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遗传咨询
遗传咨询在遗传病预防中发挥着不可替代的作用,它是遗传学服务的重要组成部分.随着医学的发展,遗传因素在疾病发生、发展以及诊断和治疗等过程中的作用被人们广泛思考、探索、揭示和应用,这一显著的变化也为遗传咨询工作带来改变,不仅遗传疾病需要咨询,对常见慢性疾病、体细胞遗传病的理解、治疗以及预防也逐渐成为遗传咨询的工作内容.本文着重介绍经典遗传咨询的概念、原则、实施过程以及注意事项等相关问题.
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从历史的观点谈我国医学遗传学的出路
通过对医学遗传学的发展史进行回顾,可知医学遗传学是一门临床学科,临床遗传学是它的临床部分.它的飞速发展是由于基础学科与临床遗传工作的密切互动.不幸的是,在我国,临床遗传工作没有受到应有的重视.迄今,医学遗传学及其临床部分还不是一门医学专业.这种情况与发达国家相距甚远.目前应立即确认医学遗传学及其临床部分是一门医学专业,并在有条件的大医院内,积极推动临床遗传学服务工作.
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美国的医学遗传检测
Genetic tests for about 1 000 health conditions have been developed, of which more than 600 are currently available for clinical testing[1]. Many genetic tests identify DNA variants; others measure biochemical markers or analyze chromosomes. Most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, and a few are used for newborn screening[2]. A growing number of genetic tests may have population-based applications. This includes determining the risk of developing a disease or condition in the future (e.g., predictive testing for breast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medicines (pharmacogenomics). These genetic tests, therefore, have the potential for broad public health impact.
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中国大陆产前诊断的现状和前景
1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseasesPrenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s, the group of prenatal diagnosis in Peking Union Hospital was founded by Dr. Qiao-zhi LIN.Meanwhile, under the leadership of Dr. LIN, the group successfully completed the culture of amniotic fluid cells and began to diagnose fetal chromosomal diseases in the second trimester of pregnancy. In 1988, they succeeded in diagnosing chromosomal diseases by taking the chorionic villus in the early pregnancy. Since then, the genetic and prenatal counseling to those women who previously had children with severe defects were gradually developed. The work of the Peking Union Hospital developed prenatal diagnosis in our country.
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中国目前的遗传咨询
In 1975, the American Society of Human Genetics adopted the following definition of genetic counseling: genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This definition indicates that genetic counseling is the delivery of information about genetic diseases, including genetic risks, natural history of the disease, and clinical management of the disease, to patients and their families. Although genetic counseling is not a new word for both western countries and China, the development of which is quite different. Many excellent genetic counseling programs have been developed since then in developed countries, whereas there is no formal one in China. In the United States, professionals who carry out genetic counseling must have taken a professional training and have had the certificate of American Board of Genetic Counseling (ABGC) (www.abgc.net). The ABGC prepares and administers examinations to certify individuals who provide services in the medical genetics specialty of genetic counseling, and accredits training programs in the field of genetic counseling. There are more than two dozen master degree programs of genetic counseling accredited by the ABGC with either full, interim, or recognized new programs (www.abgc.net). There are twenty-one full credential programs in the United States, three in Australia, three in Canada and two in United Kingdom (www.abgc.net). Looking through all over the China, there is no any official genetic counseling program, so neither any professional genetic counselor. Genetic counseling in China now is not offered by professionally trained genetic counselors, but clinicians such as pediatricians or obstetricians[1]. These clinicians who performing genetic counseling in China have not been trained professionally on genetic counseling. Further more, there is no any board to certificate counselors.
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中国香港地区的医学遗传学发展
As a geographically integral part of south China, the population mix of Hong Kong is largely influenced by its location. In the past 150 years, its population has increased from a few thousand to 5.7 million. This is the result of episodic influxes of a great mass of people from China, often associated with political upheavals or economic crisis. It explains a population structure of 95% Chinese. This structure is also reflected in the finding of genetic variants in this population, which bears resemblance to neighbouring regions in China. For example, the thalassaemias and lactose intolerance are common.
