Genetic Counselling 2011

Author: B. Wollnik
Submitted: Monday 5th of September 2011 01:47:26 PM
Submitted by: egf
Educational levels: qc1, qc2, qc3


Genetic counselling is defined as the process that provides patients and family members with information about the natural history, cause, and inheritance of genetic diseases. Individuals or families may consult medical geneticists because they suffer from or are at risk for a genetic disease. The genetic counsellor addresses the individual situation of the consulter in a way that his/her personal questions, worries and schemes for life in view of the disease in question are taken into account, in order to help the consulter to make informed medical and personal decisions. Topics that are commonly discussed are the possibility of molecular genetic testing and the interpretation of possible test results, inheritance of diseases, recurrence risks, the desire to have children, and the possibility of preventing or ameliorating the course of a disease by prenatal testing. Apart from the natural history of a disease, its symptoms, and progressiveness, it is essential to attend to psychosocial aspects, possibilities of support and interaction with other affected persons (support groups) and the implications for everyday life (insurance, accommodation, etc.). Furthermore an important part of a genetic counselling is to take a complete family history and to explain the risk of inheritance also for siblings and other family members to the consulter in order to ensure that all persons at risk have the chance to avail themselves of the opportunity of a genetic counselling. The intention of genetic counselling is to advance the consulter’s understanding of the disease in question, point out the inheritance risk, discuss disease management options, and explain the risks and benefits of testing. A counselling session should aim to give unbiased information and non-directive assistance in the patient's decision making process. The recent fundamental advances in sequencing technologies and its applications, such as whole-exome sequencing will probably have a dramatic effect on genetic counselling and lead to dynamic changes in the process of genetic counselling. Examples of these effects will be discussed during the lecture.


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B. Wollnik. Genetic Counselling 2011. EUROGENE portal. September 2011. online:



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