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首页> 外文期刊>Journal of Clinical Oncology >Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer.
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Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer.

机译：专业人士评估植入前遗传学诊断和产前诊断对遗传性癌症易感性的可接受性。

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PURPOSE: Preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) practices for inherited predisposition to cancer are heterogeneous in industrialized countries. In France, permission to perform PGD/PND must be obtained from registered Multidisciplinary Prenatal Diagnosis Teams (MPDTs). The aim of this study was to determine French professionals' attitudes about the acceptability of PGD and PND for inherited predisposition to cancer. METHODS: A cross-sectional survey was performed, involving self-administered questionnaires mailed to all registered cancer geneticists (CGs; n = 123) and MPDTs (n = 47) in France. RESULTS: The response rates of CGs and MPDTs were 62% and 64%, respectively; 59% and 50% of the CGs had at least discussed PGD and PND, respectively, with their consultees during the previous year. When severe cancer is liable to occur in childhood with a high penetrance and no effective methods of prevention/treatment exist, high rates of acceptability of PGD/PND were recorded (> 80%). When cancer is liable to occur before the age of 50 years but not in childhood and some form of prevention/treatment is available that preserves quality of life, PGD was rated as acceptable by one MPDT (3.3%) and 10 CGs (13.2%), and PND was rated acceptable by nine CGs (11.8%). Most respondents agreed that the acceptability of PND/PGD depends on patients' family history of cancer and their reproductive history. CONCLUSION: With the most severe forms of inherited cancer, no differences were observed between the acceptability to practitioners of PND and PGD, but with late-onset syndromes, there is still much uncertainty. Guidelines would help to standardize the practices of professionals handling these reproductive issues.
机译：目的：遗传性癌症易感性的植入前遗传学诊断（PGD）和产前诊断（PND）实践在工业化国家中是异类的。在法国，必须从注册的多学科产前诊断小组（MPDT）获得执行PGD / PND的许可。这项研究的目的是确定法国专业人员对PGD和PND对于遗传性癌症易感性的可接受性的态度。方法：进行了一项横断面调查，涉及邮寄给法国所有注册癌症遗传学家（CG; n = 123）和MPDT（n = 47）的自我管理调查表。结果：CGs和MPDTs的响应率分别为62％和64％。在上一年中，分别有59％和50％的CG与受咨询者讨论过PGD和PND。当严重的癌症易于在儿童中高发病率发生，而没有有效的预防/治疗方法时，则PGD / PND的可接受率很高（> 80％）。当癌症很可能在50岁之前发生但在儿童时期则没有，并且可以通过某种形式的预防/治疗来维持生活质量时，PGD被一种MPDT（3.3％）和10种CG（13.2％）评为可接受。 ，PND被9个CG（11.8％）评为可接受。大多数受访者同意，PND / PGD的可接受性取决于患者的癌症家族史和生殖史。结论：对于最严重的遗传性癌症，PND和PGD的从业者之间的接受度没有差异，但是对于晚期发病综合征，仍然存在很多不确定性。准则将有助于规范处理这些生殖问题的专业人员的做法。

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