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Genetic counselling 

Genetic counselling
Chapter:
Genetic counselling
Author(s):

Alan E H Emery

, Francesco Muntoni

, and Rosaline Quinlivan

DOI:
10.1093/med/9780199681488.003.0012
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date: 23 October 2019

Genetic counselling is essentially a process of communication between the counsellor and those who seek counselling. The information to be communicated concerns the disease itself, the genetic mechanism that caused it, and the risks of recurrence, and, second, the options available if the risks are considered unacceptably high. These include contraception, sterilization, prenatal diagnosis, preimplantation diagnosis, and abortion, each of which may, have important psychological sequelae and require counselling. Some couples, for various ethical and other reasons, may be unable to accept these options. It is important to recognize the psychological aspects of genetic counselling and the sequence of events that follows the initial diagnosis, and that is referred to as the ‘coping process’. Each stage requires counselling to be tailored accordingly, for only in this way will it be at all effective and will rational decisions be made.

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