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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Genetic counselling in monogenic cancer syndromes]
Karen Brøndum-Nielsen1, Anne-Marie A Gerdes
1Kennedy Instituttet--Statens Øjenklinik, Gl. Landevej 7, DK-2600 Glostrup. kbn@kennedy.dk
Abstract:
The article describes the state of the art in the management of hereditary cancer predisposition syndromes in Denmark. Genetic counselling in relation to monogenic cancer syndromes is now well established in the Danish health care system, after a remarkable development during the past 10 years. The cornerstones of this activity are identification of persons at risk through elucidation of the family history of cancer, risk assessment, genetic testing and genetic counselling of the counselee and her/his family. During the counselling process, ethical, legal and psychosocial issues are addressed. Persons identified as being at risk are offered assistance in the form of standardized screening programmes or/and prophylactic surgery, when relevant and when opted for by the patient. The ultimate purpose is to reduce cancer mortality, and the hope is that future developments will lead to the identification of effective methods of true cancer prophylaxis.
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