Westwood Women's Health, Waterbury, Connecticut; Associates for Women's Medicine, Syracuse, New York; Myriad Genetics Inc., and Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Obstet Gynecol. 2018 Nov;132(5):1121-1129. doi: 10.1097/AOG.0000000000002916.
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.
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.
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.
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.
评估在社区妇产科实践环境中纳入常规遗传性癌症风险评估、咨询和后续基因检测的可行性和结果，而无需转介给遗传咨询师。
本前瞻性过程干预研究在两个妇产科实践组（五个地点）中进行。干预措施包括基线过程评估、改进特定诊所的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。在干预后的 8 周内，测量与遗传性癌症评估和检测相关的结果。患者和医疗保健提供者对该过程的满意度进行了调查。在干预前的 8 周内还收集了数据，以评估筛查流程改进的效果。
在干预后的 8 周内共对 4107 名患者进行了评估，其中 92.8%（3811 名）接受了遗传性癌症风险评估。在接受评估的患者中，3811 名女性中有 906 名符合国家综合癌症网络的基因检测指南，其中 813 名符合条件的患者中有 89.7%（813 名）接受了基因检测。4107 名女性中有 165 名（4.0%）完成了基因检测并收到了最终检测结果。这比干预前的基因检测（1.1%）增加了四倍，比前一年（0.5%）增加了八倍。检测发现 165 名接受检测的女性中有 9 名（5.5%）存在致病性变异。所有医疗保健提供者（15/15）均表示他们将继续使用既定的遗传性癌症风险评估流程。此外，完成基因检测并完成患者满意度调查的 167 名（167/169）患者中有 98.8%表示他们能够理解提供的信息，而 165 名（165/169）患者中有 97.6%表示对整个过程感到满意。
将遗传性癌症风险评估、教育和检测纳入社区妇产科实践是可行的。因此，多基因面板检测确定了重大的癌症风险，如果不进行检测，这些风险将不会被识别。
