Genetic Counseling

J. M.A. Verhagen*, I. M.B.H. van de Laar

*Corresponding author for this work

Research output: Chapter/Conference proceedingChapterAcademic

Abstract

Genetic counseling is the process of providing patients or their family members with information on the genetic contribution of a disease in order to facilitate autonomous decision making and adapting to a genetic risk or condition. Counselees should be helped to adequately interpret and act upon the genetic information according to their personal values and beliefs. For patients with Aneurysms-Osteoarthritis syndrome, genetic counseling should focus on the variable clinical manifestations and potential aggressive disease course, the medical and psychological implications of genetic testing, and the possible effect on social and familial interactions. Genetic testing in minors deserves particular attention. Furthermore, young adults should be offered adequate and timely genetic counseling to discuss the potential risk of transmitting the disease to their offspring; the available reproductive options, including prenatal diagnosis and preimplantation genetic diagnosis; and the potential pregnancy-related complications.

Original languageEnglish
Title of host publicationAneurysms-Osteoarthritis Syndrome
Subtitle of host publicationSMAD3 Gene Mutations
PublisherElsevier Inc.
Pages147-152
Number of pages6
ISBN (Electronic)9780128027110
ISBN (Print)9780128027080
DOIs
Publication statusPublished - 2017

Bibliographical note

Publisher Copyright:
© 2017 Elsevier Inc. All rights reserved..

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