1、Cellular and Medical Genetics ExperimentsDr. Hui LiChapter 8 Human genetic disease and gentic counselingExperiment Aim1. Be familiar with the concept, characteristics and classfication of some human genetic disease 2. Know the basic protocal of genetic counseling3. Cultivate students responsibility

2、of forming good and noble doctorsExperiment materilas Human genetic disease casesExperiment Procedures Genetic counseling is a procedure carried out by referring physicians and counselors. They discuss the recurrent risk and the prevention and cure of a hereditary disease in a family, make the right

3、 choice and put it into practice under the assistance of the referring doctor. Genetic counseling is a very complex procedure and can not be finished by one consultation. It usually include the following parts: 1. Preparation of the consultation 2. The first consultation 3. The second consultation 4

4、. Follow-up visit Genetic counselling is the provision of information to affected individuals or family members at risk of a disorder that may be genetic.The consultants are informed of :The consequences of the disorder;The probability of developing or transmitting it;Ways in which it may be prevent

5、ed or ameliorated.What is genetic counseling?Some important points in genetic counsellingIt is important that information is given in a way that the consultands can understand.It is useful to ask them what they understand about genetics before attempting to explain the nature of the disease.The cons

6、ellor should aim to make the consultands aware of the risk of having an affected child, the possible means of prevention including prenatal diagnosis and carrier detection, and treatment of the disease. Counselling should be non-judgemental and non-directive.Presenting the risks in contextOnce the d

7、iagnosis and mode of inheritance have been established, carrier risk and recurrence risk for the consultands can be estimated, based on Mendelian rules and Bayes theorem.Discussing options, communication, and supportThe counsellor must aim to be non-judgemental and non-directive towards the consultands when discussing their future options.At best, the counsellor can give the consultand reassurance that the recurrence risk is no greater than the population risk.If the recurrence risk is high, the counsellor must e