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重新审视基因筛查与口服避孕药:以患者为中心的综述

Re-Examining Genetic Screening and Oral Contraceptives: A Patient-Centered Review.

作者信息

Hiedemann Bridget, Vernon Erin, Bowie Bonnie H

机构信息

Department of Economics, Seattle University, 901 12th Avenue, Seattle, WA 98122, USA.

College of Nursing, Seattle University, 901 12th Avenue, Seattle, WA 98122, USA.

出版信息

J Pers Med. 2019 Jan 15;9(1):4. doi: 10.3390/jpm9010004.

DOI:10.3390/jpm9010004
PMID:30650548
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6462992/
Abstract

The World Health Organization classifies combined hormonal contraception as an unacceptable health risk in the presence of a known thrombogenic mutation but advises against routine thrombophilia screening before initiating combined oral contraceptives (COCs) on the grounds of high screening costs and low prevalence. From the perspective of patient-centered care, we examine cost, prevalence, and other published arguments for and against thrombophilia screening before initiating COCs. Our patient-centered review draws on relevant empirical evidence concerning the advantages and disadvantages of thrombophilia screening, while placing the discussion in the broader context of evolving attitudes toward genetic testing and a shifting policy landscape that provides many women direct access to COCs and/or thrombophilia screening. Given variation in prior probabilities of thrombophilia, expected exposure to other risk factors for venous thromboembolism, attitudes towards risk, expected reactions to a positive test result, ability to pay, and concerns about genetic discrimination, we conclude that the current one-size-fits-most approach is not consistent with patient-centered care. Instead, we advocate for greater patient and provider education concerning the implications of thrombophilia screening. Moreover, we recommend offering patients optional thrombophilia screening before initiating COCs.

摘要

世界卫生组织将已知存在血栓形成基因突变时的复方激素避孕归类为不可接受的健康风险,但基于筛查成本高和患病率低的原因,建议在开始使用复方口服避孕药(COC)之前不要进行常规的血栓形成倾向筛查。从以患者为中心的护理角度出发,我们审视了在开始使用COC之前进行血栓形成倾向筛查的成本、患病率以及其他已发表的支持和反对筛查的观点。我们以患者为中心的综述借鉴了有关血栓形成倾向筛查利弊的相关实证证据,同时将讨论置于对基因检测态度不断演变以及政策格局不断变化的更广泛背景下,这种变化使许多女性能够直接获得COC和/或血栓形成倾向筛查。鉴于血栓形成倾向的先验概率存在差异、预期暴露于静脉血栓栓塞的其他风险因素、对风险的态度、对阳性检测结果的预期反应、支付能力以及对基因歧视的担忧,我们得出结论,当前的一刀切方法不符合以患者为中心的护理理念。相反,我们主张加强患者和提供者对血栓形成倾向筛查影响的教育。此外,我们建议在开始使用COC之前为患者提供可选的血栓形成倾向筛查。

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Re-Examining Genetic Screening and Oral Contraceptives: A Patient-Centered Review.重新审视基因筛查与口服避孕药:以患者为中心的综述
J Pers Med. 2019 Jan 15;9(1):4. doi: 10.3390/jpm9010004.
2
Economic Evaluations of Thrombophilia Screening Prior to Prescribing Combined Oral Contraceptives: A Systematic and Critical Review.血栓形成倾向筛查在处方复方口服避孕药之前的经济学评价:系统和批判性评价。
Appl Health Econ Health Policy. 2017 Oct;15(5):583-595. doi: 10.1007/s40258-017-0318-x.
3
Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study.高风险情况下的易栓症筛查:系统评价与成本效益分析。易栓症筛查的血栓形成:风险与经济评估(TREATS)研究。
Health Technol Assess. 2006 Apr;10(11):1-110. doi: 10.3310/hta10110.
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Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis.口服避孕药、血栓形成倾向与静脉血栓栓塞风险:系统评价和荟萃分析。
J Thromb Haemost. 2016 Jul;14(7):1393-403. doi: 10.1111/jth.13349. Epub 2016 Jun 16.
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Hormonal contraceptives as a risk factor for cerebral venous and sinus thrombosis.激素避孕药作为脑静脉和静脉窦血栓形成的一个风险因素。
Acta Neurol Scand. 2007 May;115(5):295-300. doi: 10.1111/j.1600-0404.2007.00824.x.
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Can a change in screening and prescribing practice reduce the risk of venous thromboembolism in women taking the combined oral contraceptive pill?筛查和处方实践的改变能否降低服用复方口服避孕药的女性发生静脉血栓栓塞的风险?
Br J Fam Plann. 1998 Jan;23(4):112-5.
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Does use of hormonal contraceptives among women with thrombogenic mutations increase their risk of venous thromboembolism? A systematic review.具有血栓形成基因突变的女性使用激素避孕药会增加其静脉血栓栓塞的风险吗?一项系统综述。
Contraception. 2006 Feb;73(2):166-78. doi: 10.1016/j.contraception.2005.08.011. Epub 2005 Nov 2.
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Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.复方口服避孕药与静脉血栓栓塞症:风险减轻的回顾与展望。
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Is screening for thrombophilia cost-effective?筛查易栓症是否具有成本效益?
Curr Opin Hematol. 2007 Sep;14(5):500-3. doi: 10.1097/MOH.0b013e32825f5318.
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Combined hormonal contraceptive use among breastfeeding women: an updated systematic review.哺乳期妇女联合使用激素避孕药:一项更新的系统评价。
Contraception. 2016 Sep;94(3):262-74. doi: 10.1016/j.contraception.2015.05.006. Epub 2015 May 19.

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Cost-effective screening strategy to prevent venous thromboembolism in combined oral contraceptive users.预防复方口服避孕药使用者静脉血栓栓塞的经济有效的筛查策略。
Front Endocrinol (Lausanne). 2025 Jun 12;16:1559162. doi: 10.3389/fendo.2025.1559162. eCollection 2025.
2
Thrombophilia Impact on Treatment Decisions, Subsequent Venous or Arterial Thrombosis and Pregnancy-Related Morbidity: A Retrospective Single-Center Cohort Study.易栓症对治疗决策、后续静脉或动脉血栓形成及妊娠相关发病率的影响:一项回顾性单中心队列研究
J Clin Med. 2022 Jul 19;11(14):4188. doi: 10.3390/jcm11144188.

本文引用的文献

1
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.直接面向消费者的基因检测产生的假阳性结果强调了为适当的患者护理进行临床确认检测的重要性。
Genet Med. 2018 Dec;20(12):1515-1521. doi: 10.1038/gim.2018.38. Epub 2018 Mar 22.
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Thromboembolism peaking 3 months after starting testosterone therapy: testosterone-thrombophilia interactions.开始睾丸激素治疗后 3 个月达到血栓栓塞高峰:睾丸激素-血栓形成倾向的相互作用。
J Investig Med. 2018 Apr;66(4):733-738. doi: 10.1136/jim-2017-000637. Epub 2017 Dec 15.
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A systematic review of cost-effectiveness analysis of screening interventions for assessing the risk of venous thromboembolism in women considering combined oral contraceptives.系统评价评估考虑使用复方口服避孕药的女性发生静脉血栓栓塞风险的筛查干预措施的成本效益分析。
J Thromb Thrombolysis. 2017 Nov;44(4):494-506. doi: 10.1007/s11239-017-1554-5.
4
Providing family planning services to women in Africa.为非洲妇女提供计划生育服务。
Bull World Health Organ. 2017 Sep 1;95(9):614-615. doi: 10.2471/BLT.17.020917.
5
Direct-to-Consumer Medical Testing in the Era of Value-Based Care.基于价值医疗时代的直接面向消费者的医学检测
JAMA. 2017 Jun 27;317(24):2485-2486. doi: 10.1001/jama.2017.5929.
6
Interventions to reduce the risk of ovarian and fallopian tube cancer: A European Menopause and Andropause Society Postition Statement.降低卵巢癌和输卵管癌风险的干预措施:欧洲绝经与雄性激素缺乏协会立场声明
Maturitas. 2017 Jun;100:86-91. doi: 10.1016/j.maturitas.2017.03.003. Epub 2017 Mar 15.
7
Economic Evaluations of Thrombophilia Screening Prior to Prescribing Combined Oral Contraceptives: A Systematic and Critical Review.血栓形成倾向筛查在处方复方口服避孕药之前的经济学评价:系统和批判性评价。
Appl Health Econ Health Policy. 2017 Oct;15(5):583-595. doi: 10.1007/s40258-017-0318-x.
8
Testosterone treatment and risk of venous thromboembolism: population based case-control study.睾酮治疗与静脉血栓栓塞风险:基于人群的病例对照研究。
BMJ. 2016 Nov 30;355:i5968. doi: 10.1136/bmj.i5968.
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Understanding the Decline in Adolescent Fertility in the United States, 2007-2012.解读2007 - 2012年美国青少年生育率的下降情况
J Adolesc Health. 2016 Nov;59(5):577-583. doi: 10.1016/j.jadohealth.2016.06.024. Epub 2016 Aug 29.
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Venous thromboembolism and subsequent permanent work-related disability.静脉血栓栓塞症及随后的永久性与工作相关的残疾。
J Thromb Haemost. 2016 Oct;14(10):1978-1987. doi: 10.1111/jth.13411. Epub 2016 Aug 17.