临床遗传咨询服务中的应用策略探讨
云南省第一人民医院, 医学遗传科, 云南昆明 650032
| 摘 要： | 近年来，随着遗传学学科的快速发展，遗传咨询服务在产科、生殖遗传科、儿科等学科的应用中发展较快，在肿瘤学及多学科会诊等其它学科的医疗过程中也在逐步开展，遗传咨询医师通过对遗传性疾病发病机制的判断、选择合适的遗传学检测技术、分析检测结果、进行疾病诊断、开展遗传咨询以辅助遗传性疾病的治疗、给予生育指导，从而降低遗传性疾病的再发风险。遗传咨询服务是遗传咨询医师通过遗传咨询策略将遗传学基础研究及遗传学实验室检测技术向临床转化，降低了出生缺陷以及遗传性疾病的发生风险，减少了遗传性疾病给患者本身、家庭以及社会带来的精神以及经济负担。同时，我国生育政策开放后高龄孕妇比例增加，出生缺陷的发生风险上升，随着《“健康中国2030”规划纲要》的进行，遗传咨询服务需求在多个学科中增加，本文将探讨目前遗传咨询服务策略在临床医学中的实际应用。 |
| 关 键 词： | 出生缺陷防控; 遗传咨询; 思路 |
| DOI： | 10.57237/j.wjcm.2022.01.006 |
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收稿日期: 2022-11-24
接受日期: 2023-01-16
在线出版日期: 2023-02-03
Discussion on Application Strategies of Genetic Counseling
Department of Medical Genetics, the First People’s Hospital of Yunnan Province, Kunming 650032, China
| Abstract: | 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. |
| Keywords: | Birth Defect Prevention and Control; Genetic Counseling; Thought |
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