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Genetic counselling 

Genetic counselling
Chapter:
Genetic counselling
Author(s):

Perry Elliott

, Pier D. Lambiase

, and Dhavendra Kumar

DOI:
10.1093/med/9780198829126.003.0004
Page of

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date: 26 May 2022

Genetic counselling is one of the major tools in managing inherited cardiac conditions (ICCs) including single gene disorders such as hypertrophic cardiomyopathy and long QT syndrome to multifactorial conditions such as coronary artery disease (CAD) and congenital heart disease (CHD). This chapter deals with genetic counselling for ICCs that are typically transmitted in a Mendelian fashion, for example cardiomyopathies, arrhythmias, Marfan syndrome, as well as inherited lipid disorders. Typically, a genetic counsellor works within a multidisciplinary team including cardiologists, clinical geneticists, nurses, social workers, and psychologists. This chapter covers the role of genetic counsellors, process, consent and confidentiality, communication, and outcomes.

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