Look Before You Leap Genomic Screening in Obstetrics and Gynecology
Look Before You Leap Genomic Screening in Obstetrics and Gynecology
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DOI：
10.1097/aog.0000000000000871
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发表时间：
2015-06-01
影响因子：
7.2
通讯作者：
Vora, Neeta L.
中科院分区：
文献类型：
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作者：
Adams, Michael C.;Berg, Jonathan S.;Vora, Neeta L.
有一些新的基因测试和各种建议的妇产科医生。近年来，已提出对低风险孕妇进行无创产前检测筛查，以及对所有妇女进行BRCA1和BRCA2筛查，无论其风险状况如何。这两种拟议的基因筛查测试提出了复杂的问题，涉及预测价值，成本和筛查后的后果，以整个医疗保健系统以及对患者的严重潜在不良后果。此外，在临床医生正确使用这些基因检测的教育方面存在重大障碍，在忙碌的全科诊所中进行充分的遗传咨询也存在后勤问题。我们建议孕妇提供无创产前检查被告知其优点和缺点相比，标准筛查与警告，积极的无创产前检查必须进一步确认，侵入性测试。我们不建议对所有女性进行BRCA1和BRCA2突变的群体遗传筛查，直到有关于危害和益处以及成本效益的全面数据。最后，我们建议为妇产科住院医师培训开发新的遗传学教育模式，以便未来的医疗保健提供者为基因检测带来的机遇和挑战做好准备。
There are a number of new genetic tests and a variety of recommendations for obstetrician-gynecologists. In recent years, screening of low-risk pregnant women with noninvasive prenatal testing has been proposed as well as universal BRCA1 and BRCA2 screening of all women regardless of risk status. Both proposed genetic screening tests raise complicated issues relating to predictive value, cost, and consequences after screening to both the health care system as a whole as well as serious potential adverse consequences for the patient. In addition, there are significant barriers relating to clinician education in proper use of these genetic tests as well as logistic issues of performing adequate genetic counseling in a busy general practice. We recommend that pregnant women offered noninvasive prenatal testing be informed of its advantages and disadvantages compared with standard screening with the caveat that positive noninvasive prenatal tests must be confirmed with further, invasive testing. We recommend against population genetic screening of all women for BRCA1 and BRCA2 mutations until there are comprehensive data regarding harms and benefits as well as cost-effectiveness. Finally, we recommend that new educational models for genetics be developed for obstetrics and gynecology residency training so that future health care providers will be prepared for the opportunities and challenges that genetic testing creates.