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在综合癌症中心中,卵巢癌患者进行种系基因检测推荐和完成的预测因素。

Predictors of germline genetic testing referral and completion in ovarian cancer patients at a Comprehensive Cancer Center.

机构信息

Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA, United States of America.

University of North Carolina School of Medicine, Chapel Hill, NC, United States of America.

出版信息

Gynecol Oncol. 2024 Jul;186:53-60. doi: 10.1016/j.ygyno.2024.03.028. Epub 2024 Apr 9.

Abstract

OBJECTIVES

To identify predictors of referral and completion of germline genetic testing among newly diagnosed ovarian cancer patients, with a focus on geographic social deprivation, oncologist-level practices, and time between diagnosis and completion of testing.

METHODS

Clinical and sociodemographic data were abstracted from medical records of patients newly diagnosed with ovarian cancer between 2014 and 2019 in the University of North Carolina Health System. Factors associated with referral for genetic counseling, completion of germline testing, and time between diagnosis and test results were identified using multivariable regression.

RESULTS

307/459 (67%) patients were referred for genetic counseling and 285/459 (62%) completed testing. The predicted probability of test completion was 0.83 (95% CI: 0.77-0.88) for patients with a referral compared to 0.27 (95% CI: 0.18-0.35) for patients without a referral. The predicted probability of referral was 0.75 (95% CI: 0.69-0.82) for patients at the 25th percentile of ZIP code-level Social Deprivation Index (SDI) and 0.67 (0.60-0.74) for patients at the 75th percentile of SDI. Referral varied by oncologist, with predicted probabilities ranging from 0.47 (95% CI: 0.32-0.62) to 0.93 (95% CI: 0.85-1.00) across oncologists. The median time between diagnosis and test results was 137 days (IQR: 55-248 days). This interval decreased by a predicted 24.46 days per year (95% CI: 37.75-11.16).

CONCLUSIONS

We report relatively high germline testing and a promising trend in time from diagnosis to results, with variation by oncologist and patient factors. Automated referral, remote genetic counseling and sample collection, reduced out-of-pocket costs, and educational interventions should be explored.

摘要

目的

确定新诊断卵巢癌患者中种系基因检测转诊和完成情况的预测因素,重点关注地理社会剥夺、肿瘤医生水平实践以及诊断与检测完成之间的时间。

方法

从 2014 年至 2019 年在北卡罗来纳大学健康系统新诊断为卵巢癌的患者的病历中提取临床和社会人口统计学数据。使用多变量回归确定与遗传咨询转诊、种系检测完成以及诊断与检测结果之间时间相关的因素。

结果

307/459(67%)名患者被转诊接受遗传咨询,285/459(62%)名患者完成了检测。与未转诊患者相比,有转诊的患者检测完成的预测概率为 0.83(95%置信区间:0.77-0.88),而无转诊的患者为 0.27(95%置信区间:0.18-0.35)。对于邮政编码水平社会剥夺指数(SDI)第 25 百分位的患者,预测转诊的概率为 0.75(95%置信区间:0.69-0.82),对于 SDI 第 75 百分位的患者为 0.67(0.60-0.74)。转诊因肿瘤医生而异,预测概率范围从 0.47(95%置信区间:0.32-0.62)到 0.93(95%置信区间:0.85-1.00)。诊断与检测结果之间的中位时间为 137 天(IQR:55-248 天)。每年预计会减少 24.46 天(95%置信区间:37.75-11.16)。

结论

我们报告了相对较高的种系检测率和从诊断到结果的时间有了很有希望的趋势,但存在肿瘤医生和患者因素的差异。应探索自动转诊、远程遗传咨询和样本采集、降低自付费用和教育干预措施。

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本文引用的文献

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Germline Genetic Testing After Cancer Diagnosis.癌症诊断后的种系基因检测。
JAMA. 2023 Jul 3;330(1):43-51. doi: 10.1001/jama.2023.9526.
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Telehealth for genetic counseling: A systematic evidence review.远程遗传咨询:系统证据评价。
J Genet Couns. 2021 Oct;30(5):1361-1378. doi: 10.1002/jgc4.1481. Epub 2021 Aug 6.

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