摘要
基于新一代测序结果的遗传学咨询的难度大大增加,遗传咨询医生必须重新界定咨询原则和咨询方式。基于二代测序结果的、符合医患双方共同利益的产前诊断指引,认为如产前诊断专业咨询人员面对高通量测序结果时,仍应该专注于目标疾病的诊断,但更加强调多学科参与从而给患者提供更加详实的咨询建议。针对不明意义突变基因数据的咨询必须谨慎,避免过度解读,应适当应用伦理学中的知情权/不知情权原则以最大限度减少患者焦虑。对于试图由基因诊断来预测胎儿出生后状态,遗传咨询医生应非常明确告知患者,胎儿某些表型尤其是微小异常表现和一些迟发性异常的表型,与产前检测基因关联度有限,任何情况下都不可以用不完善的相关基因资料和表征遗传学资料来预测胎儿产后发育状况。
The difficulty of genetic counseling based on the results of the next generation sequencing has greatly increased, and genetic counselors must redefine the principles and methods of counseling. Based on the results of the next generation sequencing and prenatal diagnostic guidelines which are in the common interests of both doctors and patients, it is believed that when faced with high-throughput sequencing results, professional consultants of prenatal diagnosis should still focus on the diagnosis of target diseases and pay more attention to multi-disciplinary participation, so as to provide more detailed advice to patients. The counseling of unknown mutation gene data should be cautious and avoid over-interpretation. The principle of right to know/right not to know in ethics should be properly applied to minimize patients’ anxiety. For attempts to predict fetal postnatal status by genetic diagnosis, genetic counsellors should be very explicit to inform patients that it cannot use imperfect genetic data and phenotypic genetic data to predict fetal postpartum development in any case, because of the limited association between fetal phenotypes and prenatal detection genes, especially minor abnormalities and some delayed abnormalities.
作者
韩瑾
崔颖秋
许澍铮
陆军燕
马玉红
杨济敏
彭拥花
刘玉娟
HAN Jin;CUI Yingqiu;XU Shuzheng;LU Junyan;MA Yuhong;YANG Jimin;PENG Yonghua;LIU Yujuan(Prenatal Diagnosis Center, Guangzhou Women and Children’s Medical Center, Guangzhou 510623, China;Prenatal Diagnosis Center, Dongguan Kanghua Hospital, Dongguan 523080, China)
出处
《中国医学伦理学》
2019年第10期1302-1306,1328,共6页
Chinese Medical Ethics
基金
广东省省级科技计划项目“应用高通量测序技术筛选与鉴定唇腭裂致病基因的研究”(2016A020218003)
东莞市社会科技发展重点项目“孕早期胎儿唇腭裂3D超声诊断和全基因组拷贝数变异意义研究”(2018507150591625)
广州市科技计划项目“基于高通量测序技术唇腭裂致病基因的筛选与鉴定”(201607010341)
关键词
新一代测序
产前诊断
遗传学咨询
医学伦理
Next Generation Sequencing
Prenatal Diagnosis
Genetic Counseling
Medical Ethics
