中信湘雅医院遗传服务中的伦理探讨

发布时间：2018-03-19 01:02

本文选题：生殖遗传　切入点：遗传咨询　出处：《中南大学》2012年硕士论文　论文类型：学位论文

【摘要】：遗传病是由于基因突变或染色体畸变引起的疾病,虽然不一定代代相传,但一旦患上遗传病,则往往症状非常严重。遗传病是影响人口素质的重要因素,也是出生缺陷的主要原因。遗传病包括染色体病、单基因病、多基因病和线粒体病。众所周知,计划生育与优生优育为我国的基本国策,但因为遗传病的根本病因在于遗传物质的缺陷,至今尚无纠正有缺陷的致病基因或染色体的有效办法以及治疗方法,所以用适当的医疗技术预防遗传病患儿的出生,是达到减少甚至杜绝遗传病发生的主要途径。遗传咨询和产前诊断成为控制遗传病发生的重要手段之一,遗传病患者除了需要了解自身遗传病的治疗、预后等方面情况之外,他们更关心生育方面的风险。遗传咨询的目的在于让夫妇被充分告知遗传病的风险,并提供一些有价值的指导性意见和切实可行的措施,让他们做好生殖方面的选择：如产前诊断、选择性人工流产、供精人工授精或供卵体外受精、植入前遗传学诊断等。以上每一种选择涉及相关的医学伦理原则,既存在着共性,也具有其特殊性。同时不管选择哪种技术,由于种族、信仰和文化背景的差异,在伦理原则上都存在着一些争议,有待解决并加以完善。因此,充分的遗传咨询、完善的知情同意过程以及尊重个体的自主权是临床伦理实施过程中至关重要的,目前我国尚未颁布在遗传咨询和产前诊断工作中的伦理指导细则,为了更好地保护病人的利益,规范医务人员在遗传咨询和产前诊断工作中的医疗行为,更好地为遗传患者服务,在我院建立相关的伦理细则是至关重要的。
[Abstract]:Hereditary diseases are diseases caused by mutations in genes or chromosomal aberrations. Although they may not be passed down from generation to generation, they are often characterized by very serious symptoms once they are developed. Genetic diseases are an important factor affecting the quality of the population. It is also the main cause of birth defects. Hereditary diseases include chromosome disease, monogenic disease, polygenic disease and mitochondrial disease. As is known to all, family planning and eugenics are the basic national policy of our country. But because the root cause of genetic disease is the defect of genetic material, there is no effective way to correct defective genes or chromosomes and to treat it, so use appropriate medical techniques to prevent the birth of a child with genetic disease. Genetic counseling and prenatal diagnosis have become one of the important means to control the occurrence of genetic diseases. Patients with genetic diseases need to know the treatment and prognosis of their own genetic diseases. They are more concerned about reproductive risks. Genetic counseling is aimed at keeping couples fully informed of the risk of genetic disease and providing valuable guidance and practical measures. They are asked to make reproductive choices such as prenatal diagnosis, selective abortion, donor insemination or in vitro fertilization of donor eggs, preimplantation genetic diagnosis, and so on. At the same time, no matter which technology is chosen, there are some disputes over ethical principles due to differences in race, belief and cultural background, which need to be resolved and perfected. Perfect informed consent process and respect for individual autonomy are very important in the process of clinical ethics implementation. At present, our country has not promulgated the rules of ethics guidance in genetic counseling and prenatal diagnosis, in order to better protect the interests of patients. It is very important to standardize the medical behavior of medical staff in genetic counseling and prenatal diagnosis and to better serve genetic patients.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R394;B82-05

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