遗传咨询的应用策略探讨

L. Ying, Minhua Deng, Jinman Zhang
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引用次数: 0

摘要

:近年来,随着遗传学领域的快速发展,遗传咨询服务在产科、生殖遗传学、儿科学等学科中发展迅速,在肿瘤学等其他学科的医疗过程中也逐步发展起来,多学科会诊。遗传咨询医师可以通过判断遗传病的发病机制、选择合适的基因检测技术、分析检测结果、诊断疾病、开展遗传咨询协助遗传病治疗、给予生育指导等方式,降低遗传病复发的风险。遗传咨询服务是遗传咨询医师通过适当的遗传咨询策略,将遗传基础研究和基因实验室检测技术转化为临床,降低出生缺陷和遗传性疾病复发的风险,减轻遗传性疾病对患者自身、家庭和社会的精神和经济负担。同时,随着我国生育政策的开放,高龄孕妇比例的增加和出生缺陷风险的增加,以及“健康中国2030”计划的实施,对多个学科的遗传咨询服务需求增加。本文将讨论当前遗传咨询服务策略在临床医学中的实际应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Discussion on Application Strategies of Genetic Counseling
: In recent years, with the rapid development of the field of genetics, genetic counseling services have developed rapidly in obstetrics, reproductive genetics, pediatrics and other disciplines, and are also gradually developed in the medical process of other disciplines such as oncology and multidisciplinary consultation. Genetic counseling physicians can reduce the risk of recurrence of genetic diseases by judging the pathogenesis of genetic diseases, selecting appropriate genetic testing techniques, analyzing test results, diagnosing diseases, carrying out genetic counseling to assist the treatment of genetic diseases, and giving fertility guidance. Genetic counseling service is the genetic counseling physicians through appropriate genetic counseling strategies to genetic basic research and genetic laboratory testing technology into clinical transformation, reduces the risk of birth defects and genetic diseases recurrence,reduces the mental and economic burden of hereditary diseases on the patients themselves, their families and society. At the same time, with the opening-up of Chinese fertility policy, the increase of the proportion of older pregnant women and the increase of the risk of birth defects, as well as the implementation of the "Healthy China 2030" program, the demand for genetic counseling services has increased in many disciplines. This paper will discuss the practical application of the current genetic counseling service strategy in clinical medicine.
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