
Contents
16.2 Genetic counselling
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Published:July 2018
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This version:November 2019
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Abstract
Cardiac genetic counselling is an important subspecialty. The qualifications of cardiac genetic counsellors depend on the country of practice, but at a minimum they are Master’s-level trained health professionals with expertise in genetics, and are integral members of the multidisciplinary inherited cardiovascular disease clinic. Though the framework is diverse in different countries, key roles include investigation and confirmation of family history details, discussion of inheritance risks and facilitation of cardiac genetic testing, communication with at-risk relatives, and increasingly, curation of genetic test results. The increasing use of next-generation sequencing technologies has seen a shift in the uptake of genetic testing, due to greater availability and lowered costs. As these gene tests become more comprehensive, including large panels of genes and increasingly whole exome or whole genome sequencing, the need for cardiac genetic counsellors to provide informed consent, appropriate pre- and post-test genetic counselling, and ongoing curation of the variants identified is evident. Finally, given the improved understanding of the psychological implications of living with a cardiovascular genetic disease, cardiac genetic counsellors are integral in delivering psychosocial care and identifying patients requiring intervention with a clinical psychologist.
Update:
Expansion of information on pre-implantation genetic diagnosis.
New paragraph on genome sequencing.
New table outlining the advantages and ...More
Update:
Expansion of information on pre-implantation genetic diagnosis.
New paragraph on genome sequencing.
New table outlining the advantages and disadvantages of different methods of genetic testing.
Update of variant curation paragraph.
New paragraph on variant reclassification.
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