUSION: It is feasible to incorporate hereditary cancer risk assessment, education, and testing into community obstetrics and gynecology practices. As a result, multigene panel testing identified significant cancer risks that otherwise would not have been recognized.