研究动态
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同日服务:改进卵巢癌患者生殖细胞系遗传测试的基因检测站模型。

Same day service: A genetic testing station model to improve germline genetic testing in patients with ovarian cancer.

发表日期:2023 Aug 26
作者: Nicole Marjon, Rosa Guerra, Alexandra Freeman, Julie Mak, Stephanie Cheung, Kelly Gordon, Amie Blanco, Stefanie Ueda, Lee-May Chen
来源: GYNECOLOGIC ONCOLOGY

摘要:

卵巢癌(OC)患者的基因测试对于考虑使用PARP抑制剂疗法至关重要。为了改善患者获得基因测试的机会,我们推出了遗传测试站(GTS),允许患者通过遗传咨询助理(GCA)在遗传咨询师(GC)的监督下进行当天基因测试。GTS于2018年12月开始实施,并持续到2020年2月。妇科肿瘤学家向卵巢癌患者提供同日GTS会诊,会诊由GCA负责。患者通过由GC设计的视频进行教育,随后签署同意书、提供简要的家族病史,并提供一个标准化的133基因检测样本。结果由GC提供。通过查询医疗记录,我们追溯性地选取了在GTS实施前12个月和实施后18个月接受过GTS的卵巢癌患者。在比较GTS实施前后的患者中,我们共计选取了482名患者和625名患者。实施GTS后,基因测试的比例从68.5%增加到了75.4%(p = 0.012),主要是在具有上皮组织学的患者中(前GTS组和后GTS组分别为80%和89%,p = 0.005)。对后GTS队列的患者进行了筛查,比较了接受传统咨询和使用GTS的患者进行基因测试所需的时间。结果显示,GTS组获得结果的时间为21天(95% CI [10, 34]),而传统基因咨询组为56天(95% CI [41,76])。GTS能够降低医疗服务的障碍,方便及时讨论精准治疗,同时优化了GC的门诊时间。改善患者获得基因测试的机会仍然是提高基因测试应用的关键因素。由Elsevier Inc.出版。
Genetic testing for ovarian cancer (OC) patients is essential to consideration of PARP inhibitor therapy. To improve access, we piloted a Genetic Testing Station (GTS) allowing patients to have a same-day genetic testing visit facilitated by Genetic Counselor Assistants (GCAs) under the supervision of Genetic Counselors (GCs).The GTS was implemented December 2018 and operated through February 2020. Gynecologic Oncologists offered ovarian cancer patients a same-day GTS visit with a GCA. The patient received education via videos designed by GCs and then provided consent, a brief family history, and a sample for a standardized 133-gene panel. Results were provided by a GC. Patients were retrospectively identified by querying the medical record for OC patients seen 12 months prior to and 18 months after GTS implementation.A total of 482 patients pre-GTS were compared to 625 patients post-GTS. Genetic testing increased from 68.5% to 75.4% (p = 0.012) after implementation, primarily in patients with epithelial histologies (80% vs 89% in pre-GTS vs post-GTS, p = 0.005). Time from referral for genetic testing to obtaining results was evaluated in the post-GTS cohort, comparing patients who had traditional counseling to those who utilized the GTS. Time to obtaining results was 21 days in the GTS group (95% CI [10, 34]) compared to 56 days (95% CI [41,76]) in the traditional genetic counseling group.The GTS reduces barriers to care and facilitates discussion of precision treatment within a timely fashion while optimizing GC clinic time. Access improvement remains integral to improving uptake of genetic testing.Published by Elsevier Inc.