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1.
郁凯明 《生命科学》2012,(11):1277-1282
遗传物质的突变,包括基因突变或染色体畸变,是遗传病发生的根源,也是区别于其他疾病的基本特点。大力开展遗传测试及筛查,及时检出遗传病患者及致病基因携带者,是提高人口素质,促进家庭幸福、社会繁荣、国家昌盛的唯一可行的方法。遗传咨询对于检出遗传病患者及致病基因携带者,并进行有效、可行的婚姻指导、生育指导,以减少或防止遗传病患儿的发生和发病,发挥着相当重要的作用。在产前诊断中涉及疾病胎儿处理的道德选择问题上,遵循四项基本准则:第一,尊重夫妇双方的选择;第二,对个人和家庭不产生伤害;第三,产前诊断的结果可靠;第四,产前诊断和遗传咨询的自愿性。这些准则无疑在世界各国有着共同性。  相似文献   

2.
遗传咨询工作是临床遗传学的重要组成部分.开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的.对医学遗传学课程建设起到了促进作用.  相似文献   

3.
李巍 《遗传》2007,29(4):432-432
优生优育与人口健康问题关系到千家万户的幸福,这方面的知识是广大读者和网友都十分感兴趣的问题,中国遗传咨询网(www.gcnet.org.cn)经常收到网友的来信,咨询其恋爱、婚姻、生育、子女健康等问题,许多兼职的专家已经义务性免费解答了上千人次的咨询,受到大家的欢迎和好评。为了向广大读者与公众普及优生优育与遗传学知识,本刊和中国遗传咨询网联合开辟“遗传咨询”栏目,从上述咨询案例中挑选有代表性的问题,隐去咨询者的身份,将解答意见予以公布,以供读者参考。大家对此栏目有何意见与建议,请向《遗传》编辑部反映,E-mail:yczz@genetics.ac.cn。如有遗传咨询问题,请登录www.gcnet.org.cn咨询。  相似文献   

4.
遗传咨询工作是临床遗传学的重要组成部分。开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的。对医学遗传学课程建设起到了促进作用。  相似文献   

5.
罗佳滨  朱金玲  张春斌  张虎  刘爽 《生物磁学》2011,(21):4198-4200
遗传咨询工作是临床遗传学的重要组成部分。开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的。对医学遗传学课程建设起到了促进作用。  相似文献   

6.
李璞 《遗传》1988,10(6):36-38
医学遗传学是医学教育中的一门基础医学课程。 在我国现有的学制中,高等医学院校对医学生的遗传 学教学分为三个阶段:第一阶段为“普通遗传学”,教 学内容包含在“医用生物学”课程中,大约占30学时左 右(20学时讲课,10学时实验)。一般在第一或第二学 期开课,主要讲解遗传学的基本规律;细胞遗传、分子 遗传、群体遗传的基本概念。实验内容包括减数分裂、 核型辨认、系谱分析、以PTC尝味为基础的基因频率 计算以及习题课等。第二阶段为“医学遗传学”,在目前 的教学计划中列为选修课,约占36学时。一般在第五 学期开课,这是医学院校中遗传学教学的关键,实际上 讲的是遗传病的总论。第三阶段为“临床遗传学”,一 般在第八学期开课,只占2一斗学时,附设于儿科学 中,主要是通过一、二种遗传病(如先天愚型、苯丙酮尿 症、神经管畸形等)来讲解遗传病的诊断、治疗、以及通 过遗传咨询、产前诊断进行有效的预防等。  相似文献   

7.
李巍 《遗传》2008,30(9):1120-1120
问:我的父亲和妹妹都是先天性白内障患者,而我和我的母亲都没有问题,我的家族和我爱人的家族里面也没有其他人有这方面的问题。我想请问,我们可以要小孩吗?如果会遗传给小孩的话,小孩患病的概率是多少?得了这种病有好的治疗办法吗? 答:先天性白内障是常见的婴幼儿眼盲的疾病,其中约20%为遗传性疾病,还有一些是由于宫内感染、孕妇营养或内分泌失调等所引起。遗传性先天性白内障中,约70%为常染色体显性遗传,30%为常染色体隐性遗传,偶可见X连锁遗传方式。从你的家系来看,可能是常染色体显性遗传,最好能上溯到你爷爷奶奶那辈,看是否有同样患者,以明确遗传方式。这种常染色体遗传病的遗传风险为50%,你没有患病,表明你没有遗传该致病基因,不用担心你们子女的遗传风险。目前已发现导致多个白内障的突变基因。临床上将白内障分为前极性、后极性、绕核性、核性和全白内障等不同类型,临床表现有所不同。对于静止型且视力影响不大者,一般不需要治疗。严重影响视力者,可行晶状体摘除术。  相似文献   

8.
心理治疗模式遗传咨询的工作重点及基本程序   总被引:1,自引:1,他引:0  
章远志  Nanbert ZHONG 《遗传》2006,28(11):1440-1444
心理治疗模式遗传咨询的工作重点及基本程序均有别于以往的遗传咨询模式。在这一模式中, 工作重点不再是单纯解决咨询者所遇到的生理问题, 而是要同时解决其所遇到的心理问题。其中由卡尔·罗杰斯提出的“以当事人为中心的疗法”在这一模式的咨询工作中占有重要的地位。由于工作重点由解决生理问题转移到心理问题, 心理治疗模式遗传咨询的工作程序亦需作相应的调整。这些程序大致可分为7个阶段: (1)首次接触; (2)相互介绍; (3)对咨询议程达成共识; (4)采集家族史; (5)告知并解释医学及遗传学信息; (6)结束咨询; (7)咨询后工作。  相似文献   

9.
减少出生缺陷是我国"健康中国2030"规划中的重要组成部分。遗传因素单独或协同作用导致了超过80%的出生缺陷疾病。与出生缺陷相关的遗传学研究可为临床筛查、诊断和治疗提供精准的分子靶标。我国的出生缺陷遗传学研究自20世纪60年代以来取得了长足的发展。同时,随着相关研究成果的不断涌现,以遗传咨询和检测为核心的临床转化工作也在不断深化和完善。基础研究与临床应用的紧密结合,将为我国孕育"健康孩"提供可靠的技术保障。本文首先回顾了我国出生缺陷遗传学研究的历史,继而介绍当前国内外出生缺陷遗传学研究的现状和热点,最后对未来的研究方向及相关的临床应用趋势进行展望和讨论,旨在为读者提供了一个全局性的视角来认知我国的出生缺陷遗传学研究发展之路。  相似文献   

10.
人类高分辨染色体显微切割、PCR、微克隆、探针池技术及其应用徐磊,夏家辉(湖南医科大学医学遗传国家重点实验室,长沙410078)医学本身的发展,使临床病种的构成发生了质的改变,随着传染病的控制,遗传病以及遗传与环境共同作用所致的恶性肿瘤已成为临床常见而多发的病种。遗传学基础理论和技术的发展及其向医学领域的渗透.已为人群中某些遗传病(染色体病和单基因病)找到了诊断和预防的途径。  相似文献   

11.
Abstract

Stillbirth is a frequently occurring tragedy that causes intense problems for parents experiencing it. A review of the literature suggests that the grief response of parents to stillbirth or neonatal death may present more problems than do other types of bereavement. An assessment of these problems suggests that a successful plan for management requires intervention as soon as possible after the death occurs. A protocol for such intervention is presented. It is suggested that such intervention is the proper domain of genetic counselors and represents an expanded approach to genetic counseling, particularly in the light of the recent movement toward a more psychologically oriented paradigm of genetic counseling.  相似文献   

12.
Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ~1 y of symptom onset. The cause of death was reported as “rapid onset dementia.” The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD. The family had additional questions about the implications of this result and thus independently sought out genetic counseling.

?While rare, fCJD is likely underdiagnosed due to clinical heterogeneity, rapid onset, early non-specific symptomatology, and overlap in the differential diagnosis of Alzheimer disease and Lewy body dementias. When fCJD is identified, a multidisciplinary approach to return of results that includes the affected patient's provider, genetics professionals, and mental health professionals is key to the care of the family. We present an example case which discusses the psychosocial issues encountered and the role of genetic counseling in presymptomatic testing for incurable neurodegenerative conditions. Ordering physicians should be aware of the basic issues surrounding presymptomatic genetic testing and identify local genetic counseling resources for their patients.  相似文献   

13.
Abstract

Observations of client‐counselor interaction during genetic counseling sessions at a metropolitan hospital on the West Coast identified five major problems with which genetic counselors had to deal. Their clients needed: (1) a diagnosis of the disease condition; (2) an evaluation of the genetic nature of the condition; (3) to be taught biomedical information; (4) assistance in coping with psychological stress; and (5) information on available community resources and social service support. The genetic counselors under observation tended to satisfy the clients’ first two needs, the need for a diagnosis and for a genetic evaluation, but they tended not to satisfy the clients’ needs in the areas of education and psychosocial counseling. Genetic counseling appears to demand a synthesis of five different professional skills, those of the medical doctor, the geneticist, the educator, the psychotherapist, and the social worker. These findings are discussed in terms of their relevance for creating programs for training genetic counselors.  相似文献   

14.
The intent of this study was to document current practices in breast cancer genetic counseling and identify areas of variability for patients with a variant of uncertain significance (VUS) in the BRCA1 or BRCA2 gene. Registered members of the National Society of Genetic Counselors (NSGC) Cancer Special Interest Group (SIG) were sent an invitation via electronic mail to participate in an online questionnaire. The questionnaire was divided into three sections: clinical experience, clinical meaning, and risk perceptions and clinical recommendations for clinical situations involving a VUS. Fifty-seven of the eligible members responded. During the pre-test counseling session for a BRCA risk assessment patient, the vast majority of counselors (80.7%) mention VUS as a possible test result. Nearly half, 49.1%, report having given such a result to their patients at least one to four times. However, only 63.2% felt as though their patients understood the meaning of a VUS result. When asked to conclude the implication of a VUS and make medical management recommendations, the responses were varied. Nevertheless, a good proportion of counselors expressed the importance of testing other family members to help clarify the proband's risk and aid in medical management issues. Although the recent recommendations by the American College of Medical Genetics suggest standards for the interpretation of sequence variations, they do not provide guidelines for making clinical recommendations based on these variations. The results of this study reveal significant diversity in the personal interpretation of a VUS result, leading to various clinical recommendations, and suggest a need for clinical management recommendations as well.  相似文献   

15.
In September, 1989, 35 individuals representing training programs for genetic counselors and genetic nurse specialists, the Education Committee of the National Society of Genetic Counselors (NSGC), and others with interest and expertise in genetic counselor education met at Asilomar, CA. The purpose of this meeting was to reevaluate training program curricula, both didactic and experiential; to discuss the need for and desirability of advanced graduate education in genetic counseling; and to consider whether alternatives to master's-level training are needed to overcome a growing manpower shortage in the provision of genetics services. This article summarizes recommendations for master's-level training curricula, reviews options and implications for post-master's genetic counselor education, and examines issues related to training for people without a master's degree who also provide patient and community genetics education.  相似文献   

16.
Summary Oranizational forms and the current status of genetic counseling within the health care system of 15 European countries were evaluated by questionnaire and at a symposium, with individuals present from Austria, Belgium, Czechoslovakia, Denmark, the Federal Republic of Germany, the German Democratic Republic, Finland, France, Hungary, Italy, the Netherlands, Norway, Switzerland, the United Kingdom, and the Soviet Union. In spite of wide differences between these countries, certain similarities with respect to the delivery of genetic counseling services could be observed: (i) most genetic counseling is done within university institutions or closely linked to it; (ii) governmental support of genetic counseling is developing slowly, and genetic counseling is usually not yet fully integrated into the health care system; (iii) there is lack of qualified personnel; (iv) no guide lines for formal education have been developed, but a postgraduate training period of no less than four years is considered a minimum; (v) without appropriate support, genetic counseling is a burden for research in human genetics; yet, a strict separation of genetic counseling and research activities is not recommended; (vi) on the average, a team providing genetic counseling for about 1–2 million people should consist of 3–4 physicians, 5–10 technicians, 2–3 secretaries, and other supportive personnel.This study was supported in part by the Deutsche Forschungsgeneinschaft  相似文献   

17.
The role of genetic counseling in future testing for inherited susceptibilities for common diseases is debated. Currently, genetic testing, ideally supported by genetic counseling, is most often used to modify the assessment of genetic risk of Mendelian-inherited disease in high-risk individuals for the purpose of personal decision-making. By contrast, it is anticipated that genetic testing will be used to identify increased disease susceptibility in low-risk individuals for the purpose of instituting medical or lifestyle interventions to modify risk for future disease.  相似文献   

18.
Lucast EK 《Bioethics》2007,21(1):41-50
When misattributed paternity is discovered in the course of genetic testing, a genetic counselor is presented with a dilemma concerning whether to reveal this information to the clients. She is committed to treating the clients equally and enabling informed decision making, but disclosing the information may carry consequences for the woman that the counselor cannot judge in advance. A frequent suggestion aimed at avoiding this problem is to include the risk of discovering nonpaternity in the informed consent process for counseling. In this paper I argue that such a move does not resolve the problem, because the conflict hinges on the interpretation of equality on which the counselor operates. Given the principles of genetic counseling, neither construal of equality yields a satisfactory solution to the conflict. In fact, I conclude that including nonpaternity in informed consent is not endorsed by either view, and we are still left with the question of what to do should nonpaternity be discovered. I suggest a compromise position concerning disclosure, involving revealing relevant genetic information but withholding nonpaternity when possible.  相似文献   

19.
As part of a multicenter study supported by the German Mildred Scheel foundation we have established an interdisciplinary counseling setting for members of breast and/or ovarian cancer families. We offer simultaneous counseling by a team consisting of a geneticist, a gynecologist and a psycho-oncologist. Here we describe our counseling protocol and our first short-term experience with this interdisciplinary approach. Preliminary data on patient perceptions and behaviors in the context of DNA testing are reported. Overall, our counseling approach was perceived as beneficial both by the counselors and the consultants. A marked overestimation of the risk to develop breast and/or ovarian cancer was noted in the group of unaffected individuals from medium to low risk breast cancer families in contrast to an appropriate risk perception in members from high risk families. All participants shared many of the same expectations about genetic testing and counseling and appeared to base their decision-making about testing on the risk classification given by the genetic counselor. The reported participation in gynecological cancer prevention programs was high in all families at risk, but was less sufficient in unaffected as compared to affected persons. Although current data on BRCA1/BRCA2 mutation analyses render testing in medium to low risk individuals questionable, our findings emphasize the importance of genetic counseling and education in all risk categories of breast and/or ovarian cancer families.  相似文献   

20.
All 565 full members of the National Society of Genetic Counselors were surveyed in September 1989 to assess their attitudes toward a potential doctoral degree in genetic counseling. The usable return rate was 59.6% (337/565) of the full membership. One hundred eighty (54.4%) respondents indicated a need for a doctoral degree in genetic counseling, 101 (30.5%) were undecided as to the need, and 50 (15.1%) did not see a need for such a degree. One hundred forty-seven (44.3%) respondents indicated their individual interest in pursuing a doctorate in genetic counseling, 109 (32.8%) would not pursue such a degree, and 76 (22.9%) were undecided. Beyond the generally accepted feeling that genetic counseling should expand as a professional field, the reasons cited most often for seeking the Ph.D. in genetic counseling were professional recognition, a desire to specialize in a particular area, and greater depth of knowledge. The study revealed a strongly positive attitude, among full members of the NSGC, toward establishment of a doctoral degree in genetic counseling.  相似文献   

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